[POST TITLE]: THIS $100 TEST PROBABLY SAVED MY LIFE. FORMAL GENETICS TESTING CONFIRMED THIS & ANOTHER MUTATION. NOW RECOVERING FROM MY PROPHYLACTIC BILATERAL MASTECTOMY & WILL HAVE RECONSTRUCTION SURGERY THIS FALL. IT’S BEEN A STRESSFUL YEAR, BUT LITERALLY THIS BLACK FRIDAY PURCHASE MAY HAVE SAVED MY LIFE. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Wow, I’m so glad you did the testing. That definitely was $100 well spent. Hope you have a speedy recovery from your mastectomy and all goes well with your other surgery later in the year. We're not allowed these health reports in New Zealand...I'm glad you did the test My OB-GYN ordered a similar test after my grandmother had a bout with (some kind of ovary/cervix, I don’t recall, but knew at the time) cancer. I don’t have BRCA, but I do have a mutated gene that means I’m more likely to get skin cancer. We should all be wearing sunscreen everyday, but now I’m more mindful about that, covering my arms, and wearing a hat. These are great tests if you have the money to get them. So glad it helped someone else! Definitely a well spent $100! Sucks that you had these variants, but glad to hear that you’re doing ok! This makes me want to upgrade to the health version, what do you guys think? So you did the health and ancestry test? Omg! This is amazing! Good luck to you. Thank you for sharing your story! ❤️ Glad you did the testing, that $100 saved your life!! Wishing you a speedy and healthy recovery. Did your insurance pay for the surgery? I'm just fascinated by this whole situation. Thank you so much for sharing! So did you contact your insurance company to ask if they would cover the initial testing to confirm the 23andMe results? I just realized (like 5 minutes ago) that I have the genetic variant for rs2981582(T;T) which puts me at an increased risk for ER+ Breast cancer. Take good care 💞 Wow. I’m happy for you that you were able to discover this mutation and take preventive actions. I was offered 23&me for free because I have lupus and they were conducting a study on lupus patients, however I was happy to see they tested for the BRCA gene mutations as my mother had breast cancer when she was 29 years old. Thankfully my tests were good and I am even more thankful that mom is 62 now and a 33 year breast cancer survivor. My results eased my mind about me developing this disease as well as the thoughts that my daughter could get it. 23&me has given me some peace and I’m glad it has given you the knowledge you need to make the best decisions for your life. Can getting this result make for problems when getting life insurance? Long term care insurance? Thank you. That is helpful. I may still want to get genetic testing done then. Does anyone know if Promethease checks for it? I have the health version, but I don’t have these tests?! My mom had breast cancer and I’m eager to know if I have these myself.. Did your insurance cover the bilateral mastectomy since you have the genetic marker for the cancer?? Where are you finding it for $100. Amazon has it for $199. Me too! LOL! I’m just sharing in hopes that it’s helps someone else decide about the testing. For me, it was 100% worth the money. I found out that a positive BRCA mutation result on a 23&Me test is so accurate that my insurance company considers it a qualifier for covering more thorough confirmatory genetics testing. 23&Me only tests for a few of the common BRCA variants, but the genetics counselor at my hospital said 23&Me’s test results may be limited to fewer variants but what they do test for is as accurate as hospital testing. Thank you! 😊 That’s super nice of you 😊 Wow! I did not know that! Do you mean 23&Me doesn’t provide the service in New Zealand 🇳🇿 or do you mean genetics testing outside of a medical facility isn’t allowed there? You have access to the raw data though, correct? You can put your data to a site like promethease and they will provide with a list of SNPs that you have. Good for you for being so proactive!! I’m sorry to hear your grandma went through cancer. So many of my relatives have gone through it, and I feel for you. We are all so fortunate to live in a time when we can do more than say, “Well, there’s a family history. 🤷🏻‍♀️ “ At least how we can test and have some idea of what to be looking for, and in some cases, even be able to prevent or proactively treat ourselves. Absolutely amazing. 💝 Thank you very much!! I hope my sharing this is helpful to people. 😊 I did it on a whim, and while it’s resulted in a pretty crazy year, it has also truly given me life-saving knowledge. What else can I buy for $100 that does THAT?! 😊 It would save you money if you just download your raw data and upload it to Promethease. The reports won't be as professional as 23andme, but you should be able to find out SNPs that increase your risk to conditions. Only useful if you have Jewish ancestry-- they only test (accurately) the three common Jewish mutations. Other mutations have a high false positive and false negative rate (and hence are not reported in the health version, and can't be trusted in the raw data). See r/snpedia and r/promethease for lots of stories where the raw data was not accurate. I did. I bought the regular kit, and when I registered, it gave me the option to add on the $100 health screening. Honestly, the health screenings were the most interesting results I got. My ancestry was all unsurprising, but the genetic health stuff was super interesting! Lots of actionable info I could share with my doctor and discuss. Thank you! So nice of you! 😊 Thank YOU! 😊 Have a great day! Thank you!! 🤗 I appreciate that! 😊 Thank you so much! 😊 My pleasure! I hope I can help raise some awareness 😊 I blogged about this a lot at www.inappropriateoutburst.wordpress.com if you want to know more. Re: insurance, the short answer is yes. I have private insurance (in the US) through my employer, and it covers genetic testing, mastectomy, and reconstruction. There are some hiccups with it of course, but overall the insurance side has been pretty smooth. I certainly had to pay out my entire deductible and hit my out-of-pocket max, and that was a lot. But it’s nothing compared to the insane amounts my insurance was billed. Basically, because my 23&Me BRCA screening was positive, my insurance covered confirmatory testing through the hospital, and since that was positive, it covered the mastectomy (which, by federal law, has to include covering reconstruction if its desired). I hope that helps! 😊 I’m sorry you’re walking down this path. It can be scary, but I still honesty believe it’s such a gift to know this stuff and be able to be proactive about it. Regarding coverage, I pulled up my Plan Document online and looked up the qualifiers for genetic testing and found it, in writing, that a positive 23&Me screening would qualify me for testing. Plus it said people of my ethnicity and people with more than a certain number of relatives with cancer qualify, so I was set on all counts. You may want to look up your Plan Document and research. Plus if you go to your doctor and request it, the genetics office you go to will touch base with your insurance to get a pre-authorization. I was told that it was a few grand to do it through insurance but that if it was denied, the lab only charged like... $200 or 300 for people paying out of pocket. Something like that. Not cheap but considering the importance of the info, worth it, IMO. And you! Thank you! 😊 Thank you very much! I’m so glad to hear you AND your mom are cancer free. That is awesome 💝 Just a side note here: 23&Me only screens for the three most common BRCA variants. There are other BRCA mutations and other genetic markers for breast and other cancers that 23&Me does not test for. When I did confirmatory testing through my doctor/hospital, I got additional results with important info on other cancer risks. I hope that’s helpful to you! 😊 Yes. The Genetic Information Nondiscrimination Act prevents health insurers in the US from using genetic testing to deny coverage or increase rates, but life insurers etc CAN ask if you’ve had it done and can ask to see it. I was told it’s best to have such things in place before doing any genetic tests, even 23&Me. It should be in your promethease report depending on where the raw data came from. If the raw data doesn't include BRCA1 and BRCA2, then it won't on there. I took my raw data from 23andme and put it on there and the two BRCA1 founder mutations are definitely in there. Haven't checked the BRCA2, but it should be there. You may have to change some settings in order to view it. If you click settings on your 23andMe account under preferences there is a section that says Health Reports Configuration. Make sure to click change report selections and then that you want to receive health reports. Hi! 😊 Someone else just asked this, so I’m just going to copy/paste my answer here for you 😊 ——— My pleasure! I hope I can help raise some awareness 😊 I blogged about this a lot at www.inappropriateoutburst.wordpress.com if you want to know more. Re: insurance, the short answer is yes. I have private insurance (in the US) through my employer, and it covers genetic testing, mastectomy, and reconstruction. There are some hiccups with it of course, but overall the insurance side has been pretty smooth. I certainly had to pay out my entire deductible and hit my out-of-pocket max, and that was a lot. But it’s nothing compared to the insane amounts my insurance was billed. Basically, because my 23&Me BRCA screening was positive, my insurance covered confirmatory testing through the hospital, and since that was positive, it covered the mastectomy (which, by federal law, has to include covering reconstruction if its desired). I hope that helps! 😊 When I bought it, I just bought the basic kit, which is usually $100. Then during registration, it gave me the option to buy the health screening for $100. So I paid whatever I paid on Black Friday for the basic kit, but then the health screening was $100 on top of that, later. Basically, if you’re paying all up front during a normal day, yeah, $200 is about right for all the options together. 😊 That is good to know. Keep us updated on how you’re doing and good luck with your reconstruction. Just curious, are you having a panel test done to determine your BRCA mutation? Awesome, just what I came here to ask (about insurance) Ancestry test is allowed in most countries but health is banned in NZ, AUS (where I am :/) and a few others I’m sure. It’s technically protection so that there’s no way that health insurance agencies can access it and use it as justification for increased premiums, downside is many people miss out on potentially life saving info like this. There are workarounds though, you can search gene locations and variants associated with traits and manually find and identify what you are in the 23&me gene search. 23&Me doesn't provide the health reports in Norway either, and I believe only state approved medical facilities can do it. I got tested for BRCA mutations some years back (as we had several cases of breast cancer among young women in my family), and I have a mutation in the BRCA2 gene. Got a double preventive mastectomy followed by reconstruction with silicon implants some years ago, when I was 29. There were some though years between discovering that I had the mutation and what it implied (I had seen my mother die of breast cancer), the yearly mammography and MRI and gynecolog appointment and then the recovery from the mastectomy, but life is so much less stressfull now. I am now 34, and when my mother was my age, she discovered that she had metastasized breast cancer, of which she would die 9 years later. I am so grateful for the progress in genetic testings :) Good idea! Did you know what snps of BRCA1/BRCA2 23andMe analyse? Hey! I’m interested in taking the test. I’m curious if breast cancer or similar cancers in the BRCA gene ran in your family so it wasn’t a complete surprise or not? I did do that i might have to check again I was kind of confused by it. Like what all the colored ratios were on the side. I saw the conditions and risks it said i had but I’m not sure how I could determine forsure the severity of them. I worry about Promethease not having good data security practices and all sorts of crazy people getting access to my DNA Yeah this is a good point that I have neglected to mention. If you do find a positive result it might be worth looking into the false positive and negative rate, examining your family history, etc. Ok thanks a lot will do👍 how do you tell if it’s a false positive? Yes, it is. Thank you, I just did, I have all the reports but this one was hidden in all reports instead of the summary overview report page...anyway, it says “Not detected”, “However, more than 1,000 variants in the BRCA1 and BRCA2 genes are known to increase cancer risk, so you could still have a variant not included in this test. “ So guess back to square 1. Thanks! 😊 Much appreciated! 😊 Actually, 23&Me tells you exactly which mutation you have, if it’s one of the ones they test for. For instance, in my case, it told me I have a specific deletion of a specific gene. As a total layman, it didn’t mean much to me, but the genetics counselor looked it over and was able to explain it all to me. They even give you all the raw data. Despite that, yes, I did have full genetics panels run to confirm the 23&Me test and expand to test for some other mutations. This is really interesting! The genetics counselor at my hospital explained a few things about this to me. She said, in the US, we have a law called the Genetic Information Nondiscrimination Act, which precludes health insurers from being allowed to use genetic information to deny coverage or increase rates based on genetic predisposition. Life insurance and that type of thing can request this info and they CAN deny you, so I was told it’s very important to have life insurance before you do any genetics testing in America. Including 23&Me, which counts as far as most life insurance companies are concerned. AM feeling sad today, Hope you are not kind stranger, all the best You can also upload your dna data to Promethease.com, and they’ll give you a medical dna output. I don’t think they ask where you live, but maybe I’m missing something. I am so sorry you lost your mom to cancer. I lost my dad to it, and I would not wish that on anyone. So glad life is less stressful now that you’re past your surgeries. I agree; the constant monitoring is so stressful. Every scan (for me, at least) seemed to show something, and that something had to be biopsied, and it’s just way too much. It’s so consuming. At least we surgery, the risk is largely mitigated and there are no more rounds of scans and biopsies and fear. According to my report, which is negative BTW, they test for the 185delAG and 5382insC variants in BRCA1 and 6174delT in BRCA2. I'm pretty sure these are founder mutations commonly found in people of Ashkenazi Jewish heritage. There are many more variants in these genes, but the risk presented by all of them is not known. Edit: And looking at my promethease report shows 304 SNPs in BRCA1 and 614 SNPs in BRCA2 We do have a family history of a variety of cancers on both my parents’ sides of the family. It includes breast cancer, but it also includes plenty of others. I knew there were a bunch of cancer markers in the 23&Me health screening; I wasn’t thinking of any particular one when I opted in. I just knew we had a bunch of cancers so I thought it would be a good idea. Once I got the results, though, I was not shocked. It made sense, but it wasn’t like I’d suspected it. I hadn’t really thought much about it. You can search by gene on the report. Just type in BRCA1 and BRCA2 and hit enter. That will bring up a lot of results. If you want to just check for certain variants, you can search by RS number (this is a number that is an identifier for SNPs, for example the rs number for the BRCA1 5382insC is rs80357906) I can't assuage your concern there since I'm no expert on their privacy policy, but I do believe they claim that your report is deleted after [45 days](https://promethease.com/privacy) You would need to get medical testing to confirm if the original result is real. Other than the 3 Jewish mutations (one of which OP is talking about), proper testing is really best done in a medical lab since a) the raw data only contains a fraction of all possible mutations; and b) any positive findings need to be confirmed in a lab anyway. There are some $250 out of pocket options that fully sequence \~ 30 genes for cancer risk, and it's medical grade sequencing (color genomics is a popular one) While 23andMe, ancestry, etc have "nuggets of truth" (like the one OP has), most of the data is low quality, and not reviewed by a human who then signs off on a report which can in turn be used by health care providers. When you do medical grade genetic testing, the quality of sequencing has to meet standards, and a board-certified molecular geneticist reviews the results and signs off on the report, which can go into a medical record. OPs story is great, in that she learned something important she might not otherwise have learned. BUT 23andMe etc is in no way a substitute for full medical grade genetic testing. Yeah 23andMe's BRCA report just includes 3 founder mutations that are more commonly found in people of Ashkenazi Jewish heritage. There are indeed many variants in these genes, but for many of them it is not yet known the risk they present. Hereditary breast cancer only makes up 5-10% of breast cancer cases, so it's also quite possible that your mother had sporadic breast cancer. How old was she when she was diagnosed? Usually with hereditary cancer, patients are diagnosed with cancer earlier than people that have sporadic cancer. I see. I didn't know they told you the specific variant, I thought they just told you that you tested positive for a pathogenic variant. Glad you found out. The result seems to have come as some surprise to you, do you have a family history of breast and/or ovarian cancer? If I'm prying, I apologize (and feel free not to answer), I'm just interested because I'm a MS student in a lab that does research on Hereditary Breast and Ovarian Cancer. It was banned in the US as well for a period of time due to the FDA (about 4 years I think) Hoping tomorrow is a better day for you!! 🤗 Thank you! There are \~4,000 disease-causing SNPs in the BRCA1 & BRCA2 genes (combined). 23andMe has FDA permission to tell you (as part of their $100 "health" report) about the 3 that are the most common. In the raw data, which is available to all 23andMe users whether or not they have the "health" option, there is data on \~900 SNPs (including the "approved" 3) as u/ThirdRevelation89 indicates. Ok thanks for the reply! It definitely makes me more inclined to get the health side of the test done myself. Thanks a lot I will definitely try this. I was curious about finding out if I had the copy of certain things like sickle cell. It said chromosome 11 I think I had a copy. Idk what that means or everything just pops up but it doesn’t say forsure if you have it. I’m gonna try what you said though when I can. Ok so basically if I found something that looked concerning I would just need to get it checked out professionally before I made any assumptions or conclusions? You’re not prying at all. 😊 I put this out here to foster conversation and am happy to answer. 😊 Yes, they definitely tell you the specific variant. In fact the data is super extensive. Gene, marker, variant, what the risk % is thought to be, etc etc. pages of info. I was very surprised at how thorough it is! As for the result being a surprise, honestly, it was. While we do have a family history of a variety of cancers on both sides, no one prior to me had gone through genetic testing of this sort, so we didn’t know our family had this mutation. Once I got my results and saw that A) I am 99.8% Ashkenazi Jewish and B) I’m BRCA2+, I sat down with my mom and went through 3-4 generations of family history and who had what, who died of what, etc. Once we looked at it all together, combined with the essentially 100% Ashkenazi Jewish heritage (the other .2% being “other Eastern European,” which is what Ashkenazi Jews are) the genetics results were pretty unsurprising. Given your field, I’m sure you know that whole the general population has a 1:400 chance of a BRCA2 mutation, Ashkenazi Jews are more like 1:40. And being entirely Ashkenazi Jewish? I mean, it makes sense. It just wasn’t something I had given a lot of thought to. I knew it was likely some of my cancer risks were higher than average just based on family cancer history. But I really didn’t know much of anything about BRCA mutations, so this particular result surprised me but then made sense as I learned more 😊 Wow! I had no idea! That’s really interesting! 👍🏻👍🏻 The person you replied to is a bot that is spamming all of reddit like crazy. My pleasure! Best of luck 😊 No problem. [Here](http://genealogical-musings.blogspot.com/2017/11/promethease-review.html) is an image of the Promethease menu. On the right menu, you can search by gene in the gene box (e.g. BRCA1 or BRCA2), you can search by medical condition under the medical condition tab or Clinvar Diseases tab (I believe Sickle cell is under the medical condition tab), and if you want to search RS numbers you can enter them in the search box at the top. Correct, also note that the vast majority of findings in your raw data will be common SNPs, not actual mutations. Have any of your family considered being tested? I think some genetic testing companies even will test family members for the pathogenic variant found in a relative for free. The FDA is such a weird organization. There’s some times where it has proven good (ie thalidomide) but in cases like this it just drags its feet unnecessarily. The health was originally done and then the FDA was like “nuh uh” so they had to remove it and then it didn’t come back until 2017. I’m actually surprised Australiasia doesn’t approve since they are usually one of the first to have medical stuff. Finally someone who knows about this! I’ll check all of this out! I just didn’t know what to do before. Thanks again for your help. I’ll let you know if I find anything. Some of those can be false positives and or / polygenic in nature So most people will have common SNPs that pop up when they search things up but it doesn’t necessarily mean they have the mutation. That’s true! The one my hospital uses offers free testing to family members for 90 days after a positive result. I shared the info with my family so they can make their choices. It has been a discussion for sure. It’s interesting how differently people responded. Some wanted lots of info, others ... not really. It’s also interesting that the tests don’t tell us which side this mutation comes from (maternal or paternal) which of course makes sense once we think about it, but it is so often the first question family asked: is it from mom or dad? It really raised a lot of questions and spawned good conversations in my family, and it made us really sit down and document a full medical history of our ancestors as best we know it. Happy exploring. Don't panic if you find something concerning. As someone else said, it is possible for there to false positives and negatives. And for many genetic diseases/conditions, genetics are not destiny. Correct. Everyone will have common variants. Very few people will have a mutation (common variants don't affect the way the gene functions, but mutations do.) I hope they expand the testing, my family has so much cancer on both sides but the current testing has me with 0 mutations. I just want to know what I'm up against and how I can prevent any future illness. I just lost my aunt to cancer, who had lost her mom to cancer.... It's a trend I'd like to shake. To each his own I guess. Personally, I'd like to know because there are things that can be done to prevent the cancer, like the mastectomy you had done, but at the same time these variants don't exhibit complete penetrance, so it is possible for somehow to have a pathogenic variant like this and not get cancer (unlike something like Huntington's Disease that is 100% penetrant). Ok I won’t. Thanks a lot for your help I really appreciate it :)!! I’m so sorry your family has so much of this horrible disease. Depending on where you live and what your insurance situation is, your family history may be enough to qualify you for coveted genetics screenings. My surgical breast oncologist told me that even if I hadn’t had the 23&Me testing, just based on my family history, not to mention my ethnicity, he’d have ordered genetics screenings. I hope that’s helpful for you! Depending on your access to healthcare, perhaps you should speak to a doctor about your family history or ask to be referred to a genetic counselor. There are definitely other hereditary cancer syndromes than Hereditary Breast and Ovarian Cancer (and mutations in genes other than BRCA1 and BRCA2 can also cause this syndrome). Like the OP said, if you have a family history of cancer that can qualify you for testing. The genetic counselor would take a family history from you and then likely recommend a panel test to look for mutations in certain genes. These panels vary in the number of genes that are on them and also by syndrome. One example is the [CancerNext Panel by Ambry](https://www.ambrygen.com/clinician/genetic-testing/1/oncology/cancernext). For what it’s worth, you may want to consider speaking to a genetic counselor who can more accurately assess your risks and if more rigorous genetic testing might be helpful for you. Absolutely! As soon as I got these results, I knew I needed to take action. I could not just wait and do mammograms and MRIs every six months just waiting for cancer. Frankly, I’ve had a LOT of complications from my mastectomy because I tend to be allergic and sensitive to things. I’ve had drug reactions and an infected expander that required emergency surgery...an ER visit, wound revision... it’s been nuts. But honest to goodness, I keep telling everyone the same thing: if it’s THIS hard for me to go through a mastectomy, imagine how hard it would be for me to tolerate chemo or radiation or even just the prophylactic meds. Nope. Being able to be proactive and do this when I’m younger (44) and healthy instead of in 10-20 years when I’m less able to heal and actually have cancer... it’s a gift. I’m also doing a salpingectomy with the reconstruction surgery. I’m opting for a delayed oophorectomy as the impacts of surgical menopause outweigh the benefits of removing my ovaries at this age. As ovarian cancer is rare in pre-menopausal women, even with BRCA2 mutations, I’m mitigating the risk some with the salpingectomy and then I’ll wait until after menopause for the oophorectomy, doing twice annual ultrasounds and CA-125 testing until then, even though they’re not proven to reduce mortality. [POST TITLE]: CYSTIC FIBROSIS CARRIER [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I was really annoyed when I shelled out $70 for the health report only to have no hits on anything except macular degeneration (which my g-grandma has). But this post makes me realize that it is a good thing to know that I’m NOT a carrier for anything. Sorry you and your wife both are carriers, hope its a false positive and the baby also doesn’t have it. With recessive diseases, there is very rarely any family history at all. Best of luck to you-- this can definitely be nerve-wracking. Keep in mind, the prognosis for CF patients is waaaayyy better than it was years ago. CF patients are living until, on average, well into their forties now, and having children of their own. When I was born, in the 70s, CF was considered a death sentence, and most kids with CF did not live to see their tenth birthdays. I work in a CF clinic; I am a research nurse. Should your child have CF, be sure you go to a CF center (there will be one in most big cities) and not just be seen by a random pediatrician, even if it means you have to put in some travel time. They actually test for CF at newborn screens now in most (if not all) states, so you shouldn't have to have a second test (though they may want a sweat test to confirm). CF is vastly different than it was even ten years ago. The new medications and treatments that we already have and others that are in development means that children born today with CF should be doing their best to save for retirement. That's not to say it's going to be easy, but it is so much better than it used to be. Oh wow, that is scary. I hope the wait for results goes by quickly and comes back that your baby is fine. I also got a shock with my DNA test. I did Ancestry but uploaded to Promethease and a BRCA2 mutation popped right up. Confirmed with real testing, it was true. Stunned me because I have no extensive history of breast cancer on either side (my dad's mom had it in her 70s but that's it, and it turned out I got it from my mom anyway!). Go easy on yourself and give yourself time to adjust to this new information. Good luck!!! I was in a similar boat last year. Found out I'm a CF carrier from 23&me and after getting pregnant with my first child my husband and I both did a genetic testing panel to see if we had anything in common. Neither of us has any family history of any genetic diseases but apparently we are both carriers of luckily different genetic diseases. It did confirm I'm a CF carrier. Best of luck. My first cousin on my mom’s side had CF. She was born in 1968 and was 2 years younger than me. She had a pretty severe case and was not expected to live past 7 years old. She had a lung transplant in 1992 and lived another 6 years. She passed away at the age of 30. There has been so much advancement in treatment for CF, that it is not nearly as scary as it used to be. But still, I know how hard this is and I hope that y’all get good news on the results. Best of luck. This is one of the wonderful things about 23 and me. Early detection is so important, especially when we are talking newborns and no known member in the family with the disease. Good luck. I carry CF and Macular... Ohhh OP. How incredibly stressful for you. Come back and keep us updated. Wishing you and your fam the best. Just FYI my son was positive as a carrier when he was born in 2012. My husband and I were tested shortly after and I was positive. Did 23andme a few years later and it showed up in my carrier status. Best of luck to you guys. I'm a carrier as well (23andMe). While I may never have kids, passing it is something I've worried about. There is (was) an influential YouTouber I followed for years with CF. Claire Wineland, you may want to look her up. She is (was) a good role model. Sadly, she passed away last year from a stroke following a double lung transplant at the age of 21. Not trying to alarm you, but Claire made several videos on how she wasn't supposed to live past childhood. If she made it to 21 with the advancements that occurred in her lifetime, imagine how much longer your child (if CF+) could live. Best of luck OP. Fingers crossed for you guys, I know how stressful it can be! My daughter was flagged for CF during her newborn screening. She tested negative with the sweat test (therefore is simply a carrier) and I’m not a carrier according to 23&Me so that leaves my dear husband. We have five kids so chances are some of them could be carriers besides my daughter. Just read your update. I'm so sorry, I hope you get good news. Found out I was a carrier of the delta gene for cf the most common one while 15 weeks pregnant. Had my husband tested and he turned out to be a carrier of a rare gene for cf and we were told our two genes together caused a severe case of cf. we did an Amnio and thank god she is only a carrier, Of my husbands. Best of luck! I know how scary the wait for results can be. Hope everything worked out well! I now will have to test any further pregnancies but at least now I’ll know before I am on my second trimester. How did the test go? The baby was tested positive. You can still use promethease to find other mutations though. The list of things 23andme tells you is very limited. That's exactly how I felt and then I came to the same conclusion. That was the only thing I had too- macular degeneration, but not even a high likelihood of getting it Especially the ones that used to kill in infancy. I had a high school student with CF last year. He had some special accommodations - his morning was filled with classes he could miss easily (PE, study hall) in case he had a lot of mucus in the morning. He had enzyme medicine he had to take before he ate anything. Other than that, he was an active kid, on a few sports teams, with lots of friends at school. Never would have noticed anything different about him if I hadn't been told. It’s still an awful disease to have... I don’t want to be insensitive, but I feel like that’s a bit of an overly positive image you create. CF will over the course of a patient’s life come accompanied by a bunch of other bacteria thriving on the sick lungs. Depending on how long they can stretch it before they get infected with some of the more aggressive strains of bacteria, their life expectancy and life quality will be better or worse. Once infected by some of the antibiotic resistance and more aggressive strains of bacteria, mortality rates can go up quite significantly. For those who get the “mucoid” type infections early on in life, mortality rates before the age of 25 still seem pretty significant, with many of them needing a double lung transplant before their mid twenties. Double lung transplant combined with CF is no joke, so some of these kids die in the first days or months after the transplant. Their life is also a lot more dictated by the CF; lots of physiotherapy, medication, hospitalization and all the side effects coming from the CF and medication. Once they make it through the lung transplant in my personal experience life often treats them better, but yeah, CF is still a very very serious condition. Edit to clarify some points. Almost all males with CF are infertile. Females with CF experience much higher than typical infertility as well. I watched the movie Alex as a kid and it was so tragic. She had CF, true story. If both parents are carriers is it 100% the child will have it? The newer treatments are unbelievable - they’re limited to very specific mutations for now, but the success of those therapies are extending our knowledge by leaps and bounds. It’s unreal. What is Promethease? My results didn’t show the BRCA mutation on 23andMe but my mom had breast cancer and didn’t have a genetic test, so I’ve always been worried/curious. Th baby tested positive as a carrier? Or as having CF? If it’s the latter, is there anything you guys can do to increase the baby’s health since you’re finding out so early? The list provided by 23andme is [what makes sense to provide medically](https://www.reddit.com/r/23andme/comments/a13ww6/comment/eb4fldb) from a microarray. In contrast, going to Promethease virtually guarantees that you'll find something that's supposed to make you sick. *No matter if you are or not*. /u/reniram I recommend that you stay happy for your health. Agreed. Every breath is a struggle. It's hard for people who don't have CF - I don't have CF but educated on the topic - to understand what it's like to struggle to breathe, to be on a strict antibiotic regimen, to plan your life around your therapies/hospital/etc. 25% chance Oh, my gosh, it is amazing to see a CF patient in their 30s have their lung function go up by 15 percent after a few weeks on one of the new meds. Dang. Can't tell you what a thrill that is. https://promethease.com/ It's a project that gives you a health report based on your DNA upload. It is NOT diagnostic level at all though. It caught my BRCA2 mutation, it did not catch my mom's. We confirmed with testing through Color.com. Their test is diagnostic level, can go in medical records, doctors consider it reliable. They say it is not diagnostic level and to be fair it isn't because of what the government and FDA determines as "diagnostic level". Promethease does a really good job but one gripe I have with it is that there is a higher chance of false positives with some of the rarer diseases. 23andme is usually better than ancestrydna when uploaded to promethease. ​ Promethease was able to tell me I have homozygous taq1a which encodes for 30-40% less dopamine d2 receptors. I was able to finally understand my quirks and made a connection between ADHD and dopamine. I finally understood why I was the way I was in school and why I am the way I am today. ​ Promethease also allowed me to figure out what medication I can take. HOWEVER, recenttly the FDA caused promethease to censor those results. Nonetheless, I was able to get the information pre censor before big government had to ruin everything. I am soon going to start Selegiline to preserve my dopaminergic system. I was on my way to potential Parkinsons in my late 60s to late 70s based on my genetics and scientific data but now I can significantly reduce those chances of getting a neurodegenerative disease. \\ > Promethease also allowed me to figure out what medication I can take. HOWEVER, recenttly the FDA caused promethease to censor those results. this is really interesting to me because i swear Genesight offers that exact service for cash Just looked up genesight and it is medical. Very costly unless your insurance covers it. Promethease was about 10 bucks for me. My next priority is to get my whole genome sequenced. That is really costly at the moment though. [POST TITLE]: I JUST FOUND OUT I’M A CARRIER OF CYSTIC FIBROSIS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I hope it’s comforting rather than frightening that you now have this knowledge. If the person that you choose to have children with does not carry the gene there is 0% chance your child will have CF. If they are also a carrier there is about a 25% your child will have CF. Yes, and strangely enough I had been researching CF (as a career) for 12 years when I found this out! I found out I was but thankfully my husband does not carry it. We were trying for a baby when we got our results back so I frantically had him look at his results. I did let my siblings know just in case they were carriers. Now you know and can plan accordingly. Did 23andme identify which mutation you carry? I just recently had carrier screening because I’m pregnant. I found out I’m not just a carrier; I actually have two copies of a CF gene so technically I can say I have CF! It’s the R117h mutation (7 variant). I got a copy from each of my parents. I’m still totally flabbergasted! The good news is that this mutation is very mild and causes little, if any, symptoms. Also, even if my husband was a carrier of the worst type (delta 508) and our son got a copy of each of these genes, my “mild” CF would cancel out the delta 508 so our son would still be pretty much in the clear. It also a good idea to pitch your raw data to 2-3 other trusted raw data analysis tools and refer a specialist or a genetic counselor before you come to any conclusions. Is this from the 23andme health report? Yeah I’m not with anyone so now I’m kinda like “will the person I meet have this gene?” I live in Utah which has an abnormally high incidence of CF but I was still a bit surprised as my mom’s family are immigrants. Got my mom and grandma tested, they don’t have the gene. Must have got it from dad. Too bad he’s dead so I can’t get h M tested. Tried to get my half brothers to do it but they’re afraid of the govt having their dna or something. Yes. [POST TITLE]: CYSTIC FIBROSYS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] There are over 200 mutations in the CFTR gene that (when co-inherited) lead to cystic fibrosis. See SNPedia's [Cystic Fibrosis](http://www.snpedia.com/index.php/Cystic_Fibrosis) page for full details (and especially the table that you can expand, which shows which mutations are tested by either Ancestry or 23andMe). 23andMe actually tests considerably more than 26, but they only "report" on the 26. The data for the rest are in the raw data, which is what Promethease uses when it creates a report. The best thing for you to do is to find out exactly what mutations your mother was found to have, and with that information, you can see if those mutations are tested by 23andMe (or any another company). There are also "mild" mutations, as well as "modifier" mutations, both of which lead to milder cases of cystic fibrosis, and speaking with a genetic counselor is probably one good way to learn more about your specific family situation. SNPedia maintains a "[Find a genetic counselor](http://www.snpedia.com/index.php/Find_a_genetic_counselor)" page to help with that. You aren't necessarily a carrier. My mom and dad are both carriers. They had 3 kids. 1 has CF, one (me) is a carrier, and one is neither a carrier nor has the disease. [POST TITLE]: RAW DATA & 3RD PARTIES [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Not sure if this helps, but I found the 27 markers 23andme uses to determine carrier status. Those are: DeltaF508 Gene: CFTR Marker: i3000001 DeltaI507 Gene: CFTR Marker: i4000292 G85E Gene: CFTR Marker: i4000294 R334W Gene: CFTR Marker: i4000296 R347P/H Gene: CFTR Marker: i4000297 A455E Gene: CFTR Marker: i4000291 V520F Gene: CFTR Marker: i4000299 G542X Gene: CFTR Marker: i4000300 S549N Gene: CFTR Marker: i4000301 G551D Gene: CFTR Marker: i4000305 R553X Gene: CFTR Marker: i4000306 R560T Gene: CFTR Marker: i4000307 R1162X Gene: CFTR Marker: i4000308 W1282X Gene: CFTR Marker: i4000309 N1303K Gene: CFTR Marker: i4000311 394delTT Gene: CFTR Marker: i4000313 621+1G>T Gene: CFTR Marker: i4000314 711+1G>T Gene: CFTR Marker: i4000315 1078delT Gene: CFTR Marker: i4000316 1717-1G>A Gene: CFTR Marker: i4000317 1898+1G>A Gene: CFTR Marker: i4000318 3120+1G>A Gene: CFTR Marker: i4000321 3659delC Gene: CFTR Marker: i4000322 3905insT Gene: CFTR Marker: i4000324 3849+10kbC>T Gene: CFTR Marker: i4000325 2184delA Gene: CFTR Marker: i4000319 3876delA Gene: CFTR Marker: i4000323 This might be a good start: http://snpedia.com/index.php/Cystic_Fibrosis As I understand it, ethnicity can play a role in which SNPs are relevant. Has your 23andme account not been migrated to the new format? If so, you'll find the CTFR status under reports. If not, do you have access to your raw data? Thanks! I think I figured it out for the most part possibly. I just searched 'cystic fibrosis' in promethease. Then looked up each snp to make sure it caught em all. Not that all are even discovered yet I don't think Holy crap don't use 23andme for something that critical, go see a different Doctor! Excellent! I think the few weeks turnaround time is pretty standard for the test. I'm just trying to get some peace of mind in the meantime. It's probably dumb but I have lots of health anxiety on top of the real physical things going on Now I'm getting nervous about all the other stuff I'm finding haha. Is this the right sub to discuss it? Oh my! LOL! I think you can discuss your findings here. Maybe in new threads for visibility? I'm sure a mod can advise if I'm wrong. [POST TITLE]: DOES 23&ME'S HEALTH REPORT (OR PROMETHEASE USING 23&ME'S RAW DATA) TELL YOU YOUR APOE GENOTYPE? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] As far as I know, 23andMe only checks for ApoE4. I have two copies. :( Promethease might be a different story. There’s 2018 research showing that a lot can be done to significantly reduce the risk of Alzheimer’s. Please see the following 2018 published scholarly article on Alzheimer’s: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907312/ From above article abstract: “the long latency between the initial neuronal changes and onset of symptoms, the ability to identify patients at risk based on family history and genetic markers, and the emergence of AD biomarkers for preclinical disease suggests that early risk-reducing interventions may be able to decrease the incidence of, delay or prevent AD. In this review, we discuss six mechanisms—dysregulation of glucose metabolism, inflammation, oxidative stress, trophic factor release, amyloid burden, and calcium toxicity—involved in AD pathogenesis that offer promising targets for risk-reducing interventions. In addition, we offer a blueprint for a multi-modality AD risk reduction program that can be clinically implemented with the current state of knowledge. Focused risk reduction aimed at particular pathological factors may transform AD to a preventable disorder in select cases.” Podcast on Alzheimer's prevention between two brilliant researchers: https://peterattiamd.com/richardisaacson/ What does it say your % chance of getting Alzheimer's is? My friend's promethease report says 2.14x increased risk for Alzheimer's and he has two copies of ApoE4 too. Do you know how to convert the 2.14x increased risk into an actual %? This article provides some information on real risk by 85. Women are more at risk than men. Other factors also nudge risk. https://www.google.com/amp/s/www.theatlantic.com/amp/article/512396/ There is a correlation between actually getting Alzheimer's and being unfit and overweight too. The cause of that correlation isn't well understood just yet, but it's generally good advice right?! Alzheimers.org.uk has lots of useful information. https://www.alzheimers.org.uk/about-dementia/risk-factors-and-prevention/how-reduce-your-risk-dementia [POST TITLE]: KNOWING WHAT YOU KNOW NOW... [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I don't worry about it because there are new advancements every day. I'm 33..so maybe by the time i'm 63 things will have advanced enough since it's 30 years from now I absolutely would. I know it may be scary but knowing won't change the odds. If anything it just gives you the chance to prepare and makes you realize that life means more than you realize I knew I would get the Alzheimer’s gene. My great grandma and my grandpa all had/have either Alzheimer’s or dementia or something memory related. I did get it and so did my dad, I got 1 variant. It was a little upsetting but at the same time it’s one variant and there’s a bunch of other things that influence it and that I can do to lower my risks. I also uploaded to promethease and a bunch of markers for dementia and Alzheimer’s came up too. I got both tested variants for age related macular degeneration which scared me. My vision was perfect up until 2 years ago and I’ve noticed in class it’s getting worse. It’s something that happens in old age but it still worries me whenever I notice it even though I’m only 23 Regardless I don’t regret it, and if I had gotten something more serious I’d rather know and take precautions. I was also expecting it so I thoroughly read my results on promethease and it didn't affect me at all, live your life as you normally would it's better to know just in case you do feel something is wrong you can have some insight or if want to change your lifestyle a bit after learning things you can but don't stress just because you have genes that are bad it doesn't mean it will happen to you [POST TITLE]: CAN YOU DO ANYTHING TO PREVENT ALZHEIMER'S AND PARKINSON'S IF YOU HAVE THE GENES? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Yes you can! For Alzheimers anyway. In recent years two clinics have published research on treating patients and slowing down and claiming to reverse Alzheimers with targeted supplement and lifestyle interventions. Alzheimers takes quite a long time to develop and if you have risky genes the sooner you start a preventative regime the better. We have Alzheimer risk genes in our family and are following the program. So if you don’t look at the genetic reports you won’t know if you’re at risk and should be doing this. Dale Bredesen’s book “The end of Alzheimers” outlines his program. The other expert is Dr R Isaacson his website also has info. That's an interesting question, I haven't done the 23and me test yet but as a nurse I worked in an Alzheimer unit and remember talking with the doctor in charge, he told me the parameters of the desease are so wide it's hard to get a patern. It's not only genetic there is also an environmental part who plays a role and it's difficult because there is a grey zone. We (the team doctors/nurses who worked there) noticed there is often secrets, hidden things who torture the patients (but not every patients had some so maybe just released by the mental illness I don't know) I don't know if knowing or not really matter at the end, if you're anxious and keep thinking about it that's not great, I suppose being in peace with yourself is all that matter. [removed] There are quite a few things you can do against Alzheimer's. Check out alz.org for more info, but good diet, some physical activity and, above all, enough sleep is crucial (at least 7 hours a night, but aim for 8-9). Parkinson is harder to prevent, but exercise and some nutrition choices seem to help. Also, there are some quite effective drugs that help manage the disease. If you experience symptoms, of course, go see a doctor asap. Dale Bredesens book seems very promising. I also have the Apoe gene and family history This is interesting.... can you clarify a bit? Are you saying you (as clinicians) noticed a disproportionately high share of Alzheimer’s patients who seem to struggle with emotional turmoil (e.g., secrets held by the patient?)? Or did I completely misunderstand? I wonder if there have been studies of this? Very interesting!! Your post was removed due to violating our advertising policy (Rule 3). So there’s no real benefit to knowing if I have the gene? I can make sure to do those things regardless. I have a copy of ApoE4 and was really relieved and encouraged by the info in Dr. Bredesen's book. The ApoE4.info page on Facebook also posts all the latest on preventing Alzheimer's. I was very interested in it too! At the very least the disease (alzheimer or some demencia) definitely release the secret, often in a ugly way, then come weird conversations with the family. It's often cheating (being cheated on or being the cheater) or abandoned child, dead child covered all those stuffs kinda comes up. That specific doctor one day scolded me because I was a little too "specific" on the scientific side (neurones degeneration) talking with the family and told me studies aren't that specific with lots of weird cases where a person wouldn't shown lots of signs during her life but after death during autopsy her brain shown lots of damage, and others who had horrible signs of advanced alzheimer but the brain showed few damage. That doctor thought your story, and the way you deal with problems and emotions is how you get sick or healthy, and in old age (she was gerontologue so specialized in old age demencias) your brain kinda "cristalize" in a mood. As a student I went to a retirement home for catholic nuns and priests and that was pretty rough, all that repressed frustration doesn't make you age well I'm telling you... I tend to believe the same, but it's just from what I saw or been told so I don't know any studies. I think I saw a huge study on happiness going on several decades who shown the most social connections you have the happier you are it was probably on youtube Edit: that was also about 10 years ago, science and genetics have made big improvements since so take it with a grain of salt. I know I'll check the gene with my results x) I have the Alzheimer's gene. I feel it benefits me because now I know that if I'm having subtle symptoms (trouble word finding, etc.), I can seek help early and not try to brush the symptoms off as simple aging. My dad had Alzheimer's, diagnosed about a year before he died of a heart attack at age 69, so I knew I was at risk. His case was mild when he died. Now I know I have the gene, and dad didn't have a random form. I feel like I would be able to make some decisions sooner. I personally like having more info. Sticking my head in the sand isn't useful, and there are meds to help somewhat with memory. Will the info totally change the trajectory of my experience? Of course not. Am I now willing to look for early clues, does my husband now know to look for early cues, so I can get the earliest, best treatment? Yes. But to each their own. It sounds like you don't want to know, and I don't think a random internet person is going to change your mind, and that's okay too. For me, I like the feeling of knowing, because there are things I can do to make decisions earlier than I would have otherwise, and know that I need to act on questionable symptoms early. It’s a fascinating theory!! Thanks for sharing! Have you read Dr. Bredesen's book The End of Alzheimer's? It's full of extremely useful info for carriers. There's actually a lot you can do, even if you're showing symptoms. His program has reversed many cases of MCI, as well as at least one more advanced case. Understanding the subtypes of Alzheimer's (inflammatory, hypotrophic, "diabetes type III", etc) is really vital information for preserving your brain function. I’m open to it, I just wanted to know what people felt the benefits were to knowing. You make a lot of good points. My grandmother had early onset Alzheimer’s and died at 66. They said it wasn’t genetic and was related to a factory she worked in, but I’m still concerned for my dad and myself. Thanks for the tip. I will check that out. I actually cried a little with relief when I read it. As a carrier, I found it incredibly empowering and encouraging. One tidbit that's not in the book is that there are studies showing that exercise has a special protective effect for carriers, dropping their risk down to nearly non-carrier levels. The way I see it is that this gene is an old hunter-gatherer gene that leaves a lot less wiggle room for unhealthy modern diets and lifestyles. Like a canary in the coal mine gene. [POST TITLE]: CAN ANY SITE TEST FOR SCHIZOPHRENIA? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [deleted] Impute.me tested for a lot of genes associated with schizophrenia. Upload your raw file Promethease.com it is free I uploaded my husbands and my 23andme raw data to Promethease & we both have lots of genes that are associated with schizophrenia and bipolar. We don't have it but sometimes I wonder if some things we worry about or do is a sign. Now that I'm older I hear family members have kids with ADHD & austism. Our son was diagnosed with Bipolar he's got problems. Not everybody develops these mental illnesses but I guess it's good to have a heads up! There is no genetic test for schizophrenia per se. There are genes that researchers have identified that may be associated with schizophrenia. But all mental illness is polygenic and also affected by environment. So just knowing you have some genes that might be associated with schizophrenia isn't a diagnosis. It's pretty close to meaningless. I understand, I mostly just wanted to see if I carry these genes, as the MS Parkinson's, and tourette's was believed to be flukes, but schizophrenia is running rampant. My 2nd cousin said several others might be showing early signs of it, and so far, it's mostly in our men, with my cousin being the first known female. Google also states that trauma (physical/sexual abuse, or a traumatic death) seems to trigger schizophrenia in people who have the genes. All the people who currently (including my 2nd cousin deceased father) were substance abusers, and I'm aware that my little cousin was also going through a lot of bad family issues (that side of my family is really fucked up, and her mother is a pos, who shacked a pos guy who was not nice to my 3 little cousins). I have 2 schizophrenia, more then 2 Parkinson's, several ms, and 1 tourette's genes. The Parkinson's(moms brother) and tourette's(mom) seem to have been triggered by an allergic reaction in the brain to medications both these people were on (the same medication for depression). I'm mostly just want to keep an eye on the schizophrenia as I have a toddler, and my sister has 2 boys, with a 3 being wanted. Being aware of this just means that we could possibly catch it early, and maybe our children wont end up like my great uncle. The family disowned him because he was schizophrenic, and that sent him over the edge and made him stop treatments. ☹ Yes, I agree with this recommendation. Because it takes all the schizophrenia SNPs into account into an overall score. You can't use Promethease for schizophrenia. There's hundreds of SNPs associated with schizophrenia. Promethease will leave you clueless because you'll "have some of them". But it's actually the balance between how many good and bad that matters I understand and agree. My moms side has schizophrenia running rampant among us, with my 1st cousin being one of them. So it absolutely is a real threat to my child, and my sisters children. Both of us are also trying to conceive (well, shes unfortunately going through a miscarriage right now, but will get back at it as soon as the dr says she can). I'm not worried about myself or my sister. It's just something my sister and I want to be aware of. We're far more likely to go blind, as that's very strong in all individuals on my dads mothers tree. Luckily it mostly only rears its face over 80. Alzheimer's/dementia is the exact same on that same family line. Very old age is expected on both sides. As in mid to late 90s for non substance abusers. Substance abusers die by 70, except for grandpa c. No one including the drs knew how the hell he was still kicking at 93 (he was still walking, 100% lucid, and drinking right up until he was put on his death bed...took a week to die). He was a raging alcoholic with cancer everywhere (all the red flagged genes for specific cancers I saw today... he had them all... lung, throat, liver, pancreas, stomach, prostate, colon... the guy was more cancer then human lol... I joke, but he was not a good person). Edit: oh, and every other red flag was chrons... so I googled it, and well shit, the mild matches me exactly. It explains so much, so now I need to make an apt with my dr to get checked out. I'll also be getting my toddler checked too, as hes starting to show similar symptoms to me. Please read the comments, as I already clearly addressed this. I uploaded to this site, it's just a really long wait time. Totally understandable though. But it is another source of information. To correctly estimate any multigen trait, you use GWAS and a ZScore to get a significant value depending upon en your reference dataset, i.e. 1000Genomes. Still, it is free and anyone should use it as long as remain free :). Right I understand you're looking to see if you have the genetic component. I guess a better way of putting it is that the science on the genetics of mental disorders isn't quite good enough for 23andMe, which has to get FDA approval for the reports it offers. And all such a report could tell you anyway is that you have a higher risk of the disorder - which is something that you basically already know given your family history. It's not a disease with a simple inheritance like cystic fibrosis. There are multiple genes involved and you and your children are almost guaranteed to have some of them. Quantifying your risk is very hard and not something any service currently offers. So there's nothing you can do other than provide a good environment for your children, and get them mental health care if and when they show symptoms. Why, though? It's wrong. As you write yourself. What you describe is essentially what impute.me does, and that's also free. That's the part as an adoptee that I've found invaluable, because I had no family history to consider, so knowing there's an increased risk in a particular issue as evidenced by a variant is helpful to me, just to keep an eye on something (even with the caveat that they don't test for all variants of something . But you are totally right that knowing the incidence is say, 1:200 instead of 1:1000 is just that, a statistical increase in possibility, but not a given that it will be an issue. As well, some of these things we carry can be activated or expressed later in life, triggers, as it were, and we don't know what those triggers are. u/Digimonsterr You mentioned a few triggers for schizophrenia, and I just wanted to add there are others, such as drug use, so your best recourse is to research the illness itself for the latest info. Another think you might do is draw out a family tree, even with the overlapping branches, to determine which branches seem to have the trait, since it seems to be related though a great-grandparent, if second cousin is the closest relative with it. It may be that reduces your statistical likelihood. You can use the Leeds method with a spreadsheet to separate out your matches into groups, then cross reference it with known incidences of expression. > if second cousin is the closest relative with it. It may be that reduces your statistical likelihood. You can use the Leeds method with a spreadsheet to separate out your matches into groups, then cross reference it with known incidences of expression. 2nd cousin does not have it, and is past the age of getting it. His father had it. My 1st cousin has it (my mothers brothers kid). So its def in my tree. We know it comes from my grandmother (moms mom), as my 2nd cousin is not related to my grandpa (my moms father). I personally cannot build a tree, as I don't speak to that side of the family. My moms brother has an incredibly detailed family tree, which includes known illnesses like his Parkinson's, my mothers tourette's, his daughters schizophrenia, his aunts MS, etc. When my mom passes, I'll have access to that side of the family again. [POST TITLE]: PROMETHEASE REPORT SHOWS 6.5 MAGNITUDE FOR PARKINSON'S [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Tremors don't necessarily mean Parkinson's. And, several people who have Parkinson's don't actually have any tremors. I'd suggest your friend just go see a Neurologist, in particular a movement disorders specialist. It will give him peace of mind. And, if he does have early onset - he can start to treat. I have a tremor called essential tremor. This tremor happens when your hand is in motion. It can also occur in head, jaw, legs, vocal cords etc and is genetic. I mention this because tremors can be from a lot of things (even small things like electrolyte imbalances). He/she could go see a movement specialist or mention the test and tremors to a doctor who may refer out. Knowing risk may seem like it’s scary but really it empowers you to ask the right questions and get help early. Ianad but to my knowledge, no risk magnitude is a guarantee/diagnosis of disease. Additionally, the tremors you noticed could be completely benign. You should do everything you can to remind your friend of this and help them remain calm. Instead of cause for panic, a high risk magnitude indicates it may be worthwhile for your friend to seek professional genetic counseling. Although it might be easiest to start through their primary doctor, many general practitioners and neurologists might not really know what to make of the 23&me results, so your friend should be prepared for that and push for whatever clinical genetic testing/counseling options they can get. Your friend can bring their 23&me based results but it is likely a genetic counselor would recommend clinical testing targeted at Parkinson’s to confirm the genetic risk factors and do any real evaluation. In the meantime, encourage your friend to remain calm. Your friend probably really needs you (and anyone else who knows the results) to be level-headed voices of reason about the health implications. By all means, encourage them to see a doctor, but remind them that this direct-to-consumer testing is not a diagnosis and that tremors can be completely normal or due to a variety of less severe health concerns (like blood sugar levels). Your friend probably doesn’t have Parkinson’s, so you can stop telling him that. If he’s really that concerned then he should go see a neurologist. The results obviously aren't definitive, but they're definitely enough to suggest that your friend book an appointment with a neurologist or mention it to his primary care doctor. Does he know of any family history of Parkinson's? My report showed a 8 magnitude for Parkinsons, but like some other commenter said there have been only two males who have had it in my extended family, no females. None of my parents or grandparents had it. SO i don't think a high magnitude means you are definitely going to get it, its just a risk factor. Its seems like why some people get Parkinson's might be a mixture of genes interacting and environment too. Yep, he was diagnosed with essential tremors when he went to the doc about it a few years ago. Doc told him to drink more alcohol lol and i love how you put it! You are right it will help him ask the right questions I know he doesn't have it currently. It was just surprising that something I said showed up at the top of his report and all throughout the report he had other elevated risks for parkinson's. I was curious as to what a magnitude of 6.5 would mean. He did go to his primary for his tremors after I said something back then (apparently the tremors had him worried as well) and he was diagnosed with essential tremors. He does have other symptoms too, like depression, but they could easily be unrelated. no family history that he is aware of. Unfortunately both of his grandfathers died before they were 50. But there are no women in his family with it. He can take propranolol (what I’m on) or primidone instead of alcohol but yes alcohol helps lol! A neurologist specializing in movement disorders can also help if it becomes more worrisome for him. I'd strongly suggest he goes to a Neurologist. PCP's for the most part are not really equipped to diagnose or treat neurological diseases (Parkinson's or Essential Tremors). [POST TITLE]: EXPERIENCE WITH THE ALZHEIMER’S AND PARKINSON’S TESTS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I would do them for my kids, they deserve to know I have a family history of Alzheimer’s so I wasn’t surprised when my report said I had an increased risk. It didn’t change my life in any way- an increased risk doesn’t mean that I will for sure get it. I suppose in the future if I do start feeling confused it might trigger myself to be more likely to get checked out by a doctor rather than brushing it aside. My mom had the test done as well but she didn’t care to know her Alzheimer’s results even with her family history so she has never viewed them. I’m happier that I done it. My great grandm had Alzheimer’s but thankfully no traits popped up on mine I found out from 23&Me that I had one of the variants they check for for late onset alzheimers. It really didn't cause me that much distress. The way they describe the increased risk and everything makes it seem like not that big of a deal. However, when I ran everything through Promethease and saw the whole picture, it was a lot more distressing. Honestly, I kind of regret it. There's very little I can do about it. Maybe if I were wealthier and I were in a position to do better financial planning for my retirement it would make a difference, but I'm not even in a position to do that. I keep telling myself that this means that I should just try to live my life as best as I can right now and enjoy it while I can, but since I have a history of depression and anxiety that's rather hard to do. The one good thing that came out of taking the test was that I was able to make some better informed choices about my medications. Knowing that I have an increased risk of alzhiemers, I talked to my doctor about getting off of a medication that has been associated with alzhiemers. It hasn't been confirmed yet, but given my genetic risk I no longer want to take any chances. I chose to view my son's results, and he has the probability for late onset Alzheimer's. I don't regret finding out though - I figure it is always better to know than not, and the information might be useful later on with any medical issues he might have. What was more worrying were the coronary issues that he might have a higher susceptibility to - but again, good to know. My dad has Parkinson's and my mother's dad also had parkinson's so I was fully prepared to see a variant detected, but to my surprise they didn't detect any of the variants they test for which I was very happy to see. If you have variants it doesn't mean 100% you will get the disease, and likewise if you don't have variants, it doesn't mean 100% you're in the clear. There are other variants that they might not test for, also environmental factors and how healthy your lifestyle is contributes to the chances of getting certain diseases. I didn't do the health report but I ran my raw data through Promethease. I have one copy of the Alzheimer's gene, APOE4, which doubles my risk. My grandpa had Alzheimer's so I wasn't surprised. I'm glad I know this because there is research showing that E4 carriers can significantly lower their risk with exercise and with DHA supplementation, that saturated fat seems to be a unique risk factor, and that a more Mediterranean style diet may be protective. If I hadn't have known, I wouldn't have been as likely to make some dietary and lifestyle changes. I was part of the clinical study group on 23andme. 100's of questions, medical background, all sorts of stuff. Fun in a way, but the early group gave us everything! Thankfully I knew the odd of Parkinsons in a persons life time is 1 in 1000. If you have the specific genetic component as a 2.0 risk, that means twice the risk. So a 1 in 500 odds! I have the "other set" of genetic markers. There is a well known marker, but part of the reason I was in the study was to identify other markers. Low and behold about 1/3 of those with Parkinson's had another set of genetic markers. What isn't clear is the relationship to that marker and Parkinson's. Bottom line is enjoy life and don't worry about the what if's. For those with, and family and friends, stop by /r/parkinsons Here's a sneak peek of /r/Parkinsons using the [top posts](https://np.reddit.com/r/Parkinsons/top/?sort=top&t=year) of the year! \#1: [/r/Parkinsons has over 1000 members](https://np.reddit.com/r/Parkinsons/comments/6fdnvr/rparkinsons_has_over_1000_members/) \#2: [My Parkinson's Journey](https://np.reddit.com/r/Parkinsons/comments/658cm4/my_parkinsons_journey/) \#3: [The Senate is considering a health care proposal that would once again significantly harm the Parkinson's community.](https://np.reddit.com/r/Parkinsons/comments/715y1g/the_senate_is_considering_a_health_care_proposal/) ---- ^^I'm ^^a ^^bot, ^^beep ^^boop ^^| ^^Downvote ^^to ^^remove ^^| [^^Contact ^^me](https://www.reddit.com/message/compose/?to=sneakpeekbot) ^^| [^^Info](https://np.reddit.com/r/sneakpeekbot/) ^^| [^^Opt-out](https://np.reddit.com/r/sneakpeekbot/comments/6l7i0m/blacklist/) interesting, i've been trying to get my dad to try medical marijuana and i think he's open to it after I showed him a video of a mans tremor essentially disappearing after using it. what are your thoughts on medical marijuana? have you tried it? It may help. For me (lack of) sleep is my biggest issue. Oh, how my body needs sleep. Sleep is elusive some nights, so my hallucinations are much worse when I have only three hours of sleep. Months of three hours of sleep, and oh I can barely function. I did find edibles helped, but about a 1:1 THC: CBD ratio. 5gm or 10gm dose. It's Illegal where I live, and we have DA's who go after people like crazy (easy targets to show they are tough on crime). I would have him try it, for me it has to be small edibles as I have lung cancer, never smoked. Hate smoking (hard enough to breath) so edible. [POST TITLE]: GLAD I PAID ATTENTION TO MY HEALTH RESULTS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] > low accuracy of 23andme tests Is this the standard shade medical professionals throw at any self-serve health tests/tasks people do or is there a documented accuracy problem when it comes to specific variants and false positives/negatives with 23andme? That's awesome that you found that out! I found out that I have one copy of a gene that causes a pseudocholinesterase deficiency through 23andMe, which I never would have known about otherwise. This means that I either shouldn't be given certain anesthesia drugs, or that I may need an extended amount of time on a breathing tube during surgery recovery since I don't make enough of an enzyme that breaks down the drugs, so my breathing muscles may stay relaxed longer than most people. I also find out that if I use cocaine, my heart will probably stop beating. (Not that I ever planned to use it, but good to know!) Wow, so glad you have the forewarning on this condition. There are so many issues that we can't even screen for, that it's especially amazing when it can help you with a life threatening potential crisis. I found a close relative has both copies of another mutation and has a life-threatening condition. (I do not.) What no one mentions is that at least in my area you can’t just make an appointment to see a genetics counselor. You have to be referred and with physician attitudes towards tests and patient hysteria about things like MtHFR it’s hard to be taken seriously. My promethesase had a concerning varient for PTEN but my doctor wouldn’t consider ordering a test to verify it. Wow, that is great that you read the fine print and pursued that. I think most of us just don't pay attention to those details. That knowledge certainly will make going in for surgery a safer procedure. I checked my raw file with R and [a list of genes related to MCAD](https://www.snpedia.com/index.php/Medium-Chain_Acyl-CoA_Dehydrogenase_Deficiency) 1) read the 23andme file `dnafile` ``` df <- read.table( dnafile, sep="\t", header=FALSE, colClasses=c("character", "character", "numeric", "character"), col.names=c("rsid", "chrom", "position", "genotype")) ``` 2) setup a table with MCAD risk alleles ``` pat <- tribble( ~rsid, ~rs_allele, ~iid, ~i_allele, ~allele_frequency, "rs77931234", "C", "i5012759", "G", "minor", "rs121434280", "C", "i5012758", "C", "minor", "rs373715782", "T", "i5012760", "T", "minor", "rs762114560", "T", "i5012755", "T", "minor", "rs121434281", "T", "i5003117", "T", "minor", "rs121434282", "C", "i5003116", "C", "minor", ) ``` 3) Try to match the rsID ``` match <- merge(x=df, y=pat, by="rsid", all.y=TRUE) match %>% select(rsid, genotype, rs_allele) ``` my result is ``` rsid genotype rs_allele 1 rs121434280 TT C 2 rs121434281 T 3 rs121434282 GG C 4 rs373715782 T 5 rs762114560 T 6 rs77931234 C ``` 4) try the "i"IDs ``` match <- merge(x=df, y=pat, by.x="rsid", by.y="iid", all.y=TRUE) match %>% select(rsid, genotype, i_allele) ``` my result ``` rsid genotype i_allele 1 i5003116 GG C 2 i5003117 CC T 3 i5012755 CC T 4 i5012758 TT C 5 i5012759 AA G 6 i5012760 CC T ``` Hmm, I am glad that I am not even a carrier of MCAD. Sounds like a really dangerous gene mixup My 23&me results revealed that I’m a carrier of the MCAD variant, too. I only have one though and I’m so thankful for that since my daughter will be born in less than a week! Good for you for being diligent and finding out the correct information about your health. I had never even heard of MCAD before I did the DNA test. Coincidentally I have one variant for Celiac, too. We must have some similar patterns in our DNA. Is MACD the SNP [rs77931234](https://www.snpedia.com/index.php/Rs77931234)? I could not find it my raw file. Okay this is interesting to me. A condition related to MCAD, ie LCHAD, is associated with Acute Fatty Liver of Pregnancy. I had that, but my baby didn't have LCHAD because that is tested for in the newborn heel prick screen. So we don't know why it happened to us. What they think happens, is during pregnancy, if baby has LCHAD, baby's body can't process fats, so mom's liver gets overloaded and liver failure happens. I didn't see where 23andme tested for any of this so I will have to have a closer look. [deleted] This is anecdotal but my genetics professor (PhD from Duke) recommended 23andMe as an interesting and cheap option for testing (both ancestry and health). He also recommended that if anything of interest was discovered to see a genetic counselor for actual medical advice. I think it has more to do with what that data means. Genotyping really isn’t that difficult, undergrads (including myself) at my university do it all of the time. This however, isn’t anecdotal. This is directly from 23andMe “This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed in a clinical setting before taking any medical action”. That’s something I want to know. I can’t help but imagine a medical professional would rather you go through their institutions tests rather than do one yourself So my genetic counselor basically told me that 23andme is pretty notorious for false positive results. I haven't seen any data to really back that up though, so maybe she's just speaking from personal experience. There are lots of peer reviewed journal papers showing DNA from saliva is significantly less accurate than blood. However for logistics and cost reasons saliva is of course much easier... I'm lucky that my ObGyn has a genetic counselor in her office so it was easy to get in with her. It did suck because my obgyn had never heard of MCAD deficiency, and even though I tried to explain it to her multiple times she didn't seem to grasp the fact that MCADD can be deadly. She was more focused on attributing my anxiety to my mild hypoglycemia episodes. It was super frustrating. It should come up if you search i5012759 This is good to know, thank you! That advice is perfectly sensible, it's the "low accuracy" line that causes me confusion. "Insufficient context" or "requires professional interpretation for full understanding" is quite a bit different from 'inaccurate'. The false positive problem is very true. They make up a large percentage of results that happen less than 1 in a thousand people. Overall the data is highly accurate. But the few false results often by random chance fall on disease causing SNPs. The reports generated by 23andMe are from a CLIA lab. Meaning the results are verified by extra testing. Those reports don't cover very much of the raw data thanks to the FDA. If you take your raw data to a third party service like Promethease, they can't do extra testing and results can have flaws. The false positives are noticed mainly when people take the data to third party services to have a more comprehensive analysis of the raw data. > so maybe she's just speaking from personal experience. Possible, my question is also whether or not it might be the general disdain medical professionals seem to have for anything non-doctors do to learn about their health. See: the dismissive "Oh, you asked Doctor WebMD/Google?" from some doctors, for example, when someone grows concerned about a change to their health and finds that the symptom matches a common one for something concerning. I've heard some of the mocking of this that goes on behind the scenes from a couple of Doctor friends who treat even benign questions that reference something they read online as being no different from a raging case of hyprochondria. :) Hope that makes sense. tldr; sometimes it's not even personal experience so much as bias against stuff a patient does on their own that takes place outside of their office Are you pregnant? Curious why you went to OBGYN instead of a family doc? Strictly because of the genetic counselor? Sorry, just asking because I’m finding myself in a somewhat similar situation I agree, those are two widely different scenarios. Good info with bad assumptions is much different than bad info. I have been holding off on these tests because of reasons like that and for privacy reasons. > SNPs So, for us normal people, what are those? Are you a doctor or something? I'm noticing that your takeaway from this is that 23andme helps provide extra testing, which is crippled by the FDA. 3rd party services CAN do further analysis, but can't do extra testing. End of story, we are getting BS noisy data either due to the FDA or 3rd parties not being allowed to re-test. EDIT: OP took SNP out of the comment after my comment Nope! I'm seeing a reproductive endocrinologist for endometriosis and she has a genetic counselor in her office, so I just mentioned my concerns about MCAD and she easily got me in with her genetic counselor. If you don't mind me asking, what is your situation? and feel free to PM me SNPs are just a short genetic change at a certain location. If you do anything with genetics you will see the term frequently. The FDA is acting on the medical belief that many doctors believe. That belief is "If you give the patient data about themselves, they will harm themselves". So consumers in the USA aren't allowed to buy any device that provides both medical data, and medical interpretation. Only a doctor is suppose to be able to buy these devices. So... The FDA came down on 23andMe really hard for providing genetic analysis of data they provide without a doctor's prescription. For a few years they could not provide any type of health report. Now they have exceptions for only a few of the diseases that they use to cover. 3rd party services get around the FDA requirements by not being the provider of the data. Therefore the FDA can't bother them. But they also don't have access to the original sample so they can't offer medical grade retesting. If 23andMe were to require a doctor's prescription for the health report service, they could do whatever they want. And other "direct to consumer" companies are hiring an "in house doctor" to write prescriptions for every purchase. It is controversial practice that the FDA hasn't ended yet, but could happen at any time if the practice draws too much attention. SNPs (single nucleotide polymorphisms) pronounces “snips” are basically locations that represent genetic variation for a certain trait. Each SNP has a combination of two alleles (one from each parent) so there are three possible combinations AA, AB or BB. Researchers look for correlations between the combinations of alleles at these locations and traits of interest such as diseases. Let’s say they identify a SNP and find that people with AA at that SNP have a very high likelihood of contracting a certain disease by the time they’re 40. If they can confirm that link, they can then use that information to predict the chances that a certain person will contract that disease. It’s not 100% which could be because of other genetic markers that also influence but haven’t been discovered yet or non-genetic environmental factors or some combination of both. Maybe that was too simplified but I hope that helps. Be a little more honest in your communications is all I ask. > The FDA came down on 23andMe really hard for providing genetic analysis of data they provide without a doctor's prescription. For a few years they could not provide any type of health report. Now they have exceptions for only a few of the diseases that they use to cover. This is totally doctors being protectionist and not helping progress. So why did OP edit SNP's out right as you made your comment? I'm not sure where you are coming from. Many Doctors are unrealistically protective on this subject. On a regular basis r/Askdocs receives request to shut down by medical professionals. So do many other support group forums for health situations. StackExchange established a medical forum, and refused situational questions. The reason they refused situation questions is because doctors they consulted provided them with the medical myth that it will result in wrong answers that will cause people to harm themselves. The situation is slowly changing as studies show that patients are proactive and evaluate advice in context. And on forums poor advice is corrected in an average of 4 hours. But the myth that only doctors in a doctor's office can give non-harmful advice persists. Here's a sneak peek of /r/AskDocs using the [top posts](https://np.reddit.com/r/AskDocs/top/?sort=top&t=year) of the year! \#1: [Wife died in her sleep, looking for places to start looking for a cause](https://np.reddit.com/r/AskDocs/comments/9l1u31/wife_died_in_her_sleep_looking_for_places_to/) \#2: [UPDATE: Flu is worsening, should i get myself to the hosp or am i being silly](https://np.reddit.com/r/AskDocs/comments/9cilrt/update_flu_is_worsening_should_i_get_myself_to/) \#3: [Extremely Worried about My Husband - Please Help](https://np.reddit.com/r/AskDocs/comments/81e9jy/extremely_worried_about_my_husband_please_help/) ---- ^^I'm ^^a ^^bot, ^^beep ^^boop ^^| ^^Downvote ^^to ^^remove ^^| [^^Contact ^^me](https://www.reddit.com/message/compose/?to=sneakpeekbot) ^^| [^^Info](https://np.reddit.com/r/sneakpeekbot/) ^^| [^^Opt-out](https://np.reddit.com/r/sneakpeekbot/comments/8wfgsm/blacklist/) [POST TITLE]: I GUESS I CAN'T ESCAPE MY DESTINY; I HAVE/HAD A GRANDPARENT ON EACH SIDE WITH DIABETES [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Typical likelihood means that you're NOT at increased risk. Why are you complaining about having a Good result? I’m at 56% plus have other health issues that I have increased likelihood of getting, yours actually isn’t too bad. Plus diabetes is something that can often be avoided and treated with better diet etc. don’t worry yourself too much 😊 Mine is also 32%. My father had diabetes in his 90s. This risk seems to be based on genetics more as in where you came from than actual DNA variants but what do I know- not giving up the wine just yet. This was also the only test I “failed” so far. I came up positive for the macular degeneration and Hemachromatosis as well. Actually, yours is identical to my mothers. I inherited a gene for hemachromatosis from my father too, so I have an even higher likelihood! I have to get my iron regularly tested :) What’s your percentage? I’m like 42 and both my parents have it Note; why did this get downvoted?! I have very low iron constantly 32% my parents are fat but don't have it...yet. Damn. I’m 45% likelyhood. How do we prevent this? (I have no relatives with Diabetes so I don’t know. Just exercise and healthy food?) They gotta see an endo and lose weight. My parents were relatively thing but very sedentary take them for walks You have to monitor your body fat and your activity levels. So many problems when your blood sugar is out of control. I had a coworker whose husband was diabetic and just dropped dead last year from a stroke. No one knew till the autopsy. My mom is getting the gastric sleeve and she already goes to the gym. My dad has a more active job but is still fat. Oh shit that last part scared me the fuck. I’m normal”ish” body weight but eat very unhealthily. Thanks 🙏 sm 🙏 It’s not a result of activity. It’s just caloric intake vs output It’s not a result of activity. It’s just caloric intake vs output You gotta avoid carb/starchy food(candy and soda). If you overwork your pancreas for years you’ll develop insulin resistance which is diabetes [POST TITLE]: FACTOR 2 VARIANT [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] My test showed the factor 2 variant, and about 2 years ago I tested positive for the factor 2 mutation via the blood test. We have a family history though, so I knew about it before being tested and had to get the testing done to see if I could have estrogen based birth control. Because I have the mutation, I can only do progestin-only birth control so I'm on nexplanon now. I haven't had any blood clots though, as far as I'm aware. Thank you! I had no family history regarding this. I am having my family tested now though. Also one more question, are you on blood thinners? It's always good to know. After I tested positive my mother got tested, but oddly enough she tested negative. The mutation definitely comes from her side since her sister, her brother, and her mother have Factor 2 and Factor 5, so she might get retested later just to make sure. Nope, my doctor just said to watch my diet and exercise. So some things she suggested were to limit caffeine and foods high in vitamin K, and make sure I walk around for about 10 minutes every 3 hours, especially on long plane rides. I'm not very old (only 24), and so most of my family members who also have the Factor 2 Prothrombin mutation didn't have issues with blood clots until their 40s or 50s or even later, and some of them were smokers and heavy drinkers so that contributed to them developing blood clots quite a bit. It’s a 50% chance getting it so maybe she didn’t! But I’d double check just to be sure! I’m only 24 too, I blame the nuvaring for causing insult to injury with the factor 2 now being a possibility. What’s odd is they never checked my blood for any disorders and I’ve had two children. I’m now going to get the paraguard IUD. Thanks to 23 and me I found it. [POST TITLE]: NEW HEALTH REPORTS READY TO ACCESS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I had one variant for late set Alzheimer's. Not surprisingly...I'm 40 and already can't remember day to day words etc. just glad it was only one variant! I also opted in. Also pan-negative. Same. Pan-negative I'm relieved to see that I was negative for all variants. My grandmother is currently suffering Alzheimer's so knowing I at least don't have the one variant was a relief. It's really hard to watch someone you love go through that disease. Thankful to be negative on all variants. My husband had a slight risk for late onset Alzheimer's though.. Are you Mae or female? One variant may not even pose a risk for men. Furthermore, this is no indication that you will develop the disease. Just higher risk for it. Day to day forgetfulness is normal! Whys that? Is he carrying one allele? With Parkinson's, there is one gene that will indicate you are TWICE as likely as the normal population to develop Parkinson's. Catch is over your life time, odds of Parkinson's is 1 in 1000. So twice as likely means 1 in 500. T put that into context, odds of being killed in a car accident is 1 in 100. Irony is the main genetic link that 23andme started searching for wrt Parkinsons, the LRRK2 is one I don't have an issue with. They did discover "people with Parkinsons, and negative for LRRK2 variation, had a cluster of another genetic issue." Yes, I was in the later group. "We detected one copy of the ε4 variant in the APOE gene" Thanks for explanation. Good luck to you, bro. [POST TITLE]: 4/7 POSITIVE GENETIC HEALTH RISKS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] The celiac tests specific traits and if you run your raw data through another site they will test for more / different ( this is not a techno jargon response) When you click celiac it specifically tells you they only tested a certain way. I got different results here elsewhere. I also have a slightly increased risk for celiac disease and age related macular degeneration and I have a variant for hemochromatosis even though it’s unlikely to develop. So basically everything except the hereditary thrombophilia. The only thing I had was one hemochromatosis gene. So I’m not sure how accurate it is [POST TITLE]: ADVICE ON INFORMING EXTENDED FAMILY ABOUT CARRIER STATUS FOR MUSCULAR DYSTROPHY [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [deleted] [deleted] I totally understand not wanting to know things about PD status. I do think they’d want to know about a Mendelian disease that their children could have, especially my cousins that are going to be starting families soon. I guess my main concern is... how do I explain it in the simplest terms possible? I don’t want to cause panic, especially because I am so bad at explaining genetics in layman’s terms. I wish my grandparents were a little more computer literate so I could direct them to 23andMe’s explanation. Still, thanks for allowing me to vent! I think your suggestion is a simple, easy-to-understand way of telling them. [POST TITLE]: CARRIER STATUS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] If you’re a carrier definitely have a partner checked before having a baby (or the baby checked in vitro). But errors can happen so if you’re worried you can get re tested on a specialised test. Really the best course of action is a genetic counsellor. They can advice on what approach to do next. I know every one of them I’ve spoken to has found it beneficial to do further testing for this type of thing than just a 23&me test (they’ve had false positives). yes. these dtc dna tests are known for having errors when it comes to health. for instance, i ran my ancestry dna test through promethease and sequencing.com’s rare disease test. promethease showed just your standard stuff, nothing frightening or rare. sequencing.com literally had me finding out how to write my last will and testament bc i came up with a gene mutation for ehlers danlos syndrome type 4, the kind that causes spontaneous organ and other tissue rupture at around 40. as i am 37, this freaked me out. turns out ancestry dna has a lot of errors when used for health. promethease’s subreddit saved my sanity. Yeah. This is why the industry got cranked down on by the FDA. People uneducated about genetics, risk and statistics can easily get freaked out and until you start researching it in more depth you don’t realise how much of a “guide” these things really are more than a fact. Genetics is complicated. There’s interactions between countless genes and interactions that only matter once you’re past a certain level of expression. What a 23&me/ancestry test can never do is tell you how expressed a gene is. If a gene isn’t “turned on” for lack of a better phrase it doesn’t matter if you have the SNP or not but does matter when it comes to having kids. For diagnostic health there’s nothing worse than doing a dtc test and running it through Promethease for a lot of people. Not only can there be false positives but there can be false negatives and whole genes missing because they’re not tested for on the chip. Then there’s ordering issues and all sorts of other risks with the approach. But as a starting guide point there’s some benefits as you can use it to get a doctor to refer for a further more accurate medical DNA test. If you’re that concerned about health though you can look into having your whole genome sequenced. Dante labs do it for €600 but their customer service is terrible and turnaround times slow. Next month a new global service is launching in September - https://sanogenetics.com - they’ll do a WGS in a reasonable time but not only that they’ll provide guided medical commentary to help you understand things better. Heck; it’s worth registering on the site today and uploading your 23&me/ancestry data they already have loads of trait reports for free! Things sequencing charge for. They also have in house geneticists and counsellors that you can contact for free for further guidance. Plus you can submit yourself into research studies using them as well which is really cool as well (especially if you actually do end up having some rare genetic disease). Ultimately the best route is a genetic counsellor. Heck you can have them via video call for ~$100 these days and especially if you’re thinking about how this can impact potential babies it’s the ONLY sane and valid route. Idk why I’m just now seeing this! But I ran my ancestry DNA through Promethease before using 23 & me. Promethease told me I was a carrier for LGMD so when 23 & me was on sale for prime day, I went ahead and bought it out of curiosity. Plus I wanted to see the difference in the ancestry breakdown too. you also have to be realistic. like, if you have four grandparents kicking it well into their eighties, then a chill pill is whats needed. Looked at the sanogenetics site. Looks really interesting. Love their [podcast series!](https://sanogenetics.com/blog) - check it out. Lots of good information there [POST TITLE]: CAN 23ANDME DETECT ADHD? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] What was that? Sorry I was distracted. No No. ADHD is probably not entirely genetic. (it could be caused by lead paint exposure as a child for instance) [deleted] Not yet. Maybe someday. [https://www.snpedia.com/index.php/Attention\_deficit\_hyperactivity\_disorder](https://www.snpedia.com/index.php/Attention_deficit_hyperactivity_disorder) 🤣, sorry couldn't resist. Thanks for the info :) [POST TITLE]: CAN 23ANDME DATA PROVIDE PHARMACOGENETICS DATA FOR ADHD MEDS? (LIKE HARMONYX/GENESIGHT) [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] This comment has been overwritten by an open source script to protect this user's privacy. It was created to help protect users from doxing, stalking, and harassment. If you would also like to protect yourself, add the Chrome extension [TamperMonkey](https://chrome.google.com/webstore/detail/tampermonkey/dhdgffkkebhmkfjojejmpbldmpobfkfo), or the Firefox extension [GreaseMonkey](https://addons.mozilla.org/en-us/firefox/addon/greasemonkey/) and add [this open source script](https://greasyfork.org/en/scripts/10380-reddit-overwrite). Then simply click on your username on Reddit, go to the comments tab, scroll down as far as possibe (hint:use [RES](http://www.redditenhancementsuite.com/)), and hit the new OVERWRITE button at the top. Also, please consider using [Voat.co](https://voat.co) as an alternative to Reddit as Voat does not censor political content. RemindMe! 1 day > 23AndMe doesn't sequence your entire genome, so it doesn't have all the possible SNPedia rsid values in your raw data. Is it possible that Harmonyx/Genesight are doing extra tests beyond what 23andMe is doing? I think I saw something somewhere about 23andme testing for snp's but not *copy number variants* Anyone know about that? 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They are probably NOT doing what 23andMe does. They probably do a PCR panel looking for the specific variations in specific genes and loci. And qPCR assays can test for CNVs. > I think I saw something somewhere about 23andme testing for snp's but not copy number variants Anyone know about that? Although Illumina offers CNV arrays, my understanding is that 23andMe uses a custom SNP/SNV array for testing. Bottom line is that I'm probably going to have to cough up the $80-something for a Harmonyx/Genesight test for things that 23andMe didn't do? [POST TITLE]: GOT THE NEW TYPE 2 DIABETES RESULTS AND THEY’RE NOT GOOD. BASICALLY I HAVE A 50/50 SHOT OF GETTING DIABETES? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Type 2 Diabetes is near entirely avoidable. It’s a modern disease with a modern cause, and if caught early enough is fairly simple to correct, purely as a dietary issue. How to not get type diabetes: 1. Don’t eat toxic amounts of carbohydrates, or roughly more than 100grams/day. That is a lot of many types of vegetables. It’s also best to avoid all grains “whole” or not, they have additional problems. 2. Don’t eat industrial seed oils or the many things which these are hidden in. These act as a multiplier for that damage carbs cause, and are also the real source of cardiovascular disease. 3. Make sure to get enough electrolytes. This means magnesium, potassium, and yes, especially sodium. Low salt diets increase heart rate, and cause the body to start pulling it from bones when it gets bad enough. It also makes certain things, like French fries and soda(soda is highly unbalanced, and screws up magnesium intake), especially desirable. You will subtly be driven to scavenge electrolytes from heavily processed and preserved junk foods, because of salt. If you feel bad after reducing carbohydrates, that means you are low on electrolytes and need more. Look up “ketoade” for an easy fix. Yes, I know, this does unfortunately eliminate 90% of what you can buy from the grocery store. You’re genetic results are just the likelihood of if you’ll be able to get away with eating literally poisonous amounts of certain chemicals (in this case, carbohydrates). Roughly 40% of Americans having diabetes or prediabetes, and this number is growing. Genetics is the least important factor to be concerned about here. I highly recommend “Deep Nutrition” if you want to reevaluate the most significant chemical exposure you have in this world: Your food. If your lifestyle (diet & exercise) is the same as the research participants, yes. That may have been a small number of participants (mathematically, 20 would allow a figure of 45%) and they might have all had a wretched lifestyle. You can beat those odds by having a better-than-average diet & exercise program. You might consider addressing your concerns with your primary healthcare provider and/or a Registered Dietitian. According to mine I have a 63% chance but I’m fairly healthy. I exercise 5 times a week on average and try my best to eat clean most of the week, no diabeetus here..... yet. I think mine is 66%? It runs on both sides of my family. What I took away from it was that I need to take care of myself and my health so I don’t develop it, and if I do I need to take it really seriously. My uncle developed it and actually reversed it. His mother (my grandmother) and younger brother (my other uncle) both died from it. It’s possible to somewhat control your genetics but it takes a *lot* of self-discipline. In addition to what others have said, this is the probability of you developing it *before you are 80 years old*. It’s not the end of the world if you get diabetes when you are 78. According to my report, I have a 49% chance of getting Type 2 Diabetes. =( Read about the keto diet. My wife was diagnosed as Type 2 so she immediately started keto and within 2 months, she'd lost more than 20 lbs and her blood sugar and A1C were both normalized. Type 2 diabetes can be prevented or delayed with healthy lifestyle changes, such as losing weight, eating healthy food, and being active. But Type 2 diabetes doesn't appear overnight. Long before it's diagnosed, the body begins to struggle to deal with sugars and other carbohydrates. Pre diabetes is that muscles and liver cells don't respond normally to insulin, muscle and liver cells become resistant. Insulin resistance results from a combination of increased belly fat, physical inactivity, a diet high in processed carbs, reduced sleep, increasing age, and genetic predisposition . Our DNA isn’t our destiny, it shows how to overcome it! Just remember, calories cause diabetes, not sugar. Just watch your A1C and you should be fine. Probability /= inevitability Use this info. to re-consider your diet and exercise regimen (if it's not very good at present). Wow that’s all really great information and I really appreciate the write up. I try to have a pretty decent diet, I avoid carbs where I can but I’m not perfect. I workout 4-5 days a week too. So I’m optimistic. I guess this is the push I need to eat even healthier. I second this post. I lost 50 pounds, normalized my blood pressure, eliminated most of my headaches, got rid of my heartburn, etc. (it goes on and on) by eating this way. And yes, it involves skipping 90% of the grocery store - almost everything in the middle aisles has canola/sunflower/grapeseed/vegetable/ect. oil in it. And also corn/wheat and high fructose corn syrup (sugar.) All good advice! I would also add getting fasting insulin levels tested when you get blood work (for some reason they rarely test this and it can be elevated while glucose is normal), as well as getting a glucometer and checking your glucose activity to see how you respond to carbs after meals. This article is super helpful: [https://chriskresser.com/how-to-prevent-diabetes-and-heart-disease-for-16/](https://chriskresser.com/how-to-prevent-diabetes-and-heart-disease-for-16/) They used several hundred thousand participants. Yeah, I’m planning to meet with a doctor in the next couple weeks. I do have a pretty decent diet and I exercise 4-5x a week. I realize it’s not a death sentence but just not something I was expecting. Sugar & carbs cause massive insulin responses. Protein causes moderate insulin response. Fat causes minimal insulin response. Your body tries to regulate the amount of sugar in your blood (about 1 spoonful\[4 grams\] to the gallon and 1/3 of blood) when you eat high levels of sugar, you need high levels of insulin to get rid of it. Just like loud noise damages your ability to hear, too much sugar/carbs damages your cells reception to insulin causing insulin resistance(like hearing loss). The insulin resistance causes your body to produce more insulin to get the same reaction. This is where type 2 diabetes eventually comes in. They give you insulin so you can maintain your blood glucose(sugar) levels. (Like yelling so old people can hear you) Eventually your pancreas stops producing insulin and it becomes irreversible type 1 diabetes. Type 1 diabetics can't absorb nutrition or even gain weight without insulin to cause the cells to receive what you're eating. They know this as a fact as there're actually eating disorders(Diabulimia) where Type 1 diabetics will under-dose themselves with insulin to lose weight. I understand. Sounds like you already have a head start on beating the odds. I’m retired from nursing now but I still like seeing people succeed in their own healthcare management. I wish you all the best. [POST TITLE]: DIABETES REPORT [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I believe I got 50 % more chance! Scary. Don't be too scared. I think the research is still primitive. For example, I am most definitely hypoglycemic (the opposite of diabetic) and have been for 40+ years. According to SNPedia / Promethease, I have a very high chance of having either / both DM1 or DM2. ​ I also have a high chance of being an alcoholic - which is impossible as I don't have the enzyme to break down alcohol and thus it can be deadly to me. What I do know is that I have a very bad reaction to even small amounts of alcohol. [POST TITLE]: RS36053993(A;G) SCARY COLON POLYPS AND CANCER MUTATION [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Well everyone should get a colonoscopy depending on your age but carrying genes doesn't mean it will forsure happen I'd recommend going to your doctor, tell him you found out about this mutation and ask to get a referral for a genetic counselor. They'd probably want to do a DNA test to screen the whole MUTYH gene to see if there's a second variant (23andme only checks for a few variants) and to confirm this one. Do you have a family history of colon cancer? If not, it’s probably nothing to worry about. Exactly. And I’m actually the opposite. I’m not a carrier of either genes and have had the polyps multiple times. [POST TITLE]: RAW DNA BROWSING: WHAT HAVE BEEN SOME OF YOUR COOLEST GENETIC/VARIANT FINDINGS IN YOUR OWN RAW DNA? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I have it too. I hope no one reading this post thinks they’re “immune to HIV” just by looking at one line in their DNA and putting themselves in danger though... it doesn’t confirm complete immunity to ALL HIV strains. There also seems to be conflicting information about claiming “immunity” at all. That’s pretty cool but I wouldn’t know where or how to read my genes. That's really cool! I did promethease with my Ancestry report and have the fox03 gene. My grandma is turning 97 in a few months. Some rare ones I have is alcohol hypersensitivity (less than 2% in European populations)...oddly I drank a lot in my teens and early 20's but it explains why sometimes I'd break out in hives from it. I also have moderately enhanced hippocampal volume and increased empathy. I also have the 90% viral load reduction gene And I have a slower aids progression gene SIRT1 longevity gene Various lowered cancer risk and Alzheimers risk Bad: homozygous for C677T of MTHFR = 10-20% A variant of the BRCA 2 Gene slightly higher odds of cancer You guys should all check the frequency of these "super" mutations - most of what you discuss is like super common, Oh... *puts pants back on* I doubt people would use this as an excuse to be risky as HIV type I is only among a small list of communicable diseases that can kill you lol. Correct, we are not immune to all types of HIV, only HIV type I because it uses CCR5 as a co-receptor to infiltrate the cells. If you do not have the co-receptor sitting on the outside of your cell, there is no doorway for HIV entry. Other types of HIV only make up a small percentage of total HIV cases. The only two people in the world known to be completely cured of HIV have been cured due to bone marrow transplants from donors with this homozygous mutation. However, this was found to be an extremely risky procedure and the risks outweigh the benefits in nearly all cases. HIV is hardly a death sentence in developed countries but unfortunately is for those living in poverty or those without access to proper healthcare. Are you homozygous or heterzygous? Great discussion! 23andMe has a the option to browse your own raw dna under the dropdown bar under your profile picture. I just googled some interesting snp's to look up and they are really easy to type into the search bar! Lol even if they claimed complete immunity I wouldn’t believe it... like they got enough volunteers to try to purposely try to infect to be sure of the immunity? ... ...puts pants back on [POST TITLE]: UPDATE: I'M NOT ADOPTED AND I DON'T HAVE BRCA!! [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] BRCA is just *one* gene that causes breast cancer. If you have a family history of breast cancer, especially in a male, you should still be very vigilant regarding it. 23andMe is NOT the same as getting BRCA testing through a medical lab. They only check 3 out of thousands of possible mutations in the BRCA genes (and these 3 are only relevant if you have Jewish ancestry). If your dad had male breast cancer, he is the best person to be tested to see if it was caused by a BRCA (or other) mutation. If so, then you can be tested for that specific mutation. If it is not possible for him to be tested, then you should discuss proper testing with a genetic counselor. Also if you have medical issues such as low weight, 23andMe is in no way adequate to say that your medical issues are "just an anomaly". Please consider using proper medical care to evaluate this situation, and not rely on 23andMe-- it is NOT a medical test despite their ambiguous marketing. Please say you didn't use 23andMe for determining BRCA. It needs to be done with a clinical lab. Did your father test positive for BRCA mutation? The correct way to genetic test is first test the person with the disease, and then test yourself. If your father has a BRCA mutation and you don't then you are at low risk for cancer. But if your father hasn't tested, and you test negative, then the test is meaningless for inheritance risk. A positive test is a positive test. This is the way genetic testing is meant to be used for all types of conditions. 23andme can tell you if you have 2 of the more common celiac genes. My best friend growing up who was chronically underweight was diagnosed with celiac, and with treatment was then able to reach a healthy weight. There are celiac genes that 23andme doesn't look for, and a doctor can help you learn more about that. Find out what variant. [Color.com](https://Color.com) has a program where they will test family members for 50 dollars. You just need your father's genetic test report to upload to them. And you need to be 18 years or older. [https://www.color.com/learn/family-genetic-testing-program](https://www.color.com/learn/family-genetic-testing-program) There's a test that my OB is having me do, apparently it checks for like 26 genes or something. My grandfather had breast cancer and my dad has had prostate cancer a few times (though that's likely agent orange exposure) so insurance covers the test. I mean, my BMI fluctuates around 15ish. I was kinda exaggerating about severely. Doctors don't really take it seriously. "Oh, just eat more." Yeah, I tried that. It didn't do shit. I thought it might be because one of my parents wasn't a true parent and maybe whoever was had a stupid high metabolism like me or whatever the hell is going on with me. That is apparently not the case. Edit: I'm bad at numbers. It fluctuates around 15. I have one of them according to 23andme. I didn't think it meant anything because it said it's only a 3% increased risk. Should I talk to my doctor? If you are underweight, it is worth exploring. Common side effects of celiac are underweight, anemia, other vitamin or mineral deficiencies despite healthy diet, a skin condition called dermatitis herpetiformis, and other autoimmune conditions. Things to know: the blood test for celiac has a very high false positive rate. If you aren't eating gluten, any test for celiac (blood, stool, endoscope) will show a negative result. Yo uhave to be eating gluten to be tested for celiac. [POST TITLE]: RESULTS INACCURATE REGARDING BETA THALASSEMIA [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [From the John Hopkins School of Medicine:](https://www.hopkinsmedicine.org/health/conditions-and-diseases/beta-thalassemia) >Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder: > >*Beta thalassemia major (Cooley’s anemia)***.** There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan. > >***Beta thalassemia minor or thalassemia trait.*** **Only one gene is damaged. This causes less severe anemia. People with this type have a 50% chance of passing the gene to their children. If the other parent is not affected, their children will also have this form of the disorder.** > >This type is further divided into: > >*Thalassemia minima:* There are few or no symptoms. > >*Thalassemia intermedia:* This causes moderate to severe anemia. Please make an appointment with an MD to discuss your concerns. You could also ask a genetic counselor to discuss how this condition is inherited with you, and she will help you investigate this. Beta thalassemia is an autosomal trait, so you can inherit it from either parent. Looks she got them both from her dad. >Has anyone had a false result like this? The result is not false, it's accurate >I have been told in order for her to have both sickle cell trait and the beta thalassemia trait, she would have to inherit one of them from her dad and one from me. That is false. In order for your daughter to be effected both you and your husband need to pass the gene to your daughter. Your daughter is an unaffected carrier of both diseases because she only has one copy of both. Beta thal has a range of different genes that can cause it. 23andMe does not test for all. Do you have beta thal? Whats your MCV on a standard blood panel? 23andme only test for the >Beta thalassemia major (Cooley’s anemia). There are two damaged genes. This is the most severe form of this disorder. People with this condition will need frequent blood transfusions. They may not live a normal lifespan. If a person has one variant then they are an unaffected carrier. She wouldn’t be unaffected, it would sickle beta thalassemia if she inherited both. I don’t have beta thal or SS trait. My daughter has SS trait. Her MCV is 90 (in a 85-92 range). No, that's not how recessive diseases work. She needs 2 copies of a gene in order to get a disease. Having one copy each of 2 diseases means she's unaffected carrier of both diseases. I don’t want to or mean to argue, but thats not what I’ve been told repeatedly by people who actually have it and by pub med, etc. Can you please tell me where I can find the info you are sharing with me? I would really appreciate it. Thanks! [POST TITLE]: DOES ANYONE GET ANY RESULTS WHEN THEY SEARCH "THALASSEMIA" IN 23ANDME RAW DATA? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Search HBA1 or HBA2 in raw dna browsing. If the rs you are searching doesn’t show up then it’s not tested If you are carrier of the thalassemia trait, you should not take iron supplements. Please double-check if you have the trait before starting the IV infusions. Iron overload is a serious issue with thalassemia, you don't want to contribute to it if you have the trait or a mild form. Where do you live? In parts of the UK they test the mother for this during pregnancy. I doubt 23&Me test for all genetic variants, and you should probably get a proper test done for it. Searched hba1 and don't see any obvious deletions, though i don't know if i have any recessive results (but admittedly have a hard time knowing which variant is dominant or recessive in the 23andme interface), however when i searched hba2 I had two of the ones listed show my genome results as "not determined" and one show as "- / -" (where the variant options were "— or TCTGCCCAGGTTAAGGGCCACGGC"). Would the "not determined" and "- / -" both indicate deletions, or only the second one? Would only one deletion be sufficient to cause issues? I’m trying to find some easy to understand information on thalassemia, do you happen to have any sources? I’m a bit overwhelmed with all the info I’m finding at the moment. I’m in Quebec, Canada - not sure if they test for it here. If I’m anemic, wouldn’t that be the opposite of iron overload? Also, for additional context it’s a twin pregnancy so is a lot more resource intensive for my body, and for now we only have 3 IV iron infusions planned. Basically when I had my first trimester blood tests around 13 weeks, my results were technically normal for anemia, but directly on the edge of the cut off for anemia so the doctor prescribed 1X per day iron + vitamin C. We did a follow up test just before I reached 19 weeks and my results had dropped into the “moderate anemia” category so we upped my iron+VitC to 2x per day, then 4 weeks later (dec 23) retested and my result was identical to before upping to 2X per day. Not determined means that their algorithm couldn't make a confident decision on your genotype for that marker. If you have a homozygous deletion of the whole gene, this could be theoretically possible, however, seeing that another variant has been called correctly, it wouldn't be a whole gene deletion. For the -/- genotype, what is the rs number? Most of the times, the - is actually the normal (wild type) genotype and the other option given is an insertion of one or more letters. Thalassemia often shows up as anemia, but is not caused by low iron. eg with beta-thalassemia trait, the red blood cell volume is quite a bit smaller than in people with normal red blood cells, and as a result comprise a lower volume fraction of the blood (one of the indicators used for anemia). Treating with extra iron will not improve the condition and in long term can cause iron overload. Please contact your GP and ask to be tested for thalassemia. It's a simple test they can run on your blood, and it's one of the most common blood disorders. If you are a carrier, your partner also will need to be tested, as it could result in life-threatening conditions for offspring. The ones that were “not determined” were: - rs63750776 - i5004446 The one that was “-/-“ is: - rs63750122 Oh I see, yes I’ll do that and ask for the test. Is there an easy way to see if I’m an actual carrier on 23andme? There are a lot of markers/SNPs and I’m not sure which are actually clinically relevant. Did you get genotyped with the v3 or v4 chip on 23andme? Because I can't find these in my raw data, genotyped with the v5 chip. The rs63750122 is interesting. It's an in-frame deletion which has only been described in one scientific article where it says the resulting protein is only mildly unstable. However, the results from the RAW data should NEVER be used as a diagnostic. Go to your doctor, explain your story and also that of your mother. Then ask if it would be possible to perform a genetic screening of an Anemia gene panel in a diagnostic lab. This will screen all of the genes linked to anemia (\~88 according to Blueprint Genetics). No you can't reliably see if you're a carrier of thalassemia. 23andme doesn't screen all the known/possible variants in the HBA/HBB genes. [POST TITLE]: HYPOGONADISM, HYPOTHYROIDISM, AND ANEMIA [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [POST TITLE]: UPDATE: I'M NOT ADOPTED AND I DON'T HAVE BRCA!! [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] BRCA is just *one* gene that causes breast cancer. If you have a family history of breast cancer, especially in a male, you should still be very vigilant regarding it. 23andMe is NOT the same as getting BRCA testing through a medical lab. They only check 3 out of thousands of possible mutations in the BRCA genes (and these 3 are only relevant if you have Jewish ancestry). If your dad had male breast cancer, he is the best person to be tested to see if it was caused by a BRCA (or other) mutation. If so, then you can be tested for that specific mutation. If it is not possible for him to be tested, then you should discuss proper testing with a genetic counselor. Also if you have medical issues such as low weight, 23andMe is in no way adequate to say that your medical issues are "just an anomaly". Please consider using proper medical care to evaluate this situation, and not rely on 23andMe-- it is NOT a medical test despite their ambiguous marketing. Please say you didn't use 23andMe for determining BRCA. It needs to be done with a clinical lab. Did your father test positive for BRCA mutation? The correct way to genetic test is first test the person with the disease, and then test yourself. If your father has a BRCA mutation and you don't then you are at low risk for cancer. But if your father hasn't tested, and you test negative, then the test is meaningless for inheritance risk. A positive test is a positive test. This is the way genetic testing is meant to be used for all types of conditions. 23andme can tell you if you have 2 of the more common celiac genes. My best friend growing up who was chronically underweight was diagnosed with celiac, and with treatment was then able to reach a healthy weight. There are celiac genes that 23andme doesn't look for, and a doctor can help you learn more about that. Find out what variant. [Color.com](https://Color.com) has a program where they will test family members for 50 dollars. You just need your father's genetic test report to upload to them. And you need to be 18 years or older. [https://www.color.com/learn/family-genetic-testing-program](https://www.color.com/learn/family-genetic-testing-program) There's a test that my OB is having me do, apparently it checks for like 26 genes or something. My grandfather had breast cancer and my dad has had prostate cancer a few times (though that's likely agent orange exposure) so insurance covers the test. I mean, my BMI fluctuates around 15ish. I was kinda exaggerating about severely. Doctors don't really take it seriously. "Oh, just eat more." Yeah, I tried that. It didn't do shit. I thought it might be because one of my parents wasn't a true parent and maybe whoever was had a stupid high metabolism like me or whatever the hell is going on with me. That is apparently not the case. Edit: I'm bad at numbers. It fluctuates around 15. I have one of them according to 23andme. I didn't think it meant anything because it said it's only a 3% increased risk. Should I talk to my doctor? If you are underweight, it is worth exploring. Common side effects of celiac are underweight, anemia, other vitamin or mineral deficiencies despite healthy diet, a skin condition called dermatitis herpetiformis, and other autoimmune conditions. Things to know: the blood test for celiac has a very high false positive rate. If you aren't eating gluten, any test for celiac (blood, stool, endoscope) will show a negative result. Yo uhave to be eating gluten to be tested for celiac. [POST TITLE]: GOOD VS BAD HEALTH DATA [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] It's probably not as bad as it looks, as far as I am aware it's x the normal risk, so for instance if CAD is normally 5%, then it's 2X5%, look up some information on epigenetics, and try to have a healthy lifestyle. You’re not the only one. I kinda ignored most of it, as it says that only stuff that has a magnitude of 5 and bigger is inportant enough to bring to the dr. On the other hand, you made me think. I’ve been diagnosed with Fibromyalgia. However, my 65 year old Mum has spondilosis... might be that my fibro isn’t actually fibro. 🤔 Where did you read only 5+ was worth talking to the doctor about? I thought 5 was the highest? I don’t want to borrow trouble but I’ve had a million wrong diagnosis for mystery illnesses and this might help I forgot where tbh. 10 is the highest though. You might find something googling. Yeah, have the same problem. [POST TITLE]: HAS ANYONE REGRETTED GETTING THE HEALTH TEST? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] The worst case scenario is that all results come back with "No Varients Detected" and thus you spent money that you didn't need to. If there are any hits, It's better to know. I have the dna markers for hemochromatosis I’ve been having health issues and my ancestry predicted I had a vitamin d deficiency. I just had a blood test done and it shows I have 8 out of 30 vitamin d levels which explains bone loss in my teeth bleeding gums and bone and muscle aches and stomach problems I’ve been having. I’m being test for hemochromatosis and since taking the vitamin d prescription the doctor gave me my gums are now pink and not red no more bleeding my bones ache less and my stomach hurts less and my rashes on my arm have gone away. So I’m very glad I took the health test. For both sites it predicted somethings that needed attention which were over looked. It's interesting to know that I have a variant for Celiac disease and Alzheimer's disease, but ultimately don't think it will affect much of my life knowing these things (maternal grandpa had dementia, so already knew I had family history in the genes). If you're the type of person who would get fixated on something so little, I'd recommend putting yr money towards a psychiatrist or therapist before 23andMe. Any mutations or conditions you have are there whether you know or not. Knowledge is power. I found out about having a BRCA2 mutation, had some surgeries, and am VERY glad the shock I had to get used to was "you have this mutation" and not "you have cancer." I felt like it was a waste of money in all honesty. I literally came negative for all things accept for the possibility of Type 2 diabetes. I got my results in this morning. I'm kind of glad that I'm negative. But I feel their health reports suck in all honesty. Wellness report sucked to. Imo. But if you feel like you want it. Do it, while it's cheaper. I wouldn’t do it. The cost isn’t worth it. But if you really want it- FIRST ask yourself what you will do with the results. It’s what your doctor would ask you on any genetic testing. Are you also in a good place mentally if you get a result that shows your risk for certain conditions/diseases? It’s in the end all statistics. You can have the genetic risk and never develop the disease or condition. You can have no markers and still get the condition/disease. You still have to be monitored for it all and that’s where your primary care provider steps in. Big things like BRACA genes (and the like) in the family should have a real evaluation by a genetic counselor and further testing. Things like Colon cancer you are screened earlier and you and your doctor should be on any suspicious symptoms. Almost everyone is Vitamin D deficient. Sunscreen. Not going outside (without sunscreen) or just going outside contributes to it. So if you do it- bring your results to your doctor. We won’t laugh or make you feel bad. We like patients who take a interest in their health. I didn't learn anything that I, or my mom, didn't already know about In a previous 23andme setup, it gave me the option to find out if I had Alzheimers genes. Well my dad already has dementia, in his 80s, so no real surprises there. It said I have the less-concerning variant. Either way, I already knew there was dementia in the family, so I guess I am going to have to make sure I can retire comfortably and plan ahead for my kid so that he's established. Thank you! How long did it take for your gums to stop bleeding if you don't mind me asking, I'm having the same issue Thanks for the input! I’m glad the kit was able to help you discover your vitamin d deficiency. That definitely is a good reason to test. Thank you. I know of some health issues that run in my family as well. Perhaps that’s enough to know. What were the surgeries for, if you don’t mind me asking? Yeah, doing it while cheaper is best. Thanks for your input! Based on the advice here, I’m thinking that the test might not be worth my worry and the money. Thank you so much for the input! Should I do the health test, I will definitely make sure to talk to my doctor if anything comes up. That sounds like a good plan. Dementia runs in my family too. Good to be prepared! This was my problem. Some may say it is still worth the peace of mind. Like 2 days my rashes went away and gums went from red to pink and bone aches gone in 4 days actually improvement happened really fast Yes for sure I decide to do 23 and me specifically for the health test after and it just so happens ancestry offered the traits thing for cheap and both combined def give me much insight Prophylactic double mastectomy and reconstruction. Great thanks hopefully see improvement soon Thank you for sharing your experience! You should it affects the whole body sometimes it’s the small things we overlook [POST TITLE]: I THINK MY RESULTS JUST SOLVED A LONG STANDING MEDICAL MYSTERY [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I’m glad you have some answers. I carry one APOE4 allele. Knowing this, I read the book “The End of Alzheimer’s”. It has a very in-depth explanation of current theories on the development of Alzheimer’s and a long list of things that researchers think can best protect against it. I recommend checking it out. I did end up changing a few lifestyle factors just in case there is something we can do. Just to give you an overview: they recommend incorporating more 12+ hour fasting into your routine (overnight works), 150+ min/week week of aerobic exercise, low carb diet, “brain training”, stress reduction, 7-8 hrs of sleep/night, and then a long list of supplements to consider. The main ones I remember are MCT oil, curcumin, resveratrol, and Omega 3/DHA. It is a very detailed book. I think your research may be overestimating the chances. It is true that APOE4/4 carriers have a 10-12x higher risk than the general population but that 91% impacted by age 68 figure seems a little off. The research I saw indicated that APOE4/4 carriers have about a 50-60% chance to get diagnosed by **the age of 80**, with a 2% starting at 68. These figures could even be overestimating because some recently released meta-studies have found a lower prevalence when surveying members of the general population and not just ones that have been in clinical studies. What I'm trying to emphasize here is that being a APOE4/4 carrier isn't a "sure thing" for Alzheimers. You can minimize (or push back its onset) your chances by exercising, eating foods with low-trans fats and replacing them with high Omega-3 fats. Sleep is also very important. And if you are still in your 20's there's a very real chance that science will help to find effective treatment by the time you make it to your 60's. Billions of dollars of investment is being poured into research, and its fast becoming public enemy #1 which means there will be a significant drive to cure the disease. This isn't a promise however, there is still quite a bit to learn about the disease and how it works. But if we look back 40 years to the year 1980 and see how far we've come against many common diseases (HIV, Cancer, HPV, Heart Disease,MS, Hep C) I think there is real promise. I too am also a 4/4 carrier. There are actually quite a few around. There are even some sub-reddits that fellow 4/4 carriers have started to help with education and support. [deleted] [https://www.apoe4.info/wp/welcome/](https://www.apoe4.info/wp/welcome/) [POST TITLE]: NEW REPORT FOR FAMILIAL HYPERCHOLESTEROLEMIA - ANYONE ELSE HAVE THESE VARIANTS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I didn't get that report, they must not have looked for that SNP in older test versions. It was part of my report and showed “variant not detected.” I would not have been surprised had it been detected; several immediate family members have died due to MI and I have had hypercholesterolemia in the past. According to the website there are around 1000 variants and they only tested for 24. Yes I had noticed that. [POST TITLE]: IS THE TEST FOR ME? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] The easiest way to find out if you have the severe genetic type of high cholesterol is to have your doctor check your cholesterol and lipid levels! And you insurance will pay for it! And if it is high, your doctor can treat it to reduce your risk of heart attack! Your doctor can't treat with the DNA result. (Doctor and DNA tester here). anything truly medical that you need reliably tested, go to your doctor for it. Oh really thank you! I am in the UK anyway so its all free. Thanks so much for this I literally didn't have a clue I have done some googling but this is the most clear info I have gotten. Yeah I’m going in tomorrow for it. Thanks guys really appreciate it. [POST TITLE]: FAMILIAL MEDITERRANEAN FEVER - PROMETHEASE [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] It looks like the same mutation, but I'm not sure. Regarding x-posted thread in /r/promethease, according to more recent research - it is possible to be symptomatic with only one copy of an MEFV mutation, although traditionally it's accepted that both copies (homozyegous) are required. There's a lot of different mutations on the MEFV gene that can result in FMF (or at least FMF like symptoms). The risk with FMF is [AA amyloidosis](https://en.wikipedia.org/wiki/AA_amyloidosis). AA amyloidosis is more common in some mutations than others. I'm not sure about the particular [snp (rs61732874)](https://www.snpedia.com/index.php/Rs61732874) you mentioned. AA amyloidosis can occur independent of inflammation and fever. The only treatment is long-term colchicine. If you believe you may be symptomatic, you can request your doctor to order some blood tests for inflammatory markers like CRP, ESR, WBC, etc. These may be chronically elevated, but even more so during the episodes you described. You could also request a genetic test for a full sequence of MEFV, which will provide you and your doctor with much more information than 23andMe data. Good luck, and feel free to pm me. Ther is a group on fb that has almost 2500 members so you can get more info there! On fmf. Thank you! Just pm'd you. [POST TITLE]: QUESTION ABOUT A 5 MAGNITUDE ON PROMETHEASE [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] the best thing is ask your doctor. and tell your preoccupation. don't scare too much because. they tell me I going to have cancer for this,for that,melanoma etc etc and well I scare first later just breath and I going to talk with my doctor about this . Before you freak out, figure out what the "normal" risk is. If the normal risk is only 1%, then this result is not that big of a deal. If you have any symptoms, definitely see a doctor. But if you don't have symptoms, I would jsut bring it up at your next physical as something that should be known. You should definitely get checked by a doctor. I can't find how common this disease is normally, so it's hard to tell what 3x risk means, but magnitude 5 points to it possibly being significant. Early diagnosis is key, so you'll want to discuss it with your doctor. If you're interested in reading about what the symptoms and prognosis will be like if you do get it, check out the familial/hereditary sections of the below link. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1163465/ Edit: also it appears the greatest risk factors for developing the disease are being black, male, and over 65 years old. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501197/ Thank you! How do you determine this? Thanks! I have a physical in September so I'll definitely be mentioning it then I am black but not a male and only 26, but I will definitely mention it to my doctor at my physical next month. What exactly do the magnitudes signify? I obviously know the higher the more significant, but I have been trying to figure that out and I think that'll help me communicate things to my doctor. The magnitude of 5 basically means "This is really interesting, you should look into this." It can mean it's rare, or it's serious, or it's really well studied. It's just a way of finding the important stuff and ignoring the genes for blonde hair or whatever. [POST TITLE]: CELIAC DISEASE VARIANT. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] That's awful that they brushed you off, given his family history alone. I'd recommend switching to a different pediatrician. Yes, absolutely. Tell them (especially if he's still on gluten) that you want the blood test. I also have one of the variants, and when I told my doctor she went ahead and ordered the blood test to rule it out since I have stomach/GI issues. As of right now, I don't have celiac, but doc told me I'll probably want to repeat the test every few years since it can develop at any point (ie, just because I don't have right now doesn't mean I never will). Is he symptomatic? Have you tried gluten elimination? That’s the true test either way. Worth mentioning it. I'm waiting for my results to see if I carry the gene too. But I agree if you know he feels better eating gluten free then that's the way forward. But if you want the coeliac diagnosis then don't cut it out until he's had a blood test 😊 He has autism and already only eats like 4 foods. He’s incredibly sensitive to texture and taste. However his psychologist asked if we’ve ever thought about trying gluten free to help with his issues and anxiety. [POST TITLE]: 23ANDME DOESN'T DETECT CELIAC, BUT I'M DIAGNOSED [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] If you had read the scientific details page it would have told you that "Among people who develop celiac disease, about 90% have one or more copies of the HLA-DQ2.5 haplotype and about 5% have one or more copies of the HLA-DQ8 haplotype. The remainder may have other haplotypes not covered by this test." The scientific details pages weren't created to waste money, it's very important that people read them A minority of people with Celiac don't have the main genes for it. I read somewhere that there are more people starting to develop Celiac in absence of the two main genes- I believe Japan was mentioned as a place this was happening. This article lists a few other genes that may contribute to Celiac that you can search for in your raw data browser: [https://www.geneticlifehacks.com/more-on-the-genetics-of-celiac-disease/](https://www.geneticlifehacks.com/more-on-the-genetics-of-celiac-disease/) 23andme isn’t “medical grade” testing...if you’re curious, you could ask your doc about running the genetic test through the office. I know they used to say, back when my daughter and I were diagnosed, that there is a very small percentage of people with celiac but without one of the identified genes. I’m not sure if that’s still believed to be true though, it was nearly a decade ago. Because 23andMe's health section is not really in-depth. It has many false negatives The gold standard test for coeliac disease isn't a genetic test, it's a duodenal biopsy while still consuming gluten. What's the point of asking his doctor for a genetic test when he knows he has it? These things aren't free. If you had read the scientific details page it would have told you that "Greater than 99% of results are correct, while extremely rare it is possible for there to be an incorrect result". While it is possible for it to be false, it's far more likely that you just didn't read the fine print on the scientific details page. Insurance covered genetic testing for my daughter and I at 100%, and covered testing for my other three children, but it’s true that not everyone has that option. However, there are some other conditions that can mimic the histological findings that are typical of celiac disease. Misdiagnosis is absolutely possible. If he doesn’t actually have celiac disease, then he may not need to follow a gf diet that will surely cost more over a lifetime than a genetic test. And the social implications of maintaining a gf lifestyle, though while far better now than they were when I was diagnosed, aren’t something to ignore either. In any case, a small number of biopsy-confirmed celiacs don’t carry either of the alleles known to be associated with celiac. Less than 4%, If I’m remembering correctly. So we’ll compare the odds that our OP was either misdiagnosed with celiac and actually has a different condition, is one of the few with it but without the gene, or that the DIY DNA kit missed something and made an error. My money is on 23andme error, and if it’s wrong, 23andme, the FDA, and the rest of us using it for health data would benefit from knowing that - and OP would benefit from knowing this as well. It is worth a mention at his next GI checkup. [POST TITLE]: UPDATE: I'M NOT ADOPTED AND I DON'T HAVE BRCA!! [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] BRCA is just *one* gene that causes breast cancer. If you have a family history of breast cancer, especially in a male, you should still be very vigilant regarding it. 23andMe is NOT the same as getting BRCA testing through a medical lab. They only check 3 out of thousands of possible mutations in the BRCA genes (and these 3 are only relevant if you have Jewish ancestry). If your dad had male breast cancer, he is the best person to be tested to see if it was caused by a BRCA (or other) mutation. If so, then you can be tested for that specific mutation. If it is not possible for him to be tested, then you should discuss proper testing with a genetic counselor. Also if you have medical issues such as low weight, 23andMe is in no way adequate to say that your medical issues are "just an anomaly". Please consider using proper medical care to evaluate this situation, and not rely on 23andMe-- it is NOT a medical test despite their ambiguous marketing. Please say you didn't use 23andMe for determining BRCA. It needs to be done with a clinical lab. Did your father test positive for BRCA mutation? The correct way to genetic test is first test the person with the disease, and then test yourself. If your father has a BRCA mutation and you don't then you are at low risk for cancer. But if your father hasn't tested, and you test negative, then the test is meaningless for inheritance risk. A positive test is a positive test. This is the way genetic testing is meant to be used for all types of conditions. 23andme can tell you if you have 2 of the more common celiac genes. My best friend growing up who was chronically underweight was diagnosed with celiac, and with treatment was then able to reach a healthy weight. There are celiac genes that 23andme doesn't look for, and a doctor can help you learn more about that. Find out what variant. [Color.com](https://Color.com) has a program where they will test family members for 50 dollars. You just need your father's genetic test report to upload to them. And you need to be 18 years or older. [https://www.color.com/learn/family-genetic-testing-program](https://www.color.com/learn/family-genetic-testing-program) There's a test that my OB is having me do, apparently it checks for like 26 genes or something. My grandfather had breast cancer and my dad has had prostate cancer a few times (though that's likely agent orange exposure) so insurance covers the test. I mean, my BMI fluctuates around 15ish. I was kinda exaggerating about severely. Doctors don't really take it seriously. "Oh, just eat more." Yeah, I tried that. It didn't do shit. I thought it might be because one of my parents wasn't a true parent and maybe whoever was had a stupid high metabolism like me or whatever the hell is going on with me. That is apparently not the case. Edit: I'm bad at numbers. It fluctuates around 15. I have one of them according to 23andme. I didn't think it meant anything because it said it's only a 3% increased risk. Should I talk to my doctor? If you are underweight, it is worth exploring. Common side effects of celiac are underweight, anemia, other vitamin or mineral deficiencies despite healthy diet, a skin condition called dermatitis herpetiformis, and other autoimmune conditions. Things to know: the blood test for celiac has a very high false positive rate. If you aren't eating gluten, any test for celiac (blood, stool, endoscope) will show a negative result. Yo uhave to be eating gluten to be tested for celiac. [POST TITLE]: CELIAC DISEASE VARIANT. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] That's awful that they brushed you off, given his family history alone. I'd recommend switching to a different pediatrician. Yes, absolutely. Tell them (especially if he's still on gluten) that you want the blood test. I also have one of the variants, and when I told my doctor she went ahead and ordered the blood test to rule it out since I have stomach/GI issues. As of right now, I don't have celiac, but doc told me I'll probably want to repeat the test every few years since it can develop at any point (ie, just because I don't have right now doesn't mean I never will). Is he symptomatic? Have you tried gluten elimination? That’s the true test either way. Worth mentioning it. I'm waiting for my results to see if I carry the gene too. But I agree if you know he feels better eating gluten free then that's the way forward. But if you want the coeliac diagnosis then don't cut it out until he's had a blood test 😊 He has autism and already only eats like 4 foods. He’s incredibly sensitive to texture and taste. However his psychologist asked if we’ve ever thought about trying gluten free to help with his issues and anxiety. [POST TITLE]: IS 23ANDME USEFUL FOR KNOWING IF I AM LACTOSE INTOLERANT OR GLUTEN SENSITIVE? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I'm not lactose intolerant (at least not yet), but my report says that I am. (For the record, I'm European.) But a good way to tell if you're actually lactose intolerant is to just drink a bunch of milk some weekend when you don't have plans and see what happens. The v4 chip includes a SNP that's predictive of lactose tolerance status. I'm still waiting on my results, so I can't answer you, but I can chime in on it. I'm dealing with GERD/Acid Reflux right now, and because of this, I really suggest you try the elimination diet and see if anything comes up. Could be soy, dairy, eggs, wheat, sea salt, cannabis, fruits, fish, etc etc. All of these things can cause all sorts of crazy reactions internally if you developed allergies/sensitivities to them. There isn't a ton of medical science that can tell you either way. Any doctor you go to will test for the normal stuff like celiacs, prick tests, but after that, it's all elimination diet. They provide percentages based on population studies. Most populations studied (afaik) are European. If you're looking for a clinical diagnosis of LI, see if you can get a hydrogen breath as it would be more definitive. As explained below, even if your genotype (at marker rs4988235) predicts lactose intolerance, you could still be tolerant (to a degree). Marker: rs4988235 > This gene encodes the lactase protein, which is an enzyme required to digest a sugar called lactose found in milk. The SNP that was found to determine lactase persistence actually lies in a gene near LCT called MCM6. Although MCM6 does not have anything to do with lactose digestion, the MCM6 gene overlaps with a region that is thought to act as an on/off switch for the LCT gene. > The A version is the result of a relatively recent change, as it is rare in Asian and African populations. This version allows production of lactase into adulthood, suggesting that it changes how the on/off switch for the LCT gene is activated. Studies have confirmed that the A version results in more overall lactase production in cells in the lab. > A person may have the GG genotype at the SNP reported here, but still be lactose tolerant. Several other genetic markers have been identified in African populations that allow lactase to be produced into adulthood. There may also be other, unknown genetic effects on lactose intolerance. The website tests the "C/T variant-13910 near the *LCT* gene" Yep, it's worth it. After years of being mocked by my family and others for being gluten-free I found *three* markers for gluten sensitivity in my Promethease report. As for lactose, my genotype is for tolerance which isn't shocking as a white person, however I still feel like it gives me problems and try to avoid it. When you say South Asian you mean from the Indian subcontinent right? Most of the traditional type of lactose intolerance is in the Asian-Asian gene pool I think, however, quit lactose if you want to. You don't need the verification if you truly feel it's bad for you- it helps, but do what you want. I'm from Wisconsin and drank milk, are cheese my whole life. Sure I had tummy pains but never associated it with dairy. When I received my 23andme results saying I'm lactose intolerant, I said "bull shit!", drank two glasses of milk... I was dying. Since cutting out (reducing) dairy, I feel soooo much better! Similar thing. I'm of Euro descent (specifically northern & western). Dairy is a huge part of my diet and I handle it with grace. I consume copious amounts of milk, soft & hard cheeses, yogurts, etc on a daily basis. My 23andMe report says that I am likely intolerant, and IIRC Promethease said something similar. However; it's a percentage. I don't remember the number, but somewhere around 77% of Europeans with the genoset experience lactose intolerance. But to me, that means that there is an obvious segment that does not experience it. If I had my testing done a long time ago will the results be effected by an updated chip? You will be able to review some gluten sensitivity genotypes- I don't know if 23andme does it, but Promethease does. If you are unfamiliar, that's a 3rd party website which will analyse your raw data file (from 23andme) for five bucks & is worth it. Yeah, I always think that modern medical science is as mature as a kid when it comes to diet. With me it happened like I got Vitiligo. Look into ancient eastern things if they say something, follow everything that you have gathered, get really better. Slip (since you don't precisely know what hurts you, you slip without realizing), screw your body again, do an analysis of what went wrong in last 9 months that you screwed up, see that I ate yogurt, ice cream, little milk, rice that I was avoiding before that. So, now I stop eating that and wait for months to see some improvement. Worst part of having auto-immune disease with no immediate symptoms is like you never know what's going on and a cycle of elimination diet can last for several months. I feel that my doc does not want me to get a hydrogen breath test as I am not showing any GI symptoms or pain and may be it will a pre-authorization from insurance. Since I say that my skin issues seems better, she is like if eliminating anything makes you feel better then it is fine not to eat it. I don't want to live while avoiding milk and not even having a name on why (or what) is it. As I am typing this, first time I am feeling that not having a labeled paper might be considered as a blessing in disguise since I can cheat a little, can go on a icecream date someday with my sweetheart and have a few spoons of it. Yup, I meant Indian Sub-continent. Yesterday I saw some research that 27 to 65 % population can be lactose intolerant :-O from Indian Subcontinent. Having an auto-immune disease sucks, your body doesn't like something but it won't tell you so directly, it will just kill itself slowly. Yep, I've tried drinking lots of milk at once and it doesn't bother me at all. I figure that I either (1) have some other gene that's protecting me, (2) haven't grown into it yet because I'm only 18, or (3) have a really mild case that I wouldn't ever notice unless I really went overboard. Greetings, fellow Wisconsinite. :) If you were on v1 or v2, maybe. If you were on v3, it's unlikely that you'd see much of a change though. I've had great results from just pumping myself full of B12- you can't really OD- and avoiding grains almost entirely, especially gluten. Oh and added sugar. It sounds difficult but it is fine. I didn't become lactose intolerant until I turned 28ish. Just keep it in mind if your belly starts hurting randomly in the future and you aren't sure why. Hello friend, cedarburg here! I started taking methycobalamin recently. I do eat wheat though as I have always been eating it even when re-pigmenting I was eating food made with whole wheat everyday. I was avoiding dairy and rice when I was re-pigmenting so here it goes. All the leaky gut info and its closeness to auto-immune conditions make me think about gluten. Also, my digestion was overall better though and that makes me feel if somehow you can keep up with your digestion you should be good. Funny... I moved out of Cedarburg last year. What on earth is re-pigmenting? Also for guts- avoiding grapes is great. I used to drink wine and I think that was extremely bad for me, now I don't even eat the grapes in a trail mix. Actually now I don't usually eat fruit at all, unless if you count lemon juice? Vegetables are ok for vitamin C anyway. [POST TITLE]: 23ANDME DOESN'T DETECT CELIAC, BUT I'M DIAGNOSED [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] If you had read the scientific details page it would have told you that "Among people who develop celiac disease, about 90% have one or more copies of the HLA-DQ2.5 haplotype and about 5% have one or more copies of the HLA-DQ8 haplotype. The remainder may have other haplotypes not covered by this test." The scientific details pages weren't created to waste money, it's very important that people read them A minority of people with Celiac don't have the main genes for it. I read somewhere that there are more people starting to develop Celiac in absence of the two main genes- I believe Japan was mentioned as a place this was happening. This article lists a few other genes that may contribute to Celiac that you can search for in your raw data browser: [https://www.geneticlifehacks.com/more-on-the-genetics-of-celiac-disease/](https://www.geneticlifehacks.com/more-on-the-genetics-of-celiac-disease/) 23andme isn’t “medical grade” testing...if you’re curious, you could ask your doc about running the genetic test through the office. I know they used to say, back when my daughter and I were diagnosed, that there is a very small percentage of people with celiac but without one of the identified genes. I’m not sure if that’s still believed to be true though, it was nearly a decade ago. Because 23andMe's health section is not really in-depth. It has many false negatives The gold standard test for coeliac disease isn't a genetic test, it's a duodenal biopsy while still consuming gluten. What's the point of asking his doctor for a genetic test when he knows he has it? These things aren't free. If you had read the scientific details page it would have told you that "Greater than 99% of results are correct, while extremely rare it is possible for there to be an incorrect result". While it is possible for it to be false, it's far more likely that you just didn't read the fine print on the scientific details page. Insurance covered genetic testing for my daughter and I at 100%, and covered testing for my other three children, but it’s true that not everyone has that option. However, there are some other conditions that can mimic the histological findings that are typical of celiac disease. Misdiagnosis is absolutely possible. If he doesn’t actually have celiac disease, then he may not need to follow a gf diet that will surely cost more over a lifetime than a genetic test. And the social implications of maintaining a gf lifestyle, though while far better now than they were when I was diagnosed, aren’t something to ignore either. In any case, a small number of biopsy-confirmed celiacs don’t carry either of the alleles known to be associated with celiac. Less than 4%, If I’m remembering correctly. So we’ll compare the odds that our OP was either misdiagnosed with celiac and actually has a different condition, is one of the few with it but without the gene, or that the DIY DNA kit missed something and made an error. My money is on 23andme error, and if it’s wrong, 23andme, the FDA, and the rest of us using it for health data would benefit from knowing that - and OP would benefit from knowing this as well. It is worth a mention at his next GI checkup. [POST TITLE]: DISCUSSION OF A CLASSIC AMERICAN MUTT [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] The maternal X sometimes (rarely) does not recombine, and recombination can be pretty random and usually isn't 50/50. It's not common to get most of an X from one grandparent, but it's possible. [https://dna-explained.com/2014/01/23/that-unruly-x-chromosome-that-is/](https://dna-explained.com/2014/01/23/that-unruly-x-chromosome-that-is/) ETA: Out of curiosity, I went and looked at mine. I share maybe 18-20% on the end with my maternal grandmother's known relatives (and more often none at all), and large swaths with my grandfather's relatives everywhere except that right end. It doesn't really matter on the ethnicity front because their backgrounds were nearly identical, but it's kind of cool to know. 90% confidence can be problematic for European DNA. My 61% German and 16% British both get reduced to less than 1% at 90 confidence. 23andme just can't be absolutely sure about those exact numbers when you crank that up, but it's fairly certain that they're from that general region. You can count on Finnish, though, it's pretty distinct. Your Polish part might be Prussian, since lots of Prussians get Polish and German. May I ask, how do you know your maternal X is purely from her father? You will match one whole X with your mom, but it's a recombination of both of hers. At [this link](https://blog.kittycooper.com/2014/03/how-can-the-x-chromosome-help-with-maternal-versus-paternal/) on the X inheritance, scroll down to the example of mother-daughter to see an example. I'm a male and my entire X chromosome is from my maternal grandmother. Her results came back a few days ago and confirmed it. I also share a small completely identical segment with her. So basically my one x never recombined and I got the same one as my grandmother. It's possible but I don't know how commom What made it hard for me tho is that both maternal grandparents are Italian. I'm a guy, I have coeliac, and my grandfather, his father, and his father all died of colon cancer. Coeliac tests often come back negative. The only way to be sure is to talk to your doctor, eat lots of gluten foods in a period they tell you to, and then have them perform an endoscopy. I live in the UK so this was easy for me to sort, though it was a miserable few weeks for me. Only my maternal grandfather is Persian. My maternal grandmother's family is of European ancestry and has been in the US for several generations. After looking at the chromosomes several times, it looks like several of them are almost or completely composed of only one ethnicity without any recombination. Is this lack of recombination unusual for someone so ethnically diluted like myself? [Chromosome Painting](https://imgur.com/a/qMxJGHx) Just to make sure, you can see the links right? As I was replying to you, I realized a few things and erased my first comment. 1. 23andme also told me that I was likely to weigh more than average. This isn't true. I was always a very skinny child and adult with a BMI of 17 in high school and 19-20 now. I only gained a significant amount of weight (for me) in a short period after eating gluten free for a month, but this weight was likely gained from eating too many gluten free carbs. Could I have been skinny because of untreated celiac? 2. If I'm eating carbs regularly and I haven't eaten in a few hours, my stomach hurts so bad until the pressure is released as gas hours later. I eat keto these days for other issues, but when I eat keto or when I was gluten free, none of this pain was an issue. The only thing is I don't know if a doctor will be convinced to order an endoscopy because my bloodwork was negative. Is this an issue I should revisit with my doctor? I'm an American, but I do have decent insurance, so that won't be a problem. I can say that I had a very similar experience with weight. Significant bloating is pretty consistent with coeliac, yes. If your family has a history of such issues and you're feeling consistant coeliac symptoms (as it seems you are) i'd go back to your doctor and ask, if you're up to it. You should investigate the common symptoms and try to honestly match your experiences with symptoms, and when you speak to your doctor detail it, and show them why you think it's a problem. My own blood-test wasn't conclusive at all, but from it and other symptoms I had described to my doctor had convinced him to ask me to get an endoscopy himself. I will not pretend it's nice or easy to get an endoscopy; it was a 6-8 week period where I was eating gluten, and I was not well. The endoscopy itself is not a pleasant experience. I am however much happier now that I know for certain and my health and lifestyle after cutting out all gluten has really improved. [POST TITLE]: RESULTS ARE IN..AND MOSTLY NO SURPRISE :) [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Hey! I’m a super European with increased risk for age related macular degeneration! Don’t think my blue eyes are going to help- gonna keep those sunshades on Woohoo! We can join the same clan and eventually go blind in our old age while wearing sunglasses to protect our blue eyes! :D [POST TITLE]: HELP WITH INTERPRETING RISK OF MACULAR DEGENERATION BASED ON TEST RESULTS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I think you are misinterpreting the likelihood and odds ratio tables. Those tables are not personalized, so you'd be looking at the row that says two copies of Y402H variant and the likelihood and odds associated with that. Here are some things you can do to in order of importance to lessen your risk of Macular Degeneration. 1. Stop smoking. This actually increases the risk of macular degeneration and if you already have it it will speedup the process. 2. Eat berries. Blue berries are best but strawberries and raspberries will work too. If you are allergic to berries there are over the counter multivitamins for people with macular degeneration. 3. Get healthy. Do cardiovascular exercise regularly. Become a healthy weight. Eat healthy. Be well rested. Your eyes are part of a system (your body). If one part of your system is not working right it will effect the others. 4. See your eye Doctor regularly, even if you have good vision. Doc. would bury me in the back yard if he knew I put this so far down on the list. If you have macular degeneration you will not notice until it is well developed. Your eye doctor can see it develop years if not decades before you notice anything. One thing to note is that if you live long enough you will get macular degeneration. It is part of the normal aging process of the eye. In your 40's you will need bifocals. In your 60's you will get cataracts. In your 80's you will get macular degeneration. These are averages. I have helped people in their 20's with cataracts, people in their 40's with macular degeneration and I know one person in their 50's that by some miracle still does not need bifocals. By doing the items on the list you may be able to push that macular degeneration back a decade and once it starts developing keep it going at a snails pace. That makes more sense, thank you! So 1.64 times likelihood then. [POST TITLE]: AGE-RELATED MACULAR DEGENERATION REPORT [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I got that same report but my good friend did not. I knew my Dad had some macular degeneration so I am not surprised. It confirms for me that I have the risk so I can work to delay the onset. I will wear my cool sunglasses as much as I can! http://www.allaboutvision.com/conditions/amd-prevention.htm Yeah, I tested positive for BOTH of the variants they tested for but no one in my family has this disease, strange. [deleted] I got 1 variant, my son and husband both got 2. My grandmother had AMD before she died, but she was also a heavy (2.5+ pack a day) smoker for 70 years before she died so, hopefully that's what increased her chances. I did, and my grandmother had it. It's only a risk factor, not a life sentence, so if no one in the family has it it's not surprising. I suppose I need to look after my eyes better though... It showed you as homozygous carrier also? From the research, looks like it confers a slightly higher risk only...thanks for forwarind that article! Looks like no one can go wrong by following those steps there. Just speaks to how the gene confers only a slightly higher risk of developing the disease. Thank you for this info. I'm going to remove all the LED bulbs in my home too. Actually I was heterozygous for the two main genes - rs1061170 and rs10490924. But I had also run my genes through Promethease which showed homozygous (C) for rs800292, and hetero at rs3025039, rs11200638, rs3793784, and rs1136287, all of which mildly increase the risk. I will just have to follow the healthy protocol, dont smoke, etc.... I just saw on the report there is a "scientific details" section which offers ways to reduce risk, and a FAQ section too. [POST TITLE]: QUESTION REGARDING LIKELIHOOD/ODDS RATIOS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [POST TITLE]: HEALTH RESULTS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I can speak on the macular degeneration (because I got that result, too). I went to the eye doctor because my light sensitivity was worsening (to the point where even cloudy days induced migraines). After some testing, she established that my eyes don’t produce tears, haven’t produced tears for quite some time, and the lack of tear production has already caused moderate damage to my eyes. But wait, there’s more! In addition to that, I also have ocular hypertension (which is the source for glaucoma and cataracts). I just turned 38, but I have the eyes of a 70 year old. It’s freaking depressing. I told my eye doctor about the 23andMe findings after she ran her tests. She said it’s helpful to her to know it, because that plus my symptoms clued her in that further testing was necessary. The good news: I get to take an eye drop for the rest of my life... and it has helped quite a bit. The bad news: my eyes are damaged enough that I’m becoming photophobic (and not just light sensitive). I would urge you (and anyone else with the macular degeneration result) to see an ophthalmologist ASAP. I’ve been light sensitive my whole life, and discounted my increasing light sensitivity for far too long. Now I’m learning to cope with photophobia and I’m trying to find lamps that won’t aggravate my condition. Disclaimer: I’m not a doctor, but I do like being able to see. I mentioned it to my ophthalmologist at my last appointment. He said to eat a lot of dark green veggies and recommended some vitamins. He said the most important thing was to not take up smoking. A [study](https://nei.nih.gov/news/pressreleases/050513) found that a group of supplements now referred to as AREDS2 can provide some protection, mostly omega-3 fatty acids, lutein and zeaxanthin. My mother has had it for about eight years (or *known* she had it for about eight years) and the supplements seem to have stabilized it a bit. I've been taking them too recently, but so far don't have any issues. Might be worth you doing the same, as a precaution. Also, wear sunglasses in the sun! I got that too and only had a slight increase in risk in one other thing. I’ve already gone through heart surgery for a congenital heart defect, two craniotomies for a brain tumor, and a slew of other rare health problems, so I was really expecting worse. I texted my mom and said “i refuse to believe I’m this healthy” Increased risk on it's own doesn't actually mean much, if you have a family history of macular degeneration then it means more, but it's still not a guarantee you will get it. If you don't have any vision problems at the moment then you really shouldn't be concerned about this, but if you want to speak to a professional about it the best person is a genetic counselor. I haven't really thought about talking to the doctor about my results. I have an increased risk for the age-related macular degeneration. Then only a slight increase for celiac disease and hereditary thrombophilia. Haha that’s exactly how I was feeling although I was kind of like dang I guess I just need to take better care of myself! I feel if there’s more than one variant speaking to a genetic counselor would be helpful but for specifics like in my case probably an optometrist would be best. I’ve had glasses since I was in second grade and they get worse every few years. Currently in my mid 20s with -5.50 vision in both eyes. [POST TITLE]: HOW DO YOU FEEL ABOUT YOUR GENETIC HEALTH RISKS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I got an interesting result when I ran my data through promethease. It said I have a mutation on my MSH6 gene which means I have Lynch Syndrome, a pretty serious syndrome which significantly ups my lifetime chances of getting colon and/or endometrial cancer. It’s normally inherited (neither of my parents had it show up on theirs) but up to 5% of people can have a de novo mutation so I’m going to have a blood test with a genetic counselor just to confirm either way. Same here! But then I used Promethease, and was alerted to other things, some of which are worth monitoring. So I'm going to check my thyroid periodically, and talk to my eye doctor about the AMD in a few months. No reason to panic, but these things run in both sides of my family, so it really shouldn't have taken a test to motivate me... But it did! I got absolutely nothing for 23andme--I was honestly expecting at least one, haha. Got nothing for Alzheimer's and Parkinson's too, which I was pretty glad about. I can't help but feel as though this isn't as accurate for me as it is for other people, however. Are there any people here with non-European ancestry or more specifically Asian people that got anything? I ran my results through both codegen.eu and Promethease, which both gave me a few things to worry about. Not too good! Did the promeatheas one came out pretty bad for all the things my immediate family died of or got diagnosed with. Oh well got to die of something I guess. Did say that some part of my brain was larger than normal, looked that up it on a separate site, said I should be smarter than average. Welp that's certainly not true....so if it's wrong about me being smart, maybe it's wrong that I'm going to have some super extremely shitty luck in the future. I chose not to receive the genetic health risks. If I came back with risks I would worry too much about them. I go to the doctor and get screened for immediate health needs but I would just focus too much on the risks and not enjoy life. Nothing too surprising. I have increased risk for celiac disease (✅ diagnosed 3 years ago lol) and macular degeneration and Alzheimer’s, which are big in my family. I was more interested to see that I’m a carrier for cystic fibrosis. The only thing I got of concern is a slightly increased risk for Celiac's disease - which I'm actually not surprised about at all, I've been gluten-free for years because I've always been a little sensitive to gluten; so I'm guessing my intolerance wasn't something in my head all along. My results flagged that I had the same issue - I went to my optician yesterday as I hadn't been for over two years and mentioned this to him. He spent quite a bit of time checking my eyes over and found that there are early signs of 'dry' AMD in one of them - I'm only 53 so it's a lot earlier than I would have hoped :-( Nothing in my lifestyle should have caused this - I have never smoked, run 3x a week and eat plenty of veg. I don't have any symptoms yet, but I was given an Amsler grid to check myself with weekly, plus I've ordered a lutein / omega-3 supplement - it might not help, but it won't cause any issues if it doesn't. I had a couple of things- I have the macular degeneration genes as well, as does my father. He said his grandmother had age related macular degeneration so that makes sense. I am a carrier of PKU- so no inbreeding for me :). Luckily pku is newborn screen so if any of my kids have it they will know right away. Interesting to compare results to promethease. It showed both of those results but had some more actual alarming results. Apparently my body is super sensitive to Warfarin and similar drugs. This is highly relevant if I ever have surgery. I also am homozygous for a gene that makes me more likely to do risky behaviors?? Digging through promethease results can be a huge rabbit hole but the top relevant ones are interesting. I did Promethease too. I'd like for things to be more 'confirmed' before I worry too heavily. It bumps my AMD risk to the top of the page. I might be at risk of T2D but it doesn't show up when I select ClinVar. I also found some interesting information that some antidepressants may not work on me. Good to know if I ever need to switch. I’m Caucasian and didn’t get anything so I don’t think it’s different ancestry that determines the health factors It is usually just different probabilities. Most things are at least somewhat environmental. The advice is similar to what we've always heard. Eat your vegetables, watch your weight, exercise, and don't smoke. [POST TITLE]: CAN ANY SITE TEST FOR SCHIZOPHRENIA? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [deleted] Impute.me tested for a lot of genes associated with schizophrenia. Upload your raw file Promethease.com it is free I uploaded my husbands and my 23andme raw data to Promethease & we both have lots of genes that are associated with schizophrenia and bipolar. We don't have it but sometimes I wonder if some things we worry about or do is a sign. Now that I'm older I hear family members have kids with ADHD & austism. Our son was diagnosed with Bipolar he's got problems. Not everybody develops these mental illnesses but I guess it's good to have a heads up! There is no genetic test for schizophrenia per se. There are genes that researchers have identified that may be associated with schizophrenia. But all mental illness is polygenic and also affected by environment. So just knowing you have some genes that might be associated with schizophrenia isn't a diagnosis. It's pretty close to meaningless. I understand, I mostly just wanted to see if I carry these genes, as the MS Parkinson's, and tourette's was believed to be flukes, but schizophrenia is running rampant. My 2nd cousin said several others might be showing early signs of it, and so far, it's mostly in our men, with my cousin being the first known female. Google also states that trauma (physical/sexual abuse, or a traumatic death) seems to trigger schizophrenia in people who have the genes. All the people who currently (including my 2nd cousin deceased father) were substance abusers, and I'm aware that my little cousin was also going through a lot of bad family issues (that side of my family is really fucked up, and her mother is a pos, who shacked a pos guy who was not nice to my 3 little cousins). I have 2 schizophrenia, more then 2 Parkinson's, several ms, and 1 tourette's genes. The Parkinson's(moms brother) and tourette's(mom) seem to have been triggered by an allergic reaction in the brain to medications both these people were on (the same medication for depression). I'm mostly just want to keep an eye on the schizophrenia as I have a toddler, and my sister has 2 boys, with a 3 being wanted. Being aware of this just means that we could possibly catch it early, and maybe our children wont end up like my great uncle. The family disowned him because he was schizophrenic, and that sent him over the edge and made him stop treatments. ☹ Yes, I agree with this recommendation. Because it takes all the schizophrenia SNPs into account into an overall score. You can't use Promethease for schizophrenia. There's hundreds of SNPs associated with schizophrenia. Promethease will leave you clueless because you'll "have some of them". But it's actually the balance between how many good and bad that matters I understand and agree. My moms side has schizophrenia running rampant among us, with my 1st cousin being one of them. So it absolutely is a real threat to my child, and my sisters children. Both of us are also trying to conceive (well, shes unfortunately going through a miscarriage right now, but will get back at it as soon as the dr says she can). I'm not worried about myself or my sister. It's just something my sister and I want to be aware of. We're far more likely to go blind, as that's very strong in all individuals on my dads mothers tree. Luckily it mostly only rears its face over 80. Alzheimer's/dementia is the exact same on that same family line. Very old age is expected on both sides. As in mid to late 90s for non substance abusers. Substance abusers die by 70, except for grandpa c. No one including the drs knew how the hell he was still kicking at 93 (he was still walking, 100% lucid, and drinking right up until he was put on his death bed...took a week to die). He was a raging alcoholic with cancer everywhere (all the red flagged genes for specific cancers I saw today... he had them all... lung, throat, liver, pancreas, stomach, prostate, colon... the guy was more cancer then human lol... I joke, but he was not a good person). Edit: oh, and every other red flag was chrons... so I googled it, and well shit, the mild matches me exactly. It explains so much, so now I need to make an apt with my dr to get checked out. I'll also be getting my toddler checked too, as hes starting to show similar symptoms to me. Please read the comments, as I already clearly addressed this. I uploaded to this site, it's just a really long wait time. Totally understandable though. But it is another source of information. To correctly estimate any multigen trait, you use GWAS and a ZScore to get a significant value depending upon en your reference dataset, i.e. 1000Genomes. Still, it is free and anyone should use it as long as remain free :). Right I understand you're looking to see if you have the genetic component. I guess a better way of putting it is that the science on the genetics of mental disorders isn't quite good enough for 23andMe, which has to get FDA approval for the reports it offers. And all such a report could tell you anyway is that you have a higher risk of the disorder - which is something that you basically already know given your family history. It's not a disease with a simple inheritance like cystic fibrosis. There are multiple genes involved and you and your children are almost guaranteed to have some of them. Quantifying your risk is very hard and not something any service currently offers. So there's nothing you can do other than provide a good environment for your children, and get them mental health care if and when they show symptoms. Why, though? It's wrong. As you write yourself. What you describe is essentially what impute.me does, and that's also free. That's the part as an adoptee that I've found invaluable, because I had no family history to consider, so knowing there's an increased risk in a particular issue as evidenced by a variant is helpful to me, just to keep an eye on something (even with the caveat that they don't test for all variants of something . But you are totally right that knowing the incidence is say, 1:200 instead of 1:1000 is just that, a statistical increase in possibility, but not a given that it will be an issue. As well, some of these things we carry can be activated or expressed later in life, triggers, as it were, and we don't know what those triggers are. u/Digimonsterr You mentioned a few triggers for schizophrenia, and I just wanted to add there are others, such as drug use, so your best recourse is to research the illness itself for the latest info. Another think you might do is draw out a family tree, even with the overlapping branches, to determine which branches seem to have the trait, since it seems to be related though a great-grandparent, if second cousin is the closest relative with it. It may be that reduces your statistical likelihood. You can use the Leeds method with a spreadsheet to separate out your matches into groups, then cross reference it with known incidences of expression. > if second cousin is the closest relative with it. It may be that reduces your statistical likelihood. You can use the Leeds method with a spreadsheet to separate out your matches into groups, then cross reference it with known incidences of expression. 2nd cousin does not have it, and is past the age of getting it. His father had it. My 1st cousin has it (my mothers brothers kid). So its def in my tree. We know it comes from my grandmother (moms mom), as my 2nd cousin is not related to my grandpa (my moms father). I personally cannot build a tree, as I don't speak to that side of the family. My moms brother has an incredibly detailed family tree, which includes known illnesses like his Parkinson's, my mothers tourette's, his daughters schizophrenia, his aunts MS, etc. When my mom passes, I'll have access to that side of the family again. [POST TITLE]: NEW HEALTH REPORTS READY TO ACCESS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I had one variant for late set Alzheimer's. Not surprisingly...I'm 40 and already can't remember day to day words etc. just glad it was only one variant! I also opted in. Also pan-negative. Same. Pan-negative I'm relieved to see that I was negative for all variants. My grandmother is currently suffering Alzheimer's so knowing I at least don't have the one variant was a relief. It's really hard to watch someone you love go through that disease. Thankful to be negative on all variants. My husband had a slight risk for late onset Alzheimer's though.. Are you Mae or female? One variant may not even pose a risk for men. Furthermore, this is no indication that you will develop the disease. Just higher risk for it. Day to day forgetfulness is normal! Whys that? Is he carrying one allele? With Parkinson's, there is one gene that will indicate you are TWICE as likely as the normal population to develop Parkinson's. Catch is over your life time, odds of Parkinson's is 1 in 1000. So twice as likely means 1 in 500. T put that into context, odds of being killed in a car accident is 1 in 100. Irony is the main genetic link that 23andme started searching for wrt Parkinsons, the LRRK2 is one I don't have an issue with. They did discover "people with Parkinsons, and negative for LRRK2 variation, had a cluster of another genetic issue." Yes, I was in the later group. "We detected one copy of the ε4 variant in the APOE gene" Thanks for explanation. Good luck to you, bro. [POST TITLE]: SO... I'M COUGHING UP BLOODY MUCUS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Walking Pneumonia maybe. I would get that checked out. Other then that, I'm having a good breathing day! Well, certainly relatively I am fine (had a crappy cold stick with me since before Christmas, but that’s minor comparatively). Going to ask the obvious question and ask if you have spoken to a doctor about this... it’s not the best sign. Hoping you get better soon :| Sometimes that happens to me if I'm coughing really hard. I'm having a mystery allergic reaction. I have MCAS so that's not unusual for me, but this one sucks. I already took four Benadryl and it's not helping. ive had a nasty sinus infection for the past couple of days, starting to clear up now, good luck to you Fighting off a sinus infection with antibiotics (waited 4 weeks, it just kept getting worse so had to ask for some). Trying not to catch anything respiratory. I hope you do indeed get to see a doctor as that does not sound good! I've never coughed up blood before, I think I'd be seeing someone about that. Is your breathing ok? I hate how long viruses stick around and how exaggerated something simple like a cold becomes with this condition. I think my two year old has asthma thanks to my genetics and I feel awful about it. We were in the ER with a "viral wheeze" last summer and she's needed Ventolin twice since (once in an environment with a woodstove, and just yesterday with a weird cough that kept her up all night). I need to book her for pulmonary function testing. I have had asthma for almost 30 years and have never coughed up blood. If you haven't yet, you should see a doctor. Can’t breathe out of my nose :( Having a weird couple of days with my asthma (but a good weird). Breathing feels off, so I take multiple inhalers. Take my peak flow and it's the best ever! I guess the inhalers are working lol bc then I'm back down to my green/yellow zone. Hope that mucus is doin okay for ya! Hope you feel better! I have had similar things happen when it gets cold and have had a sinus infection.. the blood was from the drainage. Today I am pretty tight in my chest, but I did fall asleep with my floor fan on high which I usually do not do). I do tend to sleep with my mouth open. So I’m congested and coughing up phlegm. The usual. I have the cold that’s been making its way around my office. Of course, feeling a little bad for myself, because those people can function, and once my asthma gets started, I have to call off and it has me a little down. I think I may be getting over it to an extent though. It’s better not to wait too long- sooner you get a lung infection under control the better. Like I don’t know if you’ve been bed bound for weeks before yet but that’s the situation you are trying to avoid. As with most things If you are having a coughing fit or similar and the blood is bright red (new blood) then the likelihood is that a small blood vessel popped whilst doing this. It can also happen if you sneeze, blow your nose or cough up some particularly stubborn mucus. If there is still continuous blood after an hour then I would seek assistance. It the blood is slightly rustier in colour then I would go and see someone ASAP as this could mean something worse. I regularly have bloody mucus from my chest and sinuses and these are the things I have been taught so that I don’t panic every time. Hope u feel better soon. My colds always start with a sore throat, then move to sneezing / congestion, then move to coughing and wheezing. And then somewhere after that eventually get better. I often cough up mucus with streaks of blood. I went to emergency the one day because I had that and chest pain. Turns out the chest pain was just gas and the blood was likely from a slight tear somewhere that was too small to see on chest x-ray. That may not be the case for you but for me the doctor was not worried. you should get a CT scan just for good measures. I was diagnosed with Asthma this Monday after years and years of being given meds for bronchitis.. Uh oh. Good breathing days are great. [deleted] Walking pneumonia doesn’t show up on X-ray. Btw. Bloody mucus, are you coughing extremely hard or in spasms? Either way...if it continues...go to doctor. I have not, will if it gets worse. Was it a normal cold? Seems awfully long time to have one. This disease sucks ass. Have you called a doctor yet? Did it sorta start in your chest and then start coming out of your face? I feel like I had this and cleared my chest decently with steroids and nebulizer but now my face is leaking and swelling. Not a good look. How long does it last? I'm planning on seeing doctor tommorrow and no its Hard to breathe. It must be scary to see your child go trough that. Have you taken her to asthma test? I Will. Your comments are freaking me out enough to do so. Did it start in your chest and travel up to your face? I feel like I have some weird reverse cold thing. Please don't bring your mucus in a container. Well i've had it twice in my life, both times were diagnosed by x-ray. The first time I went 2 months before it was diagnosed. The second time the main symptom was bloody mucus. Infection is one of the top reasons for bloody mucus. It was a relatively normal cold, with a nasty cough. It’s got a bit better, but just doesn’t seem to want to let go. I have a non-asthmatic friend who is having similar issues, so I don’t think it’s just my health being crap (this time). Mostly pissed off I can’t get back to the gym, as I would like to regain some level of fitness, but not feeling good enough to start, as it were. Seriously though, coughing up blood is not a great sign - see your doc if it doesn’t go away, don’t wait for it to get worse. I'll go to urgent care in a few hours if I'm not better. My breathing is ok so far. haha this is kind of gross but im sure everyone here understands. for me it started out with a bunch of runny mucus going down from my nasal cavities into my throat and chest. the first couple days i was just coughing up runny mucus and having trouble breathing, then after using my rescue a fair amount, along with mucinex, xyxal, montellukast and blowing my nose a lot, my mucus has kind of solidified and thinned out and i’ve coughed most of it out. it lasted about 4 or 5 days. the first 3 were miserable. but i made it through! Not yet, no. We have Ventolin for her if it flares up but no formal diagnosis yet. Take care of yourself, I hope the doctor gives you good news. Don't get to freaked out, there could be other explanations but it would be best to be sure. [deleted] Yes it is a sign of infection. Stay safe :( I fully appreciate this detailed reply :) thank you. I hate having asthma, I never know if I'm just sick, dying, or having some kind of severe reaction. oh the joys :) Thanks, but don't tell others to do it either. Thanks, you too. it’s the worst. mucus is probably my greatest enemy in the world. same here. I wish I could take something that legit just killed mucus. scientists, please get to inventing, thanks. [POST TITLE]: SO... I'M COUGHING UP BLOODY MUCUS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Walking Pneumonia maybe. I would get that checked out. Other then that, I'm having a good breathing day! Well, certainly relatively I am fine (had a crappy cold stick with me since before Christmas, but that’s minor comparatively). Going to ask the obvious question and ask if you have spoken to a doctor about this... it’s not the best sign. Hoping you get better soon :| Sometimes that happens to me if I'm coughing really hard. I'm having a mystery allergic reaction. I have MCAS so that's not unusual for me, but this one sucks. I already took four Benadryl and it's not helping. ive had a nasty sinus infection for the past couple of days, starting to clear up now, good luck to you Fighting off a sinus infection with antibiotics (waited 4 weeks, it just kept getting worse so had to ask for some). Trying not to catch anything respiratory. I hope you do indeed get to see a doctor as that does not sound good! I've never coughed up blood before, I think I'd be seeing someone about that. Is your breathing ok? I hate how long viruses stick around and how exaggerated something simple like a cold becomes with this condition. I think my two year old has asthma thanks to my genetics and I feel awful about it. We were in the ER with a "viral wheeze" last summer and she's needed Ventolin twice since (once in an environment with a woodstove, and just yesterday with a weird cough that kept her up all night). I need to book her for pulmonary function testing. I have had asthma for almost 30 years and have never coughed up blood. If you haven't yet, you should see a doctor. Can’t breathe out of my nose :( Having a weird couple of days with my asthma (but a good weird). Breathing feels off, so I take multiple inhalers. Take my peak flow and it's the best ever! I guess the inhalers are working lol bc then I'm back down to my green/yellow zone. Hope that mucus is doin okay for ya! Hope you feel better! I have had similar things happen when it gets cold and have had a sinus infection.. the blood was from the drainage. Today I am pretty tight in my chest, but I did fall asleep with my floor fan on high which I usually do not do). I do tend to sleep with my mouth open. So I’m congested and coughing up phlegm. The usual. I have the cold that’s been making its way around my office. Of course, feeling a little bad for myself, because those people can function, and once my asthma gets started, I have to call off and it has me a little down. I think I may be getting over it to an extent though. It’s better not to wait too long- sooner you get a lung infection under control the better. Like I don’t know if you’ve been bed bound for weeks before yet but that’s the situation you are trying to avoid. As with most things If you are having a coughing fit or similar and the blood is bright red (new blood) then the likelihood is that a small blood vessel popped whilst doing this. It can also happen if you sneeze, blow your nose or cough up some particularly stubborn mucus. If there is still continuous blood after an hour then I would seek assistance. It the blood is slightly rustier in colour then I would go and see someone ASAP as this could mean something worse. I regularly have bloody mucus from my chest and sinuses and these are the things I have been taught so that I don’t panic every time. Hope u feel better soon. My colds always start with a sore throat, then move to sneezing / congestion, then move to coughing and wheezing. And then somewhere after that eventually get better. I often cough up mucus with streaks of blood. I went to emergency the one day because I had that and chest pain. Turns out the chest pain was just gas and the blood was likely from a slight tear somewhere that was too small to see on chest x-ray. That may not be the case for you but for me the doctor was not worried. you should get a CT scan just for good measures. I was diagnosed with Asthma this Monday after years and years of being given meds for bronchitis.. Uh oh. Good breathing days are great. [deleted] Walking pneumonia doesn’t show up on X-ray. Btw. Bloody mucus, are you coughing extremely hard or in spasms? Either way...if it continues...go to doctor. I have not, will if it gets worse. Was it a normal cold? Seems awfully long time to have one. This disease sucks ass. Have you called a doctor yet? Did it sorta start in your chest and then start coming out of your face? I feel like I had this and cleared my chest decently with steroids and nebulizer but now my face is leaking and swelling. Not a good look. How long does it last? I'm planning on seeing doctor tommorrow and no its Hard to breathe. It must be scary to see your child go trough that. Have you taken her to asthma test? I Will. Your comments are freaking me out enough to do so. Did it start in your chest and travel up to your face? I feel like I have some weird reverse cold thing. Please don't bring your mucus in a container. Well i've had it twice in my life, both times were diagnosed by x-ray. The first time I went 2 months before it was diagnosed. The second time the main symptom was bloody mucus. Infection is one of the top reasons for bloody mucus. It was a relatively normal cold, with a nasty cough. It’s got a bit better, but just doesn’t seem to want to let go. I have a non-asthmatic friend who is having similar issues, so I don’t think it’s just my health being crap (this time). Mostly pissed off I can’t get back to the gym, as I would like to regain some level of fitness, but not feeling good enough to start, as it were. Seriously though, coughing up blood is not a great sign - see your doc if it doesn’t go away, don’t wait for it to get worse. I'll go to urgent care in a few hours if I'm not better. My breathing is ok so far. haha this is kind of gross but im sure everyone here understands. for me it started out with a bunch of runny mucus going down from my nasal cavities into my throat and chest. the first couple days i was just coughing up runny mucus and having trouble breathing, then after using my rescue a fair amount, along with mucinex, xyxal, montellukast and blowing my nose a lot, my mucus has kind of solidified and thinned out and i’ve coughed most of it out. it lasted about 4 or 5 days. the first 3 were miserable. but i made it through! Not yet, no. We have Ventolin for her if it flares up but no formal diagnosis yet. Take care of yourself, I hope the doctor gives you good news. Don't get to freaked out, there could be other explanations but it would be best to be sure. [deleted] Yes it is a sign of infection. Stay safe :( I fully appreciate this detailed reply :) thank you. I hate having asthma, I never know if I'm just sick, dying, or having some kind of severe reaction. oh the joys :) Thanks, but don't tell others to do it either. Thanks, you too. it’s the worst. mucus is probably my greatest enemy in the world. same here. I wish I could take something that legit just killed mucus. scientists, please get to inventing, thanks. [POST TITLE]: I’M 27, AND I THINK I HAVE BREAST CANCER [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I have mentioned this to a few other people posting on this sub, but if you're asking for other people's experiences and ask a cancer support group/subreddit, you're going to get a lot of people saying they ended up with cancer and you might scare yourself more than you need to. Wait until you get your test results before panicking. Good luck. I'm glad you are getting it checked quickly! Hopefully it's nothing. When I found the lump, I also had a bad feeling it was cancer. My lump was painful. It felt like I was elbowed in the boob. They didn't think mine was cancer but it turned out to be. If It does turn out to be cancer, please message me if you want to chat. I'm crossing my fingers for you! The doctors told me that 80%-85% of lumps are NOT cancerous. I was diagnosed at 30 with many of the same symptoms. Turned out to be stage 3 TNBC. Going through my chemo now. Hope everything turns out ok, best of luck. I forgot to mention I have nipple pain, dimpling, and a history of breast cancer in my family. I sure am hoping it’s just a cyst or infection. Well, the symptoms sure are indicative of some less than wonderful events happening... please, please, please push for a biopsy. I was misdiagnosed at 26 due to the radiology techs not taking me seriously because I was “too young”. The pathologist, the one who will analyze the biopsy tissue sample, will be able to give a definitive answer. Do you have a family history of breast or any other types of cancers? Also, in the event this is cancer, make sure to connect with The Breasties on Instagram. It’s a huge community of women who have been affected by breast and reproductive cancers. They were my lifeline through treatment. Praying for good news for you, girl. Please keep us updated ♥️ My partner is 26 and we just went through the exact same thing. Worrying and waiting is inevitable, but it’s the hardest part. If I were to speak to myself 3 weeks ago I’d tell myself to try and be as positive as possible and use as many distractions as you can. Read a book, go out to the mall, watch a movie, make a complex dinner. Pass the time as fast as you can so that you can’t let your mind wander around in the meantime because the dwelling doesn’t help. Everyone’s different but that’s what I would do if I could turn back time. i was diagnosed last month, and although i am older than you, i am learning age and symptoms are all over the place. i almost cancelled my appt because i convinced myself it was nothing (no family history and did not want to be a hypochondriac). SO glad i did not! do not let anyone tell you you are too young or your symptoms are silly. be your own advocate. you may just have an infection, but still need to go to the doctor. and never ignore abnormal health concerns. your body will tell you when something is off. and you must listen to it. i knew something was wrong, and i am so glad i went with my gut. and do not be afraid! the community is amazing and so much love to you! you can reach out anytime. there are amazing resources. but no matter what, prayers with you, sister, and much love. You are doing all the right things. I had some bruising and my lump was painful too. My underarm was also painful but it turns out my lymph nodes were clear. Make sure to bring someone with you to appointment who can advocate for you if you have trouble finding words in the moment (I never have trouble finding words and I sure did during that first appointment). Between things, keep yourself busy and distracted and surrounded by positive people. I’m 27F who had a lump in my right breast. I had my ultrasound, mammogram, and biopsy all in the same week. So no matter what comes of it, hopefully you can receive results within a week or so. The waiting game is hard because you just don’t know. I had a lump at age 29 and my doctor tried to drain it like it was a cyst and didn't even consider it could be cancer. Turned out it was the most aggressive cancer and I have brca1. I'm sorry your family hasn't been tested for BRCA. Sounds likely. I hope you are ok and if it is cancer the drugs worked like a charm for me... 5 years ago I’m glad you’re getting it checked out! I was diagnosed in November at 31 and currently going through chemo. Had a bilateral mastectomy on Dec. 2. I’m hoping it turns out to be nothing for you but I had discharge and a painful lump. It really hasn’t been too bad for me. The hardest thing has been getting use to having low energy. I’ve always been so active and doing what I thought was the right thing to be healthy. Cancer is a horrible disease that doesn’t care what you’ve done or who you are. And don’t be afraid to tell people. I’ve gained a lot of great people in my life going through this. [deleted] One more question...is darkening of the skin a symptom of cancer? There are spots on my breast near the lump that look almost....bruised. What’s that about? I was diagnosed at 27. You are right all you can do is take the steps to find out what is going on. There’s a great community to offer you support if you get a diagnosis If you are interested in having a peer mentor if you end up being diagnosed, check out FORCE. Or imerman angels. > I’m trying not to tell people I know because I don’t want to freak them out. While I understand this thought, I would recommend to tell at least one trustworthy person to get support there. They can help you distract yourself during the waiting time. And it also helps to have a close friend or family member at the talk with the doctor, because you'll get many information while being nervous and might overhear/misunderstand things - a second person can help you sort things out. Also, I was and am very open to my relatives, close friends, and collegues about my diagnosis and so far I'm really glad about it. I receive great support, encouraged other women share their experience. And when I went to hear my biopsy results, the doctors told me they had two important messages for me: 1. It is indeed BC and 2. BC has very high survival rates in developed countries. So yes, I have to undergo treatment, but with that I can still get old. So I try to focus about the second message, maybe that thought helps you as well. And while I wasn't happy to get the news, having a proper diagnose is the start point for treatment and getting rid of the tumor. Wish you all the best strength to go through the next steps! I found a lump in my left breast 2 weeks ago that screams cancer to me. I never knew how to check and it hurt too much to touch, but I've had pain in the lump's location for a long time, and I'm thinking it's been there for a while. I'm seeing a gynecologist today and this has been stressing me out. I hope it's nothing serious and I can get imaging done quickly. I'm almost 24. Hello. I’m sorry for all you are going through. All you can do is breathe and try to stay present in the moment now. I know that is so much easier said then done, but hang in there and do your best to remain calm. I was diagnosed with BC at 25, and I am now 3 years out. Feel free to message me if you wanna talk :) Update OP?? 27 is young for cancer... an infection with lymph node involvement is more likely. Cysts in the breast are very common. The mamo and ultrasound are very important, but try to just get through them, and make medical decisions once you have full data. Your replies are always spot on. ♥️♥️♥️ Thanks so much! I will definitely send you a message if it turns out to be cancer. I’ll need all the advice and experience I can get. Oh wow. I’m so sorry. I hope you’re able to overcome this. That’s both relieving and horrifying to hear you had the same symptoms. (Relieving just to know I’m not going crazy and that it’s not all in my head.) I’m sure it’s terrifying to hear you have cancer and I like to think I’m a strong person but idk how I will react if they tell me I have cancer. Much love and healing thoughts to you. Slinkyyy, Have you done genetic testing? Did you hear back yet? I had all of those symptoms mentioned and, sorry to inform you, I ended up being diagnosed with stage 2 breast cancer at age 30. Thank you so much. Yes my mother had a breast cancer removed at the age of 30, and my aunt died 2 years ago from ovarian cancer. My grandfather died of leukemia. I will definitely update and let you all know how this turns out either way. RemindME! 1 week I hope your partner turned out just fine. Thanks for the advice. I’m definitely going to try and distract myself with fun activities through the week. I hope you’re doing okay. ♥️ I don't know why your Dr told you that? Breast Cancer is often painful. Every single women in my BC group had pain in their BC tumour. It's one of the reasons I didn't go as soon as I should have because of misinformation on the internet that BC tumours don't hurt. Thank you very much. The large lump isn’t painful at all. It’s the smaller one in the armpit that is bothering me. I have 2 children both under the age of 3. I haven’t breast fed in over a year, so this was sudden. Any changes to your breast you should check out. The fact that you've had nipple discharge, two lumps & family history of BC means you should definitely push for a needle biopsy, mammogram & ultrasound. It's really common to have cysts & I really hope that's what it is. I personally knew before they told me. It was just a gut feeling I had. Wishing you all the best. I hope it turns out okay! Cancer doesn't care how old you are. I really wish people would stop with the "your too young for breast cancer" bit. I was diagnosed at 36 and have communicated with many who were diagnosed 30 and under. All of the symptoms she is describing are pretty classic breast cancer symptoms. I was diagnosed at 27 with many of the same symptoms. Breast cancer is soooo common that even being "uncommon" in younger women, there's a fuckton of us. Also, zero family history. The fact that her mother had it at 30 makes me fear for OP. <3 I’m 28 and I was diagnosed months ago. Don’t do this. I hope you dont have to hear those words! I hope it's something much easier to treat. If you think you're strong you will be! Just keep your head up no matter what. Feel free to message me any time! I have. Came back negative for anything. All environmental I guess. My appointment is at 8am tomorrow. I’m trying to keep it together, but I’m freaking out a bit inside. I’ve pretty much talked myself into believing I have breast cancer and I’ve accepted it at this point, but I don’t know how I’ll react when/if the doctor confirms it. I’m kind of in a depressive state about it right now. I’m so sorry you had to go through this as well. You should really get tested for genetic mutations that could lead to cancer, with your mom also being young and your aunt having OvCa. That’s a big read flag for BRCA. Sending you so much love!!! 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If you need motivation please reach out. I found she wasn’t too keen on it at first (couch and tv sounded better) but once she got out she was happy she did. Yes, they referred me for ultrasound, mammogram and biopsy as needed. I think what is scaring me the most is my gut is telling me it’s cancer and my intuition is normally right. Like when my gallbladder was acting up I knew it before they diagnosed me. Thanks! I just finished scheduling my ultrasound (it's in two days!). I feel less anxious now that I'm not just waiting for weeks on end. Thanks. I’d rather be wrong and feel foolish than be right about my suspicions but never get them checked out. My gut is telling me this is something to worry about despite my age. Nothing to do except wait for the tests at this point. I hope you’re beating it now. I’ve heard it can be aggressive in women under 30. It’s nice to know that if I do have cancer there are women out there that can relate and share their advice and experiences. ♥️ I hope you’re beating the hell out of it. ♥️ Thank you, I definitely will. One question, did you have the weird bruised looking skin? That really freaks me out. Do remember to get re-tested every year, or ask your testing facility to notify you if it's time to be re-tested. They are finding new markers, mutations and snips all the time. Wow. It was done through Myriad and they found nothing? I guess you got lucky, or there is a not-yet-identified triple negative risk gene out there? I hope the treatment is going well. Praying for you!! How did your appointment go? How did your appointment go? Hoping for the best for you Yes. Mention this family history to your doctor and insist on brca testing. Insurance will cover it. I’ve just recently been diagnosed and I’ve been sitting on the couch watching tv and googling in my spare time, it’s a vicious spiral that leads to more stress that your body doesn’t need. Suffice to say my oncologist now has me on anxiety pills. I understand. It is really scary & the first few weeks of waiting around are the worst. I really hope you just have some cysts which are the most common type of lump you'll find in your breast. I just had a feeling, I just knew & there was no reason for me to think that way as I didn't even have a family history of BC & I'm young. I ignored it for a few months because my lump was painful. There is a lot of misinformation on the internet. BC lumps can be painful, it's more of a throbbing pain like you have when you have your period. All the young women in my BC group had the same pain. I really hope your gut is wrong & that you get some answers soon. The waiting is the hardest bit. Just try & do things that occupy your mind so you're not worrying. You are welcome. When I was diagnosed I promised myself that I would be as honest as possible about my diagnosis and how breast cancer affects me and my life and those in it. This promise also included being honest to those who are seeking information about a possible diagnosis. Obviously I'm not a doctor but as a patient who is going into her 26th month of this I have learned a thing or two. One being that age doesn't matter. Who ever came up with this arbitrary number needs a swift kick in the butt. The other is that ignorance is not bliss. No matter how much sugar you throw at a situation, it isn't going to go away. As you said better to feel foolish and be wrong than to never get checked out and be right. Trust your body and trust your instinct. If I had of ignored mine, because of my age, I would probably be dead by now. I’m trying!! Thank you 💕 Yeah I did where my large tumor was. Turned out to be necrosis from the tumor dying due to lack of blood flow, that's also where a lot of my pain was coming from as well. [POST TITLE]: I’M 27, AND I THINK I HAVE BREAST CANCER [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I have mentioned this to a few other people posting on this sub, but if you're asking for other people's experiences and ask a cancer support group/subreddit, you're going to get a lot of people saying they ended up with cancer and you might scare yourself more than you need to. Wait until you get your test results before panicking. Good luck. I'm glad you are getting it checked quickly! Hopefully it's nothing. When I found the lump, I also had a bad feeling it was cancer. My lump was painful. It felt like I was elbowed in the boob. They didn't think mine was cancer but it turned out to be. If It does turn out to be cancer, please message me if you want to chat. I'm crossing my fingers for you! The doctors told me that 80%-85% of lumps are NOT cancerous. I was diagnosed at 30 with many of the same symptoms. Turned out to be stage 3 TNBC. Going through my chemo now. Hope everything turns out ok, best of luck. I forgot to mention I have nipple pain, dimpling, and a history of breast cancer in my family. I sure am hoping it’s just a cyst or infection. Well, the symptoms sure are indicative of some less than wonderful events happening... please, please, please push for a biopsy. I was misdiagnosed at 26 due to the radiology techs not taking me seriously because I was “too young”. The pathologist, the one who will analyze the biopsy tissue sample, will be able to give a definitive answer. Do you have a family history of breast or any other types of cancers? Also, in the event this is cancer, make sure to connect with The Breasties on Instagram. It’s a huge community of women who have been affected by breast and reproductive cancers. They were my lifeline through treatment. Praying for good news for you, girl. Please keep us updated ♥️ My partner is 26 and we just went through the exact same thing. Worrying and waiting is inevitable, but it’s the hardest part. If I were to speak to myself 3 weeks ago I’d tell myself to try and be as positive as possible and use as many distractions as you can. Read a book, go out to the mall, watch a movie, make a complex dinner. Pass the time as fast as you can so that you can’t let your mind wander around in the meantime because the dwelling doesn’t help. Everyone’s different but that’s what I would do if I could turn back time. i was diagnosed last month, and although i am older than you, i am learning age and symptoms are all over the place. i almost cancelled my appt because i convinced myself it was nothing (no family history and did not want to be a hypochondriac). SO glad i did not! do not let anyone tell you you are too young or your symptoms are silly. be your own advocate. you may just have an infection, but still need to go to the doctor. and never ignore abnormal health concerns. your body will tell you when something is off. and you must listen to it. i knew something was wrong, and i am so glad i went with my gut. and do not be afraid! the community is amazing and so much love to you! you can reach out anytime. there are amazing resources. but no matter what, prayers with you, sister, and much love. You are doing all the right things. I had some bruising and my lump was painful too. My underarm was also painful but it turns out my lymph nodes were clear. Make sure to bring someone with you to appointment who can advocate for you if you have trouble finding words in the moment (I never have trouble finding words and I sure did during that first appointment). Between things, keep yourself busy and distracted and surrounded by positive people. I’m 27F who had a lump in my right breast. I had my ultrasound, mammogram, and biopsy all in the same week. So no matter what comes of it, hopefully you can receive results within a week or so. The waiting game is hard because you just don’t know. I had a lump at age 29 and my doctor tried to drain it like it was a cyst and didn't even consider it could be cancer. Turned out it was the most aggressive cancer and I have brca1. I'm sorry your family hasn't been tested for BRCA. Sounds likely. I hope you are ok and if it is cancer the drugs worked like a charm for me... 5 years ago I’m glad you’re getting it checked out! I was diagnosed in November at 31 and currently going through chemo. Had a bilateral mastectomy on Dec. 2. I’m hoping it turns out to be nothing for you but I had discharge and a painful lump. It really hasn’t been too bad for me. The hardest thing has been getting use to having low energy. I’ve always been so active and doing what I thought was the right thing to be healthy. Cancer is a horrible disease that doesn’t care what you’ve done or who you are. And don’t be afraid to tell people. I’ve gained a lot of great people in my life going through this. [deleted] One more question...is darkening of the skin a symptom of cancer? There are spots on my breast near the lump that look almost....bruised. What’s that about? I was diagnosed at 27. You are right all you can do is take the steps to find out what is going on. There’s a great community to offer you support if you get a diagnosis If you are interested in having a peer mentor if you end up being diagnosed, check out FORCE. Or imerman angels. > I’m trying not to tell people I know because I don’t want to freak them out. While I understand this thought, I would recommend to tell at least one trustworthy person to get support there. They can help you distract yourself during the waiting time. And it also helps to have a close friend or family member at the talk with the doctor, because you'll get many information while being nervous and might overhear/misunderstand things - a second person can help you sort things out. Also, I was and am very open to my relatives, close friends, and collegues about my diagnosis and so far I'm really glad about it. I receive great support, encouraged other women share their experience. And when I went to hear my biopsy results, the doctors told me they had two important messages for me: 1. It is indeed BC and 2. BC has very high survival rates in developed countries. So yes, I have to undergo treatment, but with that I can still get old. So I try to focus about the second message, maybe that thought helps you as well. And while I wasn't happy to get the news, having a proper diagnose is the start point for treatment and getting rid of the tumor. Wish you all the best strength to go through the next steps! I found a lump in my left breast 2 weeks ago that screams cancer to me. I never knew how to check and it hurt too much to touch, but I've had pain in the lump's location for a long time, and I'm thinking it's been there for a while. I'm seeing a gynecologist today and this has been stressing me out. I hope it's nothing serious and I can get imaging done quickly. I'm almost 24. Hello. I’m sorry for all you are going through. All you can do is breathe and try to stay present in the moment now. I know that is so much easier said then done, but hang in there and do your best to remain calm. I was diagnosed with BC at 25, and I am now 3 years out. Feel free to message me if you wanna talk :) Update OP?? 27 is young for cancer... an infection with lymph node involvement is more likely. Cysts in the breast are very common. The mamo and ultrasound are very important, but try to just get through them, and make medical decisions once you have full data. Your replies are always spot on. ♥️♥️♥️ Thanks so much! I will definitely send you a message if it turns out to be cancer. I’ll need all the advice and experience I can get. Oh wow. I’m so sorry. I hope you’re able to overcome this. That’s both relieving and horrifying to hear you had the same symptoms. (Relieving just to know I’m not going crazy and that it’s not all in my head.) I’m sure it’s terrifying to hear you have cancer and I like to think I’m a strong person but idk how I will react if they tell me I have cancer. Much love and healing thoughts to you. Slinkyyy, Have you done genetic testing? Did you hear back yet? I had all of those symptoms mentioned and, sorry to inform you, I ended up being diagnosed with stage 2 breast cancer at age 30. Thank you so much. Yes my mother had a breast cancer removed at the age of 30, and my aunt died 2 years ago from ovarian cancer. My grandfather died of leukemia. I will definitely update and let you all know how this turns out either way. RemindME! 1 week I hope your partner turned out just fine. Thanks for the advice. I’m definitely going to try and distract myself with fun activities through the week. I hope you’re doing okay. ♥️ I don't know why your Dr told you that? Breast Cancer is often painful. Every single women in my BC group had pain in their BC tumour. It's one of the reasons I didn't go as soon as I should have because of misinformation on the internet that BC tumours don't hurt. Thank you very much. The large lump isn’t painful at all. It’s the smaller one in the armpit that is bothering me. I have 2 children both under the age of 3. I haven’t breast fed in over a year, so this was sudden. Any changes to your breast you should check out. The fact that you've had nipple discharge, two lumps & family history of BC means you should definitely push for a needle biopsy, mammogram & ultrasound. It's really common to have cysts & I really hope that's what it is. I personally knew before they told me. It was just a gut feeling I had. Wishing you all the best. I hope it turns out okay! Cancer doesn't care how old you are. I really wish people would stop with the "your too young for breast cancer" bit. I was diagnosed at 36 and have communicated with many who were diagnosed 30 and under. All of the symptoms she is describing are pretty classic breast cancer symptoms. I was diagnosed at 27 with many of the same symptoms. Breast cancer is soooo common that even being "uncommon" in younger women, there's a fuckton of us. Also, zero family history. The fact that her mother had it at 30 makes me fear for OP. <3 I’m 28 and I was diagnosed months ago. Don’t do this. I hope you dont have to hear those words! I hope it's something much easier to treat. If you think you're strong you will be! Just keep your head up no matter what. Feel free to message me any time! I have. Came back negative for anything. All environmental I guess. My appointment is at 8am tomorrow. I’m trying to keep it together, but I’m freaking out a bit inside. I’ve pretty much talked myself into believing I have breast cancer and I’ve accepted it at this point, but I don’t know how I’ll react when/if the doctor confirms it. I’m kind of in a depressive state about it right now. I’m so sorry you had to go through this as well. You should really get tested for genetic mutations that could lead to cancer, with your mom also being young and your aunt having OvCa. That’s a big read flag for BRCA. Sending you so much love!!! There is a 26.0 minute delay fetching comments. I will be messaging you in 7 days on [**2020-02-17 21:16:01 UTC**](http://www.wolframalpha.com/input/?i=2020-02-17%2021:16:01%20UTC%20To%20Local%20Time) to remind you of [**this link**](https://np.reddit.com/r/breastcancer/comments/f1wezj/im_27_and_i_think_i_have_breast_cancer/fh8xgbb/?context=3) [**CLICK THIS LINK**](https://np.reddit.com/message/compose/?to=RemindMeBot&subject=Reminder&message=%5Bhttps%3A%2F%2Fwww.reddit.com%2Fr%2Fbreastcancer%2Fcomments%2Ff1wezj%2Fim_27_and_i_think_i_have_breast_cancer%2Ffh8xgbb%2F%5D%0A%0ARemindMe%21%202020-02-17%2021%3A16%3A01%20UTC) to send a PM to also be reminded and to reduce spam. ^(Parent commenter can ) [^(delete this message to hide from others.)](https://np.reddit.com/message/compose/?to=RemindMeBot&subject=Delete%20Comment&message=Delete%21%20f1wezj) ***** |[^(Info)](https://np.reddit.com/r/RemindMeBot/comments/e1bko7/remindmebot_info_v21/)|[^(Custom)](https://np.reddit.com/message/compose/?to=RemindMeBot&subject=Reminder&message=%5BLink%20or%20message%20inside%20square%20brackets%5D%0A%0ARemindMe%21%20Time%20period%20here)|[^(Your Reminders)](https://np.reddit.com/message/compose/?to=RemindMeBot&subject=List%20Of%20Reminders&message=MyReminders%21)|[^(Feedback)](https://np.reddit.com/message/compose/?to=Watchful1&subject=RemindMeBot%20Feedback)| |-|-|-|-| She’s doing good! If you need motivation please reach out. I found she wasn’t too keen on it at first (couch and tv sounded better) but once she got out she was happy she did. Yes, they referred me for ultrasound, mammogram and biopsy as needed. I think what is scaring me the most is my gut is telling me it’s cancer and my intuition is normally right. Like when my gallbladder was acting up I knew it before they diagnosed me. Thanks! I just finished scheduling my ultrasound (it's in two days!). I feel less anxious now that I'm not just waiting for weeks on end. Thanks. I’d rather be wrong and feel foolish than be right about my suspicions but never get them checked out. My gut is telling me this is something to worry about despite my age. Nothing to do except wait for the tests at this point. I hope you’re beating it now. I’ve heard it can be aggressive in women under 30. It’s nice to know that if I do have cancer there are women out there that can relate and share their advice and experiences. ♥️ I hope you’re beating the hell out of it. ♥️ Thank you, I definitely will. One question, did you have the weird bruised looking skin? That really freaks me out. Do remember to get re-tested every year, or ask your testing facility to notify you if it's time to be re-tested. They are finding new markers, mutations and snips all the time. Wow. It was done through Myriad and they found nothing? I guess you got lucky, or there is a not-yet-identified triple negative risk gene out there? I hope the treatment is going well. Praying for you!! How did your appointment go? How did your appointment go? Hoping for the best for you Yes. Mention this family history to your doctor and insist on brca testing. Insurance will cover it. I’ve just recently been diagnosed and I’ve been sitting on the couch watching tv and googling in my spare time, it’s a vicious spiral that leads to more stress that your body doesn’t need. Suffice to say my oncologist now has me on anxiety pills. I understand. It is really scary & the first few weeks of waiting around are the worst. I really hope you just have some cysts which are the most common type of lump you'll find in your breast. I just had a feeling, I just knew & there was no reason for me to think that way as I didn't even have a family history of BC & I'm young. I ignored it for a few months because my lump was painful. There is a lot of misinformation on the internet. BC lumps can be painful, it's more of a throbbing pain like you have when you have your period. All the young women in my BC group had the same pain. I really hope your gut is wrong & that you get some answers soon. The waiting is the hardest bit. Just try & do things that occupy your mind so you're not worrying. You are welcome. When I was diagnosed I promised myself that I would be as honest as possible about my diagnosis and how breast cancer affects me and my life and those in it. This promise also included being honest to those who are seeking information about a possible diagnosis. Obviously I'm not a doctor but as a patient who is going into her 26th month of this I have learned a thing or two. One being that age doesn't matter. Who ever came up with this arbitrary number needs a swift kick in the butt. The other is that ignorance is not bliss. No matter how much sugar you throw at a situation, it isn't going to go away. As you said better to feel foolish and be wrong than to never get checked out and be right. Trust your body and trust your instinct. If I had of ignored mine, because of my age, I would probably be dead by now. I’m trying!! Thank you 💕 Yeah I did where my large tumor was. Turned out to be necrosis from the tumor dying due to lack of blood flow, that's also where a lot of my pain was coming from as well. [POST TITLE]: MY GIRLFRIEND WAS RECENTLY DIAGNOSED WITH A RARE TYPE OF BREAST CANCER. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] I'm sorry you've had to come here, cancer has affected all of us on this sub, and it's never easy. My breast cancer is not rare, but I have the BRCA2 mutation which makes up about 5-10% of cases of breast cancer. I was 31 at diagnosis this past summer, and the only reason they tested me for it is because it's very rare to get breast cancer that young, but the mutation makes it more common. Are they doing genetic testing for her since she is both young and has a rare type? It might be good to look into because there are other cancer risks with the BRCA mutations and she may need extra screenings or prevention. Again, I am so sorry that she has to go through this, but it means a lot for cancer patients to have a good support system. I went through it without a partner and I found that harder to deal with some days than the chemo and surgeries because I knew I didn't have anyone to really lean on when I would need it. Be there for her and it will help her more than you know. My best advice for any cancer is learn to talk about it. At first, my husband would ask "are you okay?" But we both knew it was the wrong question. So, figure out how to talk about the fear, sickness, and all the other change that comes. Also, routines can help you feel more normal. We learned that joking helped but everyone is different. I did 12 rounds of taxol and 4 AC as well. It's not nearly as bad as it's portrayed in the movies/tv, nor as bad as it used to be. Just make sure she takes her anti-nausea meds, and if they don't work, she should go back to her doctor to get different ones--it took me a couple of tries to get the right combination. She will lose her hair though, unless her facility allows her to cold cap (mine wouldn't for the AC). I had “the really nasty stuff” (A/C) and found it doable and not so nasty (though it wasn’t fun, either). I didn’t have Taxol. Throughout my chemos I was able to work, socialize, paint. My breast cancer was Stage 1, triple positive, DCIS, IDC, and lobular combined. Sort of garden-variety. This was almost 21 years ago, and the antiemetics are better now. Your girlfriend will do fine. Sending you both my best wishes. Wish you and girlfriend strength for the forthcoming time. Just be there for her is so comforting to know. I know I just didn't want people to treat me like I'm this person who has Cancer. They either feel sorry for me or just avoid me. So before telling others, make sure you ask her first. Cancer, esp. breast cancer is not as deadly as it used to be. And Chemotherapy side effects is different for everybody. Some will be very sick from chemo some will just be tired (like I was). She will need help with taking her to treatments and appointments. I am sorry to hear about this. A few suggestions: She will need to take her anti-nausea medications BEFORE she gets nauseated. If she has trouble sleeping, let the doctor know, because sleep is healing and she may need something to help her sleep. Also, see if you can find a breast cancer support group; they were very helpful to me. Finally, don’t be afraid to contact the doctor ANY time there are questions or concerns. Wishing you both the best. The older you survive, the more one has to watch cancer maim and kill people you know. That morbidness aside, it sounds like its not at a really bad stage. So being supportive and open is probably a good idea. I wish you two the very best during treatment. And after. She is very lucky to have you by her side. I'm a 5 year survivor. I had stage 2 HER2 positive. They loaded me up with meds for nausea which really helped. Some foods, coffee and other smells made me a bit nauseous. The shot of Neulasta I had to take each day after chemo was the worst of it. Bone pain etc. For me having the company of my spouse was very comforting. It helped me stay positive when I would start to feel scared. I did not have to work as I am disabled. I would say having someone to help get to and from chemo treatments would be nice. I did experience chemo fog. Kind of like not thinking quickly and forgetting some things. Chemo lasted for hours so a bag with things to do if sitting alone. Reading was hard for me to focus on at that time so I played games on my phone/ iPad. I believe having you by her side will be important. Good luck to you both. There might be highs and lows but you will get through it. I had metaplastic breast cancer and finished chemo about a year ago. Do you know what type of metaplastic breast cancer she has? There is a second cell type along with breast cancer (squamous, chondroid etc...). Where are you guys located? If you are in the US, there is a physician at MD Anderson that specializes in metaplastic BC named Stacy Moulder who is amazing. Treatment was pretty awful and it’s a total mind fuck. But I’m doing great and rocking my “can I speak to your manager” hair cut. It’s hard to get diagnosed young. I had already had kids (I was 40) - is your girlfriend looking into any type of fertility preservation? Wishing you all the best. Cancer is both a physical and a mental challenge. It isn’t “just” coping with the side effects of treatment. It’s also about doing things to help cope with the mental stress - small pleasures such as being in nature or whatever brings you joy. Many people I reckon struggle with being confronted with uncertainty. I personally hate it. I’d almost rather bad certain news than uncertainty. We live in denial about how uncertain life is. Then cancer shakes us out of this denial. Having a treatment plan in place gives us certainty for a while. Best wishes. You’re a good man. She just got the gene testing done and there was a very high chance of breast cancer (like 87% chance, I think she said) and had a 60% chance of ovarian cancer. She’s got a lot to think about from it. Thank you for sharing your story, it helps to hear she’s not alone in this. She’s the queen of dark humor and is determined to stay that way through this. She’s definitely cried a lot, but we’ve shared a lot of good laughs too. I’ve learned to be more specific with my questions after seeing her reaction to the “are you okay” lol. Thanks for sharing! I’m so glad you didn’t have to endure too much misery from that intense of a treatment. Hopefully it’s all in the past for you. I don’t think she’s going the cold cap route and just us accepted the inevitable. Thank for your support! I had a friend say to me recently “go be her rock, and we’ll be yours” and I cannot begin to explain how much it meant to me. I’ve done exactly that and I can tell she’s appreciated my consideration when talking about her diagnosis with others. She just went public with it on her social media with hopes that it’ll encourage others to stay vigilant with self checks or people to encourage them. Thank you for sharing!! Thank you so much! I keep reading every where the importance of the anti-nausea meds and I’m so thankful to hear they help (at least some of the time). [POST TITLE]: BREAST CANCER SURGERY IS OVER [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Cancer can go fuck itself 🙌🏻 beautiful winner. cheers to a long happy life full of love and happiness Yessss I needed this today! Congrats!! Happy for you stranger. I couldn't imagine what you went through. I hope you blossom and get to live however you wish! Have you made any grand plan for after your surgery? Or just trying to get into a routine where you feel good again? Hooray! Glad you’re feeling great and hope your recovery goes swimmingly! I have a nipple-sparing lumpectomy/reduction on the 21st and I’m terrified. I’m glad to hear your surgery went well- it’s reassuring! Just remember to take it easy and don't stretch too far. For mine it felt like sand in my chest for about a month until it healed back together a bit. I'm still a bit tender a year later. Make sure to take care of the drain too. If it stops up you can wind up with a fluid buildup pushing everything back apart, and a nasty infection. YOU WILL GET THROUGH THIS! I am two years in remission. I was lucky to be able to keep the boob. I had four chemo sessions, and 34 radiation sessions. Took a full year to feel human again and my hair is coming in strait. You got this girl! Fuck cancer. Keep us posted, k? Yay!!!💪🏻 I literally cut it out of my life lol Thanks ready to get back to a normal life I'm just trying to get back to normal. I am up and walking and keeping my independence under my parents roof. I refuse to be babied or ask for empathy. I want to be normal. Thanks I honestly feel no pain even as the drugs wear off. As for the drain it is working okay, aside from the occasional blood clot in the tube (I just squeeze it through into the balloon)... It's not draining all that much actually..... So I hope it's out in 4 days (1/5-8 days done lol) I should have mentioned I'm a guy lol. But thanks I get that. My dad said whether he beats his cancer or not, he can't wait for people to not have that look in their eyes with him and all he wants is for people to stop asking him if he's okay any time he moves a muscle. I experienced no pain after my lumpectomy, and was back sleeping on that side within a week, although I had no drain, so that helped. Good luck with your recovery. DOH! Yes!!!! This so much describes me I'm sorry to hear about your father. Hope he has a speedy recovery. Thanks, I hope to get my drain removed Monday. So I can go back to my apartment and not stay at my parents [POST TITLE]: I'M A PHD RESEARCHER / PRACTITIONER WHO DEVELOPED A SYSTEM TO HELP DIAGNOSE CELIAC DISEASE. ASK ME ANYTHING ABOUT DIAGNOSING CELIAC DISEASE. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Thank you for the AMA! My question is actually about the autoimmune diseases that I’ve read are associated with celiac disease. After a celiac diagnosis is established, is it worth testing for other autoimmune issues (thyroid issues, etc)? I wonder about this because sometimes it can be difficult to tell if I’m sick due to a recent gluten exposure, or I’m having ongoing issues from not “properly healing” yet, or something else is happening. I have heard from a US gastroenterologist that in Europe doctors' groups have decided to start diagnosing people with a sufficiently high tTG result without requiring an endoscopy but that in the United States, a similar decision is controversial and unlikely due potentially to political interests (for lack of a better word). In other words, the US healthcare system, with its economic incentives and balance of power between doctors, hospitals, and insurance companies make it less likely that an expensive procedure like the endoscopy will be omitted in any case. It's not clear to me how these interests may line up in such a way that a decision similar to the European one is less likely and what I've often heard is simply "this is controversial." Can you comment on this and help to clarify the thought processes involved in recommending an endoscopy for diagnosis? Are the atypical genes discovered in 2008, clear digestive symptoms, a separate microscopic colitis diagnosis, and family history enough for a diagnosis, without a positive test or a definitive endoscopy? (I react at the 15 ppm level and I’ve been gluten free for 20 years. I’m asking because I have to deal with patronizing doctors, at points.) I'm Celiac diagnosed in 2006. It took roughly 2.5 years from the onset of symptoms to get a diagnosis. Why were the various specialists (and primary physicians) not able to pick up on classic Celiac symptoms? Ie. Rapid weight loss (40 lbs in 6 months), phantom stabs of abdominal pain, cappuccino poops etc. I finally took myself to a Gastro that my clients used (I used to work as a medical counselor for the developmentally disabled) and within 15 mins of being in an exam room was told that I needed an endoscopy STAT and that I probably had (what I heard) Heliac Screws. Went home and googled that and started reading about Celiac. I knew almost immediately that this was my problem. I had the endo done and when I woke up the MD came over and told me that the results were going to take 2 weeks and to "just do everything normally ". Seeing as how I had flat villi and was almost at leaky gut syndrome, he knew that my life was going to change after diagnosis My question is this. Why the hell didn't anyone pick up on this? I had classic symptoms. Was told everything from "you have IBS, eat more fiber" (that was a lie) and "oh, you have ovarian cysts" etc. With the prevalence of the disease increasing, are med students even taught about this? Is there any path to a celiac diagnosis for those that want to remain gluten free? Doing a gluten challenge would be life disrupting and since a positive test wouldn’t result in any change from what I’m doing now, it doesn’t make sense for me to confirm Celiac that way. I just want to say thank you for the link. I think I finally understand IgA and IgG thanks to reading it. My IgA test was always negative but the IgG test was very high. Biopsy confirmed celiac. Took about two years for all of this. I was diagnosed "mid-life" after a lifetime of "IBS" and just mysterious aches, pains, and troubles. So much better GF! Life changing in a great way. Best of luck with your research and mission to educate doctors. APPLAUSE! If EMA is so specific to Celiac Disease, then why can’t a positive EMA and positive TTG diagnose a person with it without an endoscopy? The University of Chicago states on their website that it is almost assured a person has Celiac Disease with an elevated EMA value. Thanks! My wife and I are pregnant with our first child. Both of us are celiac (both with a parent with celiac as well). We plan to keep our kid gluten free from the beginning, due to our understanding of cumulative effects. We won’t be strict always, but what impact could this have in diagnosis/autoimmune health in general? We’re not super worried about nutrition, as we are planning to do breastfeeding and then introduce real foods slowly after 6-9 months. But should we be worried? I have a family history of celiac disease. I went completely gluten free and had noticeable health improvements. I had the genetic test and it came back negative, however if I even get cross contamination I get fatigued to the point of uselessness on the couch for two days. My symptoms take over 24hrs to manifest, but it is not worth cheating. So I have remained gf. Is the genetic test always correct? Or to phrase it another way. Am I celiac or just happen to have a different reaction to gluten/oats? I'm curious, how often do you see people presenting with atypical symptoms of celiac disease? How do you recommend when care practitioners should screen for celiac? Also, do you have any resources on celiac and its relationship to occurrences of SIBO? **Edit:** That’s all for me today. Thank you for all of your questions. I hope I managed to answer some of them for you, and if you and the moderators will have me, perhaps it makes sense for me to come back for another AMA sometime. If there are any other topics that this community is interested in, please also leave a comment for future AMA suggestions. Thank you all and I wish you all the very best of health! Slightly off topic, but could I ask you how you got to researching celiac disease? Im a student hoping to one day research it as well and am curious about where you research it, the path you took to get there, and maybe any advice? Thank you! My husband and I both have celiac but haven’t been able to test our oldest daughter because nobody has been able to draw blood. Is there an easier screening tool that would require a fingerprick instead of a huge blood draw for kids? So my blood tests came back negative, but they found pretty moderate villous blunting/atrophy and increased lymphocytes when they did my colonoscopy/endoscopy. They were like "hey you have celiac you need to eat gluten free now" any chance since my blood was negative that i don't actually have it? If someone has been gluten free for years but is only just starting to look for a definitive diagnosis, how long do they have to eat gluten for/are there any alternative ways to best search out a diagnosis? Edit** if they have already been tested and found to have HLADQ2 or D8 haplogroup Can I ask what the blood test actually shows? I was diagnosed with celiac when I was 15. I'm now 26 and when I see my gastro doc she always says how well I stick to a gluten free diet, my bloods are great. I'm pretty good at the diet but im not squeaky clean, and tbh I don't really notice when I eat gluten anyway. I'm really questioning if I actually have celiac or if the last 11 years have been a lie because my bloods shouldn't be great with what ive eaten. >I'm not able to share the full journal article Well here's the next best thing, the doctoral thesis of the OP from which the journal article is based. It'll have much more detail than the article anyways. PDF: https://rucore.libraries.rutgers.edu/rutgers-lib/56988/PDF/1/play/ DOI: https://doi.org/doi:10.7282/T39W0JT7 Congratulations on the article! :) Hi! Last year I had coeliac serology done as a routine screen alongside testing done related to my iron deficiency. It came back with very high levels indicating I needed to get an endoscopy to confirm for coeliac disease. I had the biopsy, which ended up being negative. My question therefore is this; what is causing the production of antibodies in my system if my villi/etc are healthy? Does it indicate a potential "leak" in my small intestine which hasn't fully developed yet into coeliac disease? I'd love to find out the pathophysiology of this, but haven't been able to find anything specific online. Another question I have is related to the genes associated with coeliac disease. Has there been any research done yet to see if there are different severities of coeliac associated with different genes? I.e. HLA DQ2 means you may have more severe coeliacs? I understand this would be fairly irrelevant once diagnosis had occurred due to the blanket treatment of a gluten free diet. But I'm curious nonetheless. Thank you! Question for you on my diagnosis. I had long running symptoms from the time I was in my early 20s until the day of diagnosis at age 38. I am 43 now. I was having abdominal pain. Diarrhea for over 10 year at 6-10x per day. I suddenly became completely lactose intolerant at age 37. I was sent to a GI who ran a ton of tests, the only positive results was a Ttg-IgA and ttg-IGG. My Ttg-IgA was 76.9 with a reference of < 14.9 being normal. My GI performed an endoscopy with biopsy. My biopsy was completely normal except for some mild inflammation in my stomach. He decided to run a genetic panel and that came back as High Risk DQ2.5. He put me on a 3 month trial GF diet and then retested my Celiac antibodies. They were now normal and he diagosed me with Celiac disease. I was sent for a bone density scan as a follow up test and I was found to have osteoporosis. After 5 years strictly gluten free my lactose intolerance went away a year ago and I am completely symptom free now. What is your opinion of my diagnosis of Celiac disease and would you find it credible without the positive biopsy? Thank you very much for what you do! I am glad there are researchers like you who have celiac disease. I am a scientist in a different field of biomedicine, so I know how much having a patient perspective matters. Often those without a direct lived experience (either as a patient or a caregiver) do not know what research questions are the most meaningful or do not understand why patients behave in a certain way. Especially with celiac disease, I see a lot of denialism about sensitivity thresholds and minimization of the debilitating nature of the symptoms (especially extra-intestinal) from many researchers. Good to have a credible patient voice in the room. My son was diagnosed with Type 1 diabetes 3 years ago. He was diagnosed with Celiac last year. What correlation between the two contributes to diagnoses? I've been diagnosed with celiac disease since 2013 (symptoms present for 20-ish years) and have seen my health wax and wane despite being on a strict gluten free diet ever since the original diagnosis. A second intestinal biopsy and colonoscopy in 2019 confirmed blunted villi continue and I honestly don't know what to do about that. Oddly, I've just discovered that I have tonsillar hypoplasia-i.e., my tonsils are either underdeveloped or undeveloped. My ENT doc can't see them and I have no scar tissue from a removal. My mother, my sister, and my own lack of memory reflects that I have not had them removed... They just aren't there. Could these be related? Or perhaps to another autoimmune condition? I may a bit little late on this but quick q for you. Last year when I got diagnosed, the guy who checked out my endoscopy told me that I can’t eat cross contamination. However, 6 months later my doctor told me that I can eat foods that cross contaminated because I am not allergic to gluten, rather I just have celiac. So, is that true? Thanks so much! This isn’t related to diagnosis but do you have any hope for a cure? Stem cells? Peptides? I went 20 years before being diagnosed with Celiac disease, it has had a huge impact on me, because of malnutrition etc from it when I grew up I have weak bones and it has just about destroyed my neck. It also has caused me to live with chronic stomach issues, fatigue, among other things I feel basically dead sometimes and unable to sleep, even if I do sleep I feel more tired than when I went to bed and sleeping meds don't work, I also suffer from several autoimmune disorders alongside my celiac it has made my life hell, I have a cousin with Celiac, my great grandmother had it and my mom might have had it. And it's unfortunate. It's really brutal. I hope that some day medicine can help people to live better lives with Celiac disease Hello sir , I'm a newly diagnosed person (24,M) with celiac sprue, I also have plummer Vinson syndrome and a history of seizures ,with multivitamin deficiency and iron deficiency anaemia, I'm also diagnosed with squamous cell carcinoma of oesophagus,(are these related) , I mean can I hope to improve as my ttg levels fall back to normal? Sir I'm also a med student and would like to continue on the same path as you, pls guide me. Keep up the good work sir, it's because of dedicated people like you , we are getting diagnosed and treated. Hi. I’m curious about elevated serum IGA, and negative tTg antibodies. My testing was done via the Mayo Clinic. I was off gluten when tested for about a month and I was tested by an allergist. Could elevated serum IGA be part of gluten intolerance instead of celiac? I stopped gluten bc I was hospitalized for diverticulitis and subsequently treated with antibiotics two more times in a 4 month period. Since I stopped eating gluten I am no longer bloated, no nausea, no headaches, no bowel urgency, less fatigue, less brain fog, and no diverticulitis requiring antibiotics. I feel like gluten causes an immune response but I don’t think I have celiac. I have Hashimoto’s and antiphospholipid antibody syndrome with infertility. What further testing should I pursue? Hi. Thanks for the AMA! I've been gluten intolerant for about 9 years and didn't get an official diagnosis due to how intense my symptoms were, but since have come to the conclusion that I am most likely celiac based on my symptoms (chronic constipation, gluten ataxia, poor dental enamel, the list goes on). Since I cannot eat gluten to receive the antibody blood test, what genetic testing company might you recommend for someone who is pretty sure they're celiac, but feels they need something else to bring to their doctor for an official diagnosis? Sadly no internist or neurologist will put celiac in my file without the normal testing, which at this point I am confident will cause nerve damage. Thanks! Oh, I didn't realize you were coming back. Hope I didn't step on your toes. Please feel free to update any answers I gave. Can you comment any new or original diagnostic methods that may be in development, such as new blood tests or other things? My son is five and we are pretty sure he has it even though his blood tests came negative. I'm hoping that some new diagnostic method will emerge in the next ten years that will allow us to spare him the gluten challenge. Very often! I was atypical and that’s one reason why I created my form of artificial intelligence to help practitioners make the connection. Have you ever encountered atypical diagnosis scenarios in your research? I have a family member who has negative blood tests and no villous blunting, but their scope did show increased intraepithelial lymphocytes. After going gluten free for 6 months, their IIL went back to normal. Their GI won’t give a formal diagnosis due to the negative serological/villi results and can only say the “probably” have CD. I’m curious about your thoughts on this! Thank you for you doing this! I was diagnosed celiac about 3 years ago. Fast forward to last April, I had a follow up biopsy and it confirmed I was pretty much healed. After the biopsy, my gastroenterologist said she pretty much only sees Celiacs when they are first diagnosed and healing. Since I was healed, she said I didn't need to schedule a follow-up appointment. Should I continue to see a Gastro? I assume I should get a blood test at least yearly. How often should I get a biopsy done? I haven't found a lot of information about what Celiacs should be asking their doctors while they are maintaining. It seems like the doctor community is split on whether a biopsy is required. My PCP and gastro doctors said I didn't need one because my blood test levels were over 100, and that nothing else would cause that result except celiac disease. Do you have any thoughts on this? Hi, I am curious what your opinion is on stool tests as a diagnostic tool. I know lots of organizations do not support their use due to lack of clinical evidence that they work. Why would antibodies be present in stool for any other reason? I used one of these tests from a functional med doctor and it showed a huge elevation of iga in my stool and my blood showed a presence of iga and other antibodies, just past the threshold for diagnosis. Cutting gluten had the greatest positive effect on my health and it seemed like a much easier test than blood or endoscopy. Thanks for your work and your time!! I have been abstaining from gluten for just under 2 weeks due to suspicion given my digestive issue (formerly and hastily diagnosed with ibs) last night I ended up having a single beer and woke up with heartburn and very visible swelling around the eyes. Is it possible this is a magnified symptom of gluten intolerance from less than 2 weeks of abstinence? Is there any use in suggesting screening for 1st degree relatives? Do they usually comply? I've found that most celiacs were never told to suggest this to family. Every DC should get a good info pack like Dr. Green's office mails out. Please do get tested for other autoimmune disease, because many of which are considered comorbidities of celiac disease. I wrote an article about this topic that covers some of the reasons why and a few of the diseases that are linked to celiac disease. Please give it a read if you have some time. You can find it here - [https://drrobertpastore.com/blog/2019-09-12-celiac-disease-high-risk-groups-related-disorders-and-comorbidities/](https://drrobertpastore.com/blog/2019-09-12-celiac-disease-high-risk-groups-related-disorders-and-comorbidities/) In this article you will notice I discuss the connection to multiple sclerosis and even autoimmune conditions of the thyroid. a report by one well known group The celiac disease foundation [celiac.org](https://celiac.org) is that 75% of those with celiac disease were exposed to (consumed) gluten in the past 6 months. This is part of the big problem as exposure causes symptoms. I have met many patients who where chronically exposed and repeat titers of the blood test that was part of their diagnostics helped identify that was the main issue for not feeling well. Of course other comorbidities can be the reason behind not feeling well too. But the exposure to gluten for celiac disease patients is a real issue. My cousin has celiac as well as thyroid issues Or vice verse. If you have other autoimmune diseases (like Hashimotos) should you also test for celiac ? Not OP, but you should not be getting gluten so often that you can't tell why you're sick. You body will be in a constant state of trying to cool system-wide inflammation. I was conclusively diagnosed without endoscopy in the US, so I’m also very curious about this. The European Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) has recommended a non-biopsy path to diagnosis in pediatric cases that meet specific serology guidelines, which include the presentation of classic symptoms, a TTG IgA > 10 times the ULN (upper level of normal), a positive EMA IgA and positive genetic testing (HLA-DQ2/8). There are potential risks to diagnosing celiac disease without a biopsy. TTG and EMA specificity has been based on populations with a high prevalence of celiac disease and not including a population of non-celiac counterparts. There is also a lack of transference of reference ranges for different TTG and EMA test kits processed at varying institutions and of standardization of TTG assays, making it challenging to identify or follow a single universal upper level of normal cutoff range for such a serious, life changing diagnosis. The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition(NASPGHAN) published a clinical report on gluten-related disorders and stated that due to the fact that a strict lifelong gluten free diet is inconvenient, costly and can negatively impact quality of life, it is critical to confirm a celiac disease diagnosis prior to such an undertaking, and therefore, recommend a biopsy as the only method for an accurate diagnosis. NASPGHAN also states that there is a risk of missing other diagnoses that may occur in concert with celiac disease if a biopsy is not performed, including Helicobacter pylori gastritis and small bowel cancer. In his book, Dr. Fasano a doctor in Boston who is from Italy, said he thinks endoscopies in children are unnecessarily dangerous. He has written a paper that he'd like to see dx based on a four out of five of the following: 1 Positive for celiac genes 2. Has celiac symptoms 3. Symptoms improve on a gluten-free diet 4. Positive for celiac antibodies 5. Positive endoscopic biospy. [https://www.ncbi.nlm.nih.gov/pubmed/20670718](https://www.ncbi.nlm.nih.gov/pubmed/20670718) I had the opposite effect in the U.S. - my insurance refused to pay for an endoscopy after blood tests came back positive, with insurance saying it was conclusive even though my doctor preferred to do an endoscopy. We're in the UK. 3 years ago my daughter was diagnosed when she was 16 months old. There was no endoscopy. Our lab says a TTG of 20 or more requires further investigation. Their chart stops at 4965. My daughter's first result was off the scale. We put her on a GF diet whilst awaiting the blood results and her symptoms immediately decreased significantly. We once accidentally gave her gluten and she reacted to it. Given the above, her age, and her gender, she did not require a biopsy. I was so relieved. She was incredibly poorly before she went on a GF diet and I was incredibly concerned by the prospect of reintroducing gluten into her diet for 6 weeks in order that they could do the endoscopy. I, for one, also agree with others saying that biopsy is not totally necessary 100% of the time. I was diagnosed at eight after having such severe malnutrition that my growth was stunted. I didn't lose weight so it wasn't taken seriously at first, but I was feeling ill any time I ate *anything* because my duodenal lining was so damaged. I had become deficient in a few important things (can't remember exactly what though) and I was very anaemic. All alarming things for a young child. Our family doctor said that my tTG was so high that I was diagnosed then and there. If I were to keep eating gluten to take a biopsy, it would have been a serious danger to my health and I could have gotten much sicker. Even decades later, I have idiots on the internet tell me I'm not a coeliac because I never had a biopsy. I think that my story about my diagnosis is important in us recognising that sometimes, more testing can put the patient at risk and actually do more damage. I was also diagnosed without getting scoped. This was primarily because I recovered so quickly after going GF. Did you have full, proper serological testing for the disease? If you had a total sIgA and Tissue transglutaminase IgA those results should lead to further testing depending on those values, and would hopefully provide a clear answer. I wrote an article on a proper path toward the serology part of celiac disease diagnostics. I hope this sheds some light on your case - [https://drrobertpastore.com/blog/2019-08-26-what-do-you-do-if-you-think-you-may-have-celiac-disease/](https://drrobertpastore.com/blog/2019-08-26-what-do-you-do-if-you-think-you-may-have-celiac-disease/) I can tell you if you are 100% negative across the board and the doctors did everything right, I would clearly consider you non-celiac gluten intolerant. My colleague Dr. Fassano put that on the map years ago and its real and I'm working with diagnostic labs to quickly identify those individuals. This story is one of the main reasons I do what I do. I have shared so many incredible stories of the undiagnosed and how they finally get diagnosed and it is tragic to say the least (I'm in the list of stories I tell btw). Sadly, what you are saying is too commonplace in medicine. I promise you I am working so hard at making a change. I can tell you I have helped hundreds of people finally get a diagnosis and I won't stop until I help as many as I can. If you had flattened villi, you probably did have leaky gut; it happens because celiacs have more zonulin than normal people, which pries open the tight junctions in the epithelial layer. You can't tell without a specific intestinal permeability (medical term for "leaky gut) test at peak illness how bad it was. The Mayo Clinic offers a path, but at the end of the day it does include a recommendation for a trial period of gluten and a serology test. You can find that here - [https://www.mayocliniclabs.com/it-mmfiles/Celiac\_Disease\_Gluten-Free\_Cascade.pdf](https://www.mayocliniclabs.com/it-mmfiles/Celiac_Disease_Gluten-Free_Cascade.pdf) Thank you so much for the kind words. I can't begin to tell you how you made my day. My mission in life is to eradicate what I call the decade to diagnosis (average time to diagnosis is 10 years, sadly, it took me 20) by educating physicians and continuing on developing diagnostic tools, and prevent and or ameliorate the suffering for those with this disease. Sadly, there are still false positives and negatives to EMA alone. It is also an expensive test and not standardized (like many of the tests and another reason why the US is not jumping on adopting a non-biopsy path to diagnosis just yet (its coming though...). I've used it as it is used in the Mayo Clinic protocols, particularly when you have a normal sIgA (or elevated) and a TTGA IgA of 4 to 10U/mL. It helps make excellent decisions toward diagnosis at that point. I had destroyed villi and microvilli on my biopsy many years ago and a negative EMA. Dr. Green at Columbia has been saying for decades that he believes any positive indication on EMA, with no lower threshold, should be considered positive. [https://www.amazon.com/Celiac-Disease-Newly-Revised-Updated-ebook/dp/B01CY3A8YS/ref=sr\_1\_1?keywords=Dr.+Green+columbia%2C+book+celiac&qid=1580757460&sr=8](https://www.amazon.com/Celiac-Disease-Newly-Revised-Updated-ebook/dp/B01CY3A8YS/ref=sr_1_1?keywords=Dr.+Green+columbia%2C+book+celiac&qid=1580757460&sr=8-1)[\-1](https://www.amazon.com/Celiac-Disease-Newly-Revised-Updated-ebook/dp/B01CY3A8YS/ref=sr_1_1?keywords=Dr.+Green+columbia%2C+book+celiac&qid=1580757460&sr=8-1) I love this question. I'm the father of a 2 year old and she has never consumed gluten, nor has my wife consumed gluten through the entire pregnancy. Newer research that came out proved I was on the right path and it was based on what I was seeing in my own work as a practitioner and research. Prevention of gluten exposure up to around age 5 if possible, in the at risk child can actually reduce the risk of developing the disease. If done the proper way the genetic test is highly reliable. There are some odd internet test kits that I have discovered were inaccurate once I ran the sample through a licensed laboratory. Please also note, and I can't stress this enough, non-celiac gluten intolerance is real and presents with very similar symptomatology. Unfortunately, HLA DQ 2 and DQ 8 aren't the only celiac genes. Do your other family members have positive gene tests? Perhaps if they could narrow down their genetic quotient, you'll have an easier path. This was below my comment from OP, want to make sure you see: > I have identified 50 potential genes in the academic environment. Right now the key is to stick with the FDA approved, licensed laboratory HLA series. The key is getting a diagnosis and being taken seriously by the medical establishment. VERY OFTEN. Atypical is the basis of my work in creating a form of artificial Inteligence to educate the practitioners that are the first line of defense for helping to identify risks for this disease and shorten the time to diagnosis. I was atypical. Also interested in this, particularly for celiac disease that develops later in life in adults. I did not have any (or, if I did, only mild) GI symptoms before diagnosis. That's a really hard question to ask, because people presenting with atypical symptoms are often never tested. I have always had a saying in my academic career and it is "when you have you know." I have celiac disease and experienced the unfortunate truth of this disease, namely the long delay to diagnosis, and the secondary symptoms and conditions that only resolved after finding the primary problem, celiac disease. That was the catalyst for me pursing my PhD covering all facets of biomedicine, and my MS in human nutrition prior. To be certain I understood this disease as 1) a patient, 2) a clinical nutritionist and 3) a biomedical researcher to hopefully help expedite others through the diagnostic process. Therefore, my path was science, math, nutrition and medicine, from undergrad to PhD. I needed to know this disease from all angles. If you want to be a researcher for celiac disease or any disease, make sure you have a premed level of education heading into grad school and pursue the PhD path in a form of medicine or medical information. That strong combination of skills will assist you greatly. I hope this helps! Sadly, at this moment in time there is no FDA approved finger prick test for pediatrics or adults for celiac disease. They have not been proven fully accurate and can lead to false assumptions both ways. I have first hand witnessed and experienced patients come in with negative finger prick tests that end up being true celiac and those with positive tests being negative for the disease. Science is progressing that direction though! So please have faith. Is there a more specific reason why no one can draw her blood? Did you run the genetic risk screen since you are both celiac using mouth swabs? There definitely are conditions that cause villous blunting/atrophy that are not celiac. Of course seropositive and seronegative celiac disease are the most common causes of enteropathy causing villous atrophy. Others include collagenous sprue, common variable immune deficiency, Crohn's disease, small intestine lymphoma, amyloidosis, eosinophilic enteritis and even medication induced (such as angiotensin receptor blocker induced. Hopefully you had some genetic testing done as a support for complete diagnostics and a rule out of some of the other aforementioned factors. Did you improve symptoms on a gluten free diet? Villous atrophy can present in cases of SIBO as well, have you looked into that at all? People respond differently to gluten exposure. One of my colleagues recommends 10 days of consumption equivalent to a slice a bread daily before testing serology. Others recommend 3 months or more! In one study, 3 months of gluten challenge, 70%–100% of pediatric celiac patients became positive for AGA-IgA and EMA-IgA antibodies and 50%–70% for AGA-IgG. There are seronegative celiac disease patients, and those that require different blood tests for diagnosis. The classic path begins with an sIgA and a specific test called a tissue transglutaminase IgA. Let's say that sIgA is abnormally low or below age ranges. That could render the test moot. It is so important to have the tests that we part of the diagnosis repeated, in addition to whatever the doctor desires to run now, or that has increased in its development as time has past and science has matured. My favorite point to bring up at lectures to my colleagues and I've done so here today, is the fact that I was EMA negative and had destroyed villi. I too am fascinated by the genetic component so I hope you don't mind I lead with that answer. Interestingly, celiac disease seems to be more common in individuals that are HLA-DQ2 positive than HLA-DQ8 positive counterparts. Please note that we are all biologically unique and it can take a different amount of time before there is visible Marsh category for the disease. With positive serology and a normal biopsy, I assume your Marsh score was zero (0). Its also important to note what serology was used too as a classic tissue transglutaminase IgA is strongly linked to villous atrophy and if not at the time of biopsy, if gluten is consumed, most likely in the future. For clarification on Marsh, back to biopsies, in Marsh stage 0 we see normal mucosa. At stage 1 there is an increased number of intra-epithelial lymphocytes and mucosal inflammation. Stage 2 presents with proliferation of the crypts of Lieberkuhn. Marsh stage 3 a-c presents with partial to complete villous atrophy. Iron deficiency in celiac disease is a major symptom I have seen not only in practice but in research settings. I'd be shocked if you were false positive serology. According to the Mayo Clinic on celiac disease diagnosis, your case would be referred to as high risk if you had iron deficiency, plus positive serology (again depending on the test run), with positive gene association and a negative biopsy. It is very difficult to be 100% accurate not being one of the doctors on your case, reviewing the actual case files, diagnostics, etc., but I will say your diagnosis is very European and I mean that with the utmost complement. Here in the US we approach celiac diagnostics with the gold standard being a biopsy in addition to having the reason for performing one (serology, genetics, symptomatology). Osteoporosis for a 43 year old is extremely common in the celiac disease community but not in the general population. One could argue a subset for osteopenia, but certainly not osteoporosis. That is a major risk factor for celiac disease as is the other symptoms you list. The bottom line for me, even coming from a major research environment, is the n of 1. If you have improved across the board, and even note an improvement in skeletal health, and all GI symptoms are ameliorated, I personally would not debate the diagnosis and I can tell you my pro biopsy colleagues would not either. Your TTGIGA was a very significant score. So, it makes one think, was there any error in the biopsy (probably not)?, could you go a few more years before damage was present? Well, in one massive dataset I studied the average age of positive biopsy diagnosis was 50 and older. Interesting nonetheless. I'm happy you are doing better now! Thank you for your kind words! Yes, interestingly, both type 1 diabetes and celiac disease are inherited complex diseases with strong genetic components, notably HLA. Overlap of genetic variants between these two diseases (including HLA and non-HLA) underscores common pathogenic mechanisms and likely explains increased prevalence of concomitant disease. When I left off in my study, there were 40 loci associated with type 1 diabetes and 39 of those present in celiac disease (loci in genetics is a fixed position of a gene marker location on a chromosome). All that is known is that there is a higher prevalence for CD in t1 patients and visa versa. [https://diabetes.diabetesjournals.org/content/68/Supplement\_1/1348-P.abstract](https://diabetes.diabetesjournals.org/content/68/Supplement_1/1348-P.abstract) One of the studies I am working on with major universities is for refractory celiac disease. I want to employ some of the technology used by Yale School of Medicine for IBS clinical trials toward food reactions in refractory celiac disease patients. Getting a test approved would be idea and remove any guess work identifying secondary foods that are troublemakers. Having said that, there are multiple autoimmune conditions directly linked to celiac disease. Linked meaning, they share a genetic position and manifestation (see my post above on type 1 diabetes and other causes of blunting include collagenous sprue, common variable immune deficiency, Crohn's disease, small intestine lymphoma, amyloidosis, eosinophilic enteritis and even medication induced (such as angiotensin receptor blocker induced). Request a look for other causes if you are 100% certain your diet is completely GF. I hope this helps! Nope. That is not accurate advice. Cross contamination in my world is the exposure and presence of gluten to/on a non-gluten food, making it a gluten contaminated food source. That is extremely harmful for a celiac disease patient. definitely. I'm working closely with celiac disease organizations. We are gathering data and working on funding for some key targets. It will be a multifactorial process and treatment in my opinion. But it is coming. There is an interesting path for non-gluten consuming individuals that may be celiac. I highly recommend starting with getting your celiac-associated HLA-DQ typing (a DNA test). This is critical in your case. Because if its positive or equivocal for DQ2 or DQ8 and gluten has been out of your diet for a period of 1 year or less, and or you are not 100% certain that you have not consumed gluten when dining out, etc., without your knowledge during that same time frame, you can still produce some positive result to the following - blood tests: immunoglobulin A, tissue transglutaminase IgA and IgG, and Gliadin deaminated antibodies IgG and IgA. Any positive result on any of these tests are consistent with celiac disease and at least would get your doctor to listen and have the discussion if the lab values are enough to warrant a biopsy. However, of your genetic testing is negative we know celiac disease is very unlikely and no celiac disease testing is needed going forward. It takes 6 months to 12 months for titers to whatever serology played a role in the diagnosis of celiac disease to start to come down to normal ranges. There are spikes in serology when a celiac is exposed, even inadvertently. I'm hoping this path above gets you to an answer quickly. If possible, I love the Mayo Clinic lab. ​ Try Enterolab, Ken Fine has been doing great worth in celiac disease. [https://www.enterolab.com/](https://www.enterolab.com/) There are some very exciting developments in the works that include less invasive testing. Please have hope and at the minimum request a cheek swab genetic test for your son. >intraepithelial lymphocytes A spectrum of pathological abnormalities may be present in the celiac disease patient such as intraepithelial lymphosis without or with associated glandular hyperplasia and possibly completely normal villous architecture. This state can present asymptomatically or with peculiar symptoms, confusing the patient and physician. Please share this paper with your family member. [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037512/pdf/nutrients-08-00525.pdf](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037512/pdf/nutrients-08-00525.pdf) I hope this helps! I know you are at 3 years post diagnosis, but please allow me to start at the beginning and then tie in your answer. I refer to the follow up processes for celiac disease as the 3 or 6 and 12 rule. Around 3 to 6 months after your diagnosis (and I prefer 3 months, but there is one test that actually requires 6 months to becoming negative on a strict GF diet, I’ll explain in a moment) see your physician for a follow up appointment. Ask what was your path to diagnosis? Were you IgA deficient and then had a subsequent “alternative” path to serology that led you to a biopsy, and that biopsy was positive? If that’s the case, your doctor should be monitoring your sIgA level and make sure that is normal or at the very least, normalizing. Next, the doctor needs to check you for the traditional TTGIgA AND the blood test that led to the biopsy. That needs to be monitored at each check up with your physician. Why? It is crucial to determine if a) your immune system is normalizing and if b) you are still producing antibodies to gluten. At anti-tissue transglutaminase IgA typically is negative around 6 months after diagnosis. So, do not be discouraged if you see your doctor earlier as I recommend and only see a downward trend of this marker. That’s ok. Any abnormal blood tests, or diagnostic test should be monitored as per the individual tests. For example, if an abnormal DEXA scan revealed early onset osteoporosis (a symptom of celiac disease) should be repeated in due course. Any deficiencies identified should be checked and become part of the routine follow up. This is extremely important because celiac disease has one treatment and that treatment is a militant gluten free diet. Gluten exposure is a common problem for people with celiac disease and such exposure exacerbates anything and everything – from the original symptoms and deficiency states that led to your diagnosis, to new problems. So, it is our job to be health care advocates for ourselves and make sure we are being followed up appropriately. At 12 months post diagnosis you should have another follow up with your doctor and again -measure anti-TTg IGA and any other prior abnormal serology and standard serology. At this point it would be wise to have an additional blood test that checks for hepatitis B titers, to see if the vaccination response is present for those that are vaccinated. In multiple clinical studies, researchers tested known celiac patients who had been vaccinated for hepatitis B, and found that the rate of non-response was significantly higher in the celiac patients when compared to controls. It seems that only patients with active and untreated celiac disease are at risk for not responding to the hepatitis B vaccine. This is where you come in. I highly advise starting with my 12 month advice above for your 3 year follow up asap. Of course it is essential for the diagnosed celiac disease patient to have routine follow ups with a nutrition professional who is knowledgeable in celiac disease such as a Certified Nutrition Specialist (CNS) or RD to discuss diet. It may also be necessary to have psychological support. I hope this helps you! I do. Please kindly note I am cutting and pasting a reply I gave above to a similar question to answer yours (and prevent you from scrolling :) The European Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) has recommended a non-biopsy path to diagnosis in pediatric cases that meet specific serology guidelines, which include the presentation of classic symptoms, a TTG IgA > 10 times the ULN (upper level of normal), a positive EMA IgA and positive genetic testing (HLA-DQ2/8). There are potential risks to diagnosing celiac disease without a biopsy. TTG and EMA specificity has been based on populations with a high prevalence of celiac disease and not including a population of non-celiac counterparts. There is also a lack of transference of reference ranges for different TTG and EMA test kits processed at varying institutions and of standardization of TTG assays, making it challenging to identify or follow a single universal upper level of normal cutoff range for such a serious, life changing diagnosis. The North American Society for Pediatric Gastroenterology, Hepatology and Nutrition(NASPGHAN) published a clinical report on gluten-related disorders and stated that due to the fact that a strict lifelong gluten free diet is inconvenient, costly and can negatively impact quality of life, it is critical to confirm a celiac disease diagnosis prior to such an undertaking, and therefore, recommend a biopsy as the only method for an accurate diagnosis. NASPGHAN also states that there is a risk of missing other diagnoses that may occur in concert with celiac disease if a biopsy is not performed, including Helicobacter pylori gastritis and small bowel cancer. Adding to that post since you asked my opinion, I welcome and desire a set standardization for the aforementioned serology, so we can eliminate the biopsy process, particularly in pediatric cases, here in the US. I hope this helps! If the circumstance arises that your healthcare practitioner recommends saliva testing or stool analysis to “test for celiac disease” please note these tests are not accepted by the American College of Gastroenterology for the diagnosis of celiac disease at this time. Research into saliva tests for pediatrics are underway and such tests will receive rigorous scientific evaluation for their efficacy and FDA approval. The accuracy of stool tests for tissue transglutaminase antibodies is as low as 10%. I'm thrilled you had a positive response, but on my end I see many false positives that take people down the wrong path for years. Again, I'm thrilled you are well and happy it worked out for you. How about gluten ataxia. And psychological symptoms. Should someone with celiac or another gluten intolerant manifestation have mri’s done? And here’s another: what about the relation between tgondi and increased immune response specific to the exact same T cells that pursue gluten contaminant in the blood ? Isn’t it worrying? (based on study’s done on the German population showing increasingly likely exposure to tgondi the longer a person lives.) Like. Why do cats and the farming industry get to dictate human life so hard core. It’s really weird. And kinda gross. How is an industry standard taking presidence of a the basic human right to not be poisoned by the environment. Why does it take months to schedule a dermatologist appointment to receive the dapsone medication that is essential to a recovering dh patient. It’s insufferable. There is no associated disability available for this crippling condition. there are so few voices even able to speak on the matter from the recipients perspective. A person burns from contamination without treatment. The treatment is held aloft and is expensive. the whole while the individual suffers tremendously. How can I bring dermatitis herpetiformis to a platform that appreciates human rights. Instead of being stuck in the gluten dust of malpractice? Any disease that you have along with celiac disease is comorbid to celiac disease. It doesn't mean there is a causal link. For kids diagnosed with type one diabetes it's becoming more and more common to run a blood screen for other autoimmune disorders, like celiac. That's how my son was diagnosed! If the screens for other issues are negative they then screen for them yearly. Only 3% of Hashimoto's patients has celiac disease; mind you that's 3x the prevalence of the general population. If you have symptoms of Hashi's, get checked out with a full panel. Without symptoms you'll likely only get a TSH test which is modestly predictive. definitely. no question. You’re right, I should not be getting sick this often, but I am, and it looks like I’m not alone. I was completely blindsided by my diagnosis and had no idea that it was gluten making me sick. I felt terrible all of the time and so there was no obvious connection to any triggers. Yup. Great. How about dropping the judgement there bud and acknowledging that this shit is hard, humans are not always rational, and life is complicated? I was as well, but I already had a sibling diagnosed so my doctor felt comfortable given the genetic link, my symptoms, and my blood work. same, my numbers broke the scale was what the gastro specialist said. well that's terrifying, especially since I didn't get a scope because my numbers broke the scale. The specialist had never seen them so high. But after six years, I still randomly get sick and feel exhausted. I wonder how I can go about getting one and if they'll give me to eat gluten again :/ For the group: we should put this in the sidebar for anytime someone asks why their doctor is requiring an endoscopy. It's a pretty good treatment of the reasoning typically involved, I think. Whoa. Celiac is found with h pylori gastritis? That sounds horrific. Glad you got a diagnosis and you have some knowledge to build on. No testing, at all. I had no money, and no insurance. I was so grey that people were telling me to go to the hospital; the small amount of testing I could pay for out of pocket showed elevated liver and kidney enzymes, and severe anemia. I weighed 95 lbs. I’m 5’4”. I went to an ER doc with a private sliding scale practice and said, “I think I have this.” I went gluten free and gained 30 lbs in a month. He agreed. (I’ve never had a gastroenterologist disagree with the celiac diagnosis. Just primary care doctors who seem to think it’s a fad.) Why would you say gluten intolerance, if I have the atypical celiac genes? I hope you know that (from what I can tell) those of us who are Celiac really and truly appreciate everyone researching this disease and possible alternative treatments. No one asks for this diagnosis and I can't even imagine having this as a child. One thing that I've wondered since my diagnosis is where it came from. No one on either side of the family is known to have Celiac. I was sick a lot as a kid with everything from chicken pox and shingles by 3rd grade, itis of everything from the sinuses to the urinary tract, infectious mono twice, a bout of lymphedema, lumbar spine issues, kidney infections, treacheaitis you name it. Enough so that by age 13 I was wondering if somehow I had a problem with my immune system. My reasoning was that I was sick all the time but had never had a blood transfusion, never used IV drugs, had never had sex Since there is no know genetic link on either side (and yes, both of my parents are definitely mine) where would I come out with a genetic autoimmune disorder? Was this passed down from a grandparent or great grandparent? Genetically speaking there are 5 other people on this planet who I know are living relatives (both parents, sister, one aunt, one uncle). If they don't have it, how do I? I've never understood that. If I could ask you one more thing, I'd really appreciate your insight on. There are individuals who claim there is a link between the rise in dignosis of Celiac and the use of a certain herbacide. Do you think that there is any merit for investigating that train of thought? Or is it possible that the rise in the diagnosed Celiac population is due to the medical community being better informed about the disease and it's numerous different presentations? I apologize for asking extra questions. These are just thoughts that I've had since diagnosis that I've never gotten an answer to. Again, thank you for taking time to do this AMA and for researching what is a life altering disease for patients. So leaky gut is real? I remember reading about it 15-20 years ago. It kind of bubbled up from some autism stuff (I think autistic kids do have above average GI problems although it seems like there could be a lot of reasons--stressed out kids have GI problems and being an autistic child is very stressful!). When my GERD and GI problems got really bad I started thinking maybe this is what I've got. I was always in pain after eating and had really bad adult acne. But mainstream sources always said leaky gut was bullshit and woo. The HLA tests are pretty worthless for determining if you **do** have Celiac, so I’ll take that as a “no” Oh I am so glad! I actually had one gastro doc (who who was asst. chief and also taught at the med school) tell me I presented classic celiac but "didn't have it." He never ran a test. I asked why and he repeated that I didn't have it. I think he though I was too old maybe? Anyway, all the blessings on your journey. Thank you for the explanation and for your research!!! Much appreciated! I know Peter well. Nice guy. He's a big fan of moving the needle toward a biopsy free diagnosis, but understands the importance of following the gold standard at this time. Here is a 2014 interview with Peter from Advances in Endoscpy - [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566195/pdf/GH-10-522.pdf](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566195/pdf/GH-10-522.pdf) Of course everything is a case by case basis. These are general recommendations. Are there any links to this? I have a two year old that we have kept gluten free thus far, as my (limited understanding of) research implied all introducing gluten early did was have an earlier diagnosis. I found it hard to consider introducing gluten young with breastfeeding as vowels weren’t firm/consistent. Now that he’s weaned and pretty regular I would consider it, as we know his patterns, but if there’s benefits in waiting I am all for that. Luckily his ped is easy going about all this. I've heard that babies can be genetically tested at birth to check for celiac gene markers. My husband and I are planning to have a baby in the next couple of years, and I'd love to know right away if the kid is likely to develop celiac or not. My husband doesn't have it, but his grandmother does, so it seems like a distinct possibility for any child of ours to have it. Do you know anything about that? Is it worth doing? I have identified 50 potential genes in the academic environment. Right now the key is to stick with the FDA approved, licensed laboratory HLA series. The key is getting a diagnosis and being taken seriously by the medical establishment. I think that tells me what I want to know. My sister is diagnosed, my mother is not. But we all act like we are. Ironically my sister is the least sensitive. I got sent from my small town doctor to a gi specialist to humor me. He did the genetic test and said don't worry about it. I don't have any gi symptoms. I just get terrible fatigue, muscle cramps, and feel extremely cold. So he figured no gi symptoms = not celiac and he wouldn't do any further tests. My response is: I don't care if it's all in my head if it makes me feel better... But I don't think it's all in my head. regarding SIBO - [https://www.ncbi.nlm.nih.gov/pubmed/12738465](https://www.ncbi.nlm.nih.gov/pubmed/12738465) The average age of diagnosis is 50 years old. Same. I was experiencing low vitamin D levels, was borderline anemic, experienced an intermittent elevated heart rate for no reason, and was nauseous and tired for like a year, but no GI "output" issues whatsoever. I had lab work done with a positive tissue transglutaminase IgA result, negative Gliadin (deaminated) antibody IgA and Endomysial antibodies IgA, and am positive for the DQ8B1 genetic marker. My intestinal biopsy was negative, but from what I could understand from the report there were too few samples taken to be definitive. I have had a good response to a gluten-free diet, so my (new) GI considers it a positive diagnosis for celiac disease. As I mentioned above its the basis of my work and why I work so hard at educating medical professionals. We need to make the atypical, typical. Anytime someone has tried to give her an IV or take blood at her elbow veins they have repeatedly jabbed her looking for veins there and given up after about 30 minutes, at an ER and multiple doctor’s offices. They always tell me to “have her drink more water next time” but she drinks lots of water so I don’t know why they can’t find a vein. Yep. I was pretty malnourished before and had loads of stomach/other issues. I was like 90 lbs no matter how much i ate. I was definitely more complicated of a case to say the least, but yes, many major symptoms stopped within 6 months of a gluten free diet. It was my journey into the realm of secondary immune reactions to food that completed my case. I haven't consumed dairy in any form in 30 years. That was based on multiple tests - classic IgE, scratch test, etc. yes. and SIBO is high risk for celiac disease patients at the time of diagnosis. Thank you for your response. My serology results showed tissue transglutaminase IgA as 187 U/mL, my only non-elevated result was deaminated gliadin IgG (deaminated gliadin IgA, TTG IgG were also elevated). And positive for HLA-DQ2. As it was determined I have latent coeliac disease I have assumed that I should probably get my serology retested in another 6 months or so, with a second biopsy pending those results. However due to special circumstances I was unable to get a clear answer out of my GI to determine what I should actually do to follow up. Any advice if you were able to give some? How long may latent coeliac disease take to increase a Marsh score? Thank you for the detailed response. My osteoporosis diagnosis was the year after my Celiac diagnosis, so at age 39 and I am male. 2 years after that I had a repeat bone density scan and my density had improved 5%, though still in the osteoporosis range. My GI told me that damage is patchy and suspected it had been missed in the biopsy. I feel great now though and all my digestive and other symptoms are gone. That’s so exciting. There’s some one off results in PubMed of people who had stem cells for cancer treatments or something similar and their Celiac reversed. It’s exciting me. Thank you so much for this Dr. P! I will absolutely go down this path. Whatever the answer, I will be glad to have this information available for my doctors. question on dna testing, most insurance call it experimental so they won't cover it. I've had two insurances tell me this. Is there any way around this besides being your doc to get you a note? thanks Thanks! Thanks. Thanks for doing this ama also. Thank you! Thanks for the response! That's shocking how low the accuracy is 😵 I'm only referring to direct links... exactly! Some subgroups of celiacs are at a bit higher of a risk too; those with DH are more likely to get HT, as is anyone with a family history of HT. The longer you went undiagnosed (eating gluten), the higher your risk of developing additional AI diseases as well. I have Hashimoto's Thryoiditis (diagnosed 24 years ago) and Celiac disease (diagnosed 10 years ago). I was also diagnosed with colon cancer (2 years ago) though I have no idea if it could be related. It's very interesting to me to read about the diseases that can go along with celiac disease. Celiac disease runs very strong on my mothers side, and we have many people on that side of the family with type 1 diabetes, type 2 diabetes, hashimoto's disease, graves disease, colon issues (IBS/IBD,etc) and MS. I keep urging the ones that are still alive to go get tested for celiac disease but it surprises me how resistant people are to being tested. They would rather not know. The only thing I can guess is that they don't want to have to give up gluten (it's not a walk in the park, that's for sure, it's more like a walk through landmines). Same! Had never heard of it in 2002. It's not judgment, it's concern. I know how hard it is, especially at first. But this shit is also serious. Ask for help and support if you can. The complications of picking up yet another shitty autoimmune disease can make things way worse than they are. Thank you. The silver lining was a prompt diagnosis given the severity of her symptoms. I'm definitely not making a diagnosis here. We need to be clear having the genes does not mean one has celiac. One dataset reported over 30% of the non-celiac disease population has the genes but not the disease. Gluten intolerance can definitely cause severe symptoms. Of course you could have celiac disease. Its difficult without the proper diagnostics. I work so hard in this area to improve diagnostics. So sorry to hear about your struggle. > Why would you say gluten intolerance, if I have the atypical celiac genes? Not OP, but the fact that you have the genes isn't really a factor. They aren't really diagnostically relevant because the vast majority of people with the genes never develop celiac disease. It started out woo, actually. But medical science proved it and adopted it as intestinal permeability. That doesn't mean all the theoretical woo bullshit is real, though. Eating wheat for non -celiacs and people who don't have gluten sensitivity probably isn't going to hurt anyone, which was a big unproven woo angle. They keep relating the gluten-free diet to intestinal healing based on pure nonsense. This is important, thanks for posting this. Everyone seeking dx should make sure their doctor is getting 4-6 biopsies; the paper notes a larger number of positives by using this method. Back when I was dxed in 2002, some were calling for 9 biopsies. To iterate: Dr. Green is saying to get the official dx by today's standards when possible despite discussion of biopsy free dx. What would you do, if you could enact change yourself, to bring up the rate of dx? Which at groups would you screen? My dad and one sibling have hla b27 which causes Ankylosing spondylitis. My mom also has Crohns, my sister had Lymphocytic Colitis and I have Celiac. So that's fun. Thank for the important work you do. I'm copying this for the person above. I think the person above is worried about lab error and/or test sensitivity. If you're cold, you should get a full panel thyroid test. Full panel because you have three major thyroid symptoms. Re: cramps: think MS and Sjogren's syndrome. These are all autoimmune diseases, which you now know you have in your family. Once AI disease is in your family history, it's important to look at AI causes for your symptoms. Do you ever have dry mouth or eyes? And don't blame it all on weed and drinking; that was my mistake and it delayed my Sjogren's diagnosis for decades. Thanks for the link! My son's GI is in a hospital and they have a specific kid's department/area/unit for working with children for x-rays, blood draws, etc. My son once had a bad stick and really, really hates blood draws. Since then they have used this vein finder gadget that helps them find the vein so the actual stick is on point. Have they tried anything like that with your daughter? There are 13 things I can eat without taking Claritin every day. Which I do because I have mast cell activation syndrome w/ histamine intolerance. Does SIBO self resolve over time? That is a significant TTGIGA score. Latent celiac disease is a real problem for diagnosticians and fodder to consider to adopt the European model for diagnosis in such cases (which I discuss throughout this AMA is a non-biopsy path based on factors that you seem to have). In true latent celiac disease it can take many years for Marsh stage 3 c to develop. In cases like yours with such a significant serology, the genetics and the first biopsy with an opinion of latent celiac disease, you may find this article an interesting read - [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2000254/pdf/1339.pdf](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2000254/pdf/1339.pdf) As for follow up, I'm assuming your GI doc would like to keep you on gluten, retest serology and re-biopsy. Because it would not be possible to see Marsh of clinical significance without gluten in your diet. Not knowing the full history, the challenge is status of your health, what major symptoms were/are present, the pros and cons of remaining on gluten to obtain the gold standard diagnosis here in the states. If that is the goal, then you would be on the correct path by consuming gluten and repeating the exact serology you had done, followed by a biopsy. Great to hear that you are so much better! It can take up to 5 years for an intestine to fully heal after celiac disease diagnosis and I always see lingering nutrient deficiencies staying around if they are not caught and properly treated. my pleasure! okay how do you feel about riovirus upregulating zonulin production thereby increasing gut permability allowing macro molecules into the bloodstream. as this is a direct link i expect a direct response. Thanks. I started this process now. 1. Educate those about the many facets of the disease, discussing every comorbidity, symptom, atypical presentation, etc., and make that the norm. I’m doing this via CDSS and artificial intelligence with a goal of integration into EHR systems. 2. Same process as above but targeting diagnostics. To date my small efforts have resulted in hundreds of new diagnoses. Oldest being 78. No to the dry eyes/mouth. I've never smoked weed or cigarettes and I never have more than a single drink. Good point. This is how I was trained during my tenure in internal medicine. We had a pediatric specialist for cases like this. Nope, it's kind of weird nobody has suggested anything like that. I'll look for a place that does that next time we try to screen her if she continues eating gluten at school (we don't have it at home). How do you get diagnosed with mast cell activation syndrome? I've only ever been dx'd with "allergic rhinitis" even though I had fluid building up in my lungs and felt like I couldn't breathe (I was tested twice at that time for asthma and I don't have it). I have to take some sort of anti allergy pill daily or I can't function. I was taking singulair daily but now I'm taking levoceterizine. I wish I understood what the fuck is going on with me. Also I'm allergic to a variety of molds, which is fun, because I can't actually completely avoid exposure. That was a very interesting article, thank you for sharing it and your thoughts. I will be continuing on the gluten diet for now unless told otherwise. Thankfully I don't believe I have many debilitating symptoms. Just iron deficiency anaemia, occasional brain fogginess and other intermittent typical symptoms. Definitely something I can live with for the next few years if necessary. I'll be watching this space to see if there's any new developments in diagnosis. That is fucking awesome. I have tears in my eyes thinking of all the relief you have manifested and the futures you have returned. Some of us have that gene that makes us process alcohol really slowly. I also only have one drink because two damned near knocks me down. So, cheap date, I'm ok with that. Good luck! I wish her the best of health! Mast cell issues are not yet well known among medicos. But, I have a crazy GI doc who is always publishing papers on stuff that starts out fringey, like celiac disease, SIBO, fecal transplants. He is the only non-allergist in my medium-sized city who investigates this. He believes it's very common. Some allergists are on top of this too, but that specialty thinks it's not mast cell unless anaphylaxis is involved. Dr. Weinstock doesn't believe that. That leaves out a lot of people who greatly benefit from treatment. so far, I'm treating with Claritin and Prilosec but am adding more things one at a time. I can eat a lot of stuff on Claritin than before, so that's a huge relief. My dizziness and constant nausea is 99% better, tho'. If you are near a fairly large city, do a Google Scholar search to see if anyone from a teaching hospital is working on it. [POST TITLE]: I’VE GOT TRIGLYCERIDES IN THE 1000’S.... [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Ok, my triglycerides are over 1000. I’m almost 60, have always worked out, I’m overweight but not obese, eat pretty healthy, don’t smoke, rarely drink....it’s genetics. They have bee high since I was a skinny 20 year old vegetarian, the last doc told me that they really see triglycerides as a warning sign...your bp, sugar or other metric (e.g. metabolic syndrome) tends to flare if triglycerides are high. But all alone as the sole bad metric? They aren’t quite sure what that means. I have read that if they get too high pancreatitis can develop....But again I’ve had high triglycerides for 40 years and no symptoms yet. I am now taking a Statin. That tends to lower them to three or 400 range. It’s concerning to hear the docs say...basically...your doing everything right, so we don’t really know. My lifesaver has been All these health trackers. For years I felt the docs didn’t believe me. When I pulled out my phone and showed the doc the months and months of workouts… She was floored. She got my labs with the thousand level triglycerides before meeting me. She said she expected to meet someone about 400 pounds. I recently tore my rotator cuff so I had to see a doctor again… The good thing is both of them have said to me keep doing what you’re doing. So, I would say same to you. It’s a good wake up call to consider all your health, and do better.If you’re really concerned I would look into an academic medical center that specializes in triglycerides. Let us know what you find out! Best of health, What have your doctors said when you have previously had these triglyceride tests? It seems to me that having triglycerides of 3000 would cause a doctor to take drastic action. You already have what appears to be a pretty dialed in lifestyle. I do not know your bodyfat percentage, but I would imagine at 6ft tall and 223 pounds, you are either very very muscular or have a few pounds of bodyfat you could stand to lose. i doubt that would make much a difference if any, but it's really the only lifestyle factor I can think of. With your young age, great lifestyle, and very high triglycerides, something is definitely unusual. It could be an isolated issue like some genetic tendency, or it could be some other factor like thyroid function. [https://www.mayoclinic.org/diseases-conditions/high-blood-cholesterol/in-depth/triglycerides/art-20048186](https://www.mayoclinic.org/diseases-conditions/high-blood-cholesterol/in-depth/triglycerides/art-20048186) This is a pretty good summation on Triglycerides, but some things are just genetic. FWIW I do crossfit 5x a week and try to get cardio in 3x on top of that. It wasn't until I adopted Harvard Medical's Healthy Plate diet that my numbers started looking better, I think I was low on fiber and possibly high on a few other things before that. Magic? alcohol ? What do your parents labs look like? Genetics. I was fit and healthy, and my triglycerides were very high at 15 (UK measurement system). There are two genes ( as far as I understand) that control your bodies ability to break triglycerides down. I had a mutation on one of the genes, so pretty bad. If you have a mutation on both, it can be very bad. Fiber was it for me too. I added a lot and supplemented at the same time with psyllium husk. Fruits and veggies and even oatmeal I think made the biggest difference. I think so yes, but also that too much of any one thing can cause issues over time so a variety of protein is best. Venison is not studied like beef is, so I don’t think the recommendations or warnings are all that applicable. It has been eaten for a long time so I wouldn’t be that concerned about it. If you change the normal stuff and don’t see a difference you could then try swapping venison, but if you do multiple changes you wont know which worked. You could cook it in EVOO if you don’t Yeah my BP is kinda borderline and my A1C is considered in the “prediabetic” range. Thyroid is all ok. I’m about 17% body fat. Too heavy but not “obese.” Wear a 32 or 33 “ waist pants. Looking at the healthy plate, I don’t eat enough fruit or veggies. I think most of us could say that. I know it says limit red meat, is that because of the fat in it? We eat lots of venison that we kill in the fall. Very lean, probably more so than chicken. Few drinks on the weekends. Dads are a bit high but not crazy. Yeah when we use oil, we use EVOO. I mostly grill it though. Yea your bp shouldn’t be borderline if you are working out 4-5 days a week. Are you doing cardio? How much salt is in your diet? How much stress do you have? In my opinion stress is the real nemesis… That drives up everything. I dropped my triglycerides 100 points last month doing dry January. It's worth a shot. What does your diet consist of? Even if its pretty healthy maybe its time to up your fiber and lower net carbs? We do Crossfit style workouts which most have a cardio aspect to them. And I do some long monostructural type stuff like running and rowing etc. running a 1/2 marathon this weekend. Have a 5k this morning. As far as salt, I don’t add salt to anything. A little while cooking but nothing crazy. And we try not to eat processed foods. We eat out maybe one every 2 weeks so not a lot of salt from fast food. I think a lot of the BP is genetics as well. Yeah that would probably help a little for the triglycerides. Side note: My HDL was all out of whack too so I was reading yesterday and multiple sources said that “moderate” alcohol consumption was known to help HDL. Carbs are already pretty low. I’m not tracking right now. I have done a fiber supplement in the past. Should bring it back. Lean meats and veggies mostly. "moderate" is defined as 2 drinks a day for men, and from what I gather, they're referring to beer like bud light, if that's your thing. I was l only drinking on the weekends, but high abv craft beer. Fwiw, my hdl was 34 before dry January and it dropped to 31 after. Hmmm maybe you could start tracking so you can see if theres anything you are missing or didn’t realize you were overdoing. Sometimes tracking can help you hack your body better but its also miserable! A fiber supplement is a great idea though. Were you taking one when your triglycerides initially dropped? That’s the wrong way for it to go. Should be above 40. I’ll have a craft beer on occasion but most of the time if I’m gonna have one, it’s a michelob ultra aka beer flavored water. I was trying to think today and I can’t remember. It was last summer when they were the lowest they’ve been since I was 17. I’ve tracked and seen a nutritionist just to make sure there wasn’t something I was missing. It can’t be diet related. I’m a (former) nurse and now work in healthcare admin. I see lots of people with terrible diets and zero exercise habits that have numbers way better than mine. I’m thinking the next step may be some genetic testing or something. I'm aware of that. Alcohol raises HDL, so it's possible it dropped a bit when I stopped drinking, or some other factor lowered it at the time I went in for testing. The numbers are probably in flux at all times by some measure of deviation. You're just getting a snapshot in time when you get your blood drawn. Current nurse here! I see the same thing in my colleagues and peers. I’m not the healthiest person (def have some things I could improve on) but I’m 24 and relatively active w decent diet and have patients, coworkers and friends who eat poorly, never workout, or are much older and have perfect lipid panels! Drives me crazy. Def look into genetic testing. Maybe even get your thyroid checked? Or even cortisol tested? From what I’ve learned and been told by the Good Doctor, it takes 3 months to make a meaningful difference when making changes like diet or adding a medication such as a statin. I’ve had my TG drawn like 10 days apart with almost 1000 points difference. There’s a lot there that I don’t understand. It’s frustrating. I’ve done the cortisol and thyroid and it’s always normal. I don’t like playing the “but look at their diet” game cause I know I could improve. But, that being said, LOOK AT THEIR DIET! Lol. I’m not even asking for perfect, just somewhere close to normal would be cool. I don’t think I could live with numbers like this for a long time... oh, also, never had pancreatitis. I agree. While diet is important... so are genetics. Some peoples blueprints seem to be just fine w subpar conditions. My grandparents all have high blood pressure (well controlled) but are otherwise incredibly healthy in their lates 80s STILL eating legit JUNK FOOD (we are talking frozen pizzas, take out, McDonalds, Entenmanns powdered donuts *face palm). But my dad and I both have high cholesterol despite all the healthy choices we try to make! Good that your thyroid and cortisol are normal but also somewhat of a bummer as it leaves you no closer to an answer. Could you see a cholesterol specialist? Do they even have those? Yeah. I think there are 6 lipid specialist or some big fancy name, in Oklahoma. [POST TITLE]: 16 YEARS OLD ANXIETY OR LUNG DISEASE PLEASE HELP [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] You have no symptoms , no risk factors and you stated that you have anxiety and the doctor says your clear. You have anxiety. Honestly? It's highly unlikely that you have COPD. You have zero risk factors (one cigarette doesn't count as a risk factor) and almost zero symptoms. Try this: Take a breath in through your nose for a count of four. Hold your breath for a count of four. Exhale, blowing softly from your mouth for a count of eight. Repeat at least 5 times before you decide if it's helping or not. A "count" is any comfortable unit of time. Exhaling for longer than you inhale can relax your sympathetic nervous system (the fight or flight response) and stimulate your parasympathetic nervous system (the "rest and digest" response). It’s very likely anxiety. Very likely. You are probably over stressed and over stimulated. Try disconnecting from social media and start exercising regularly your bugging out. i used to get panic attacks and i couldn't breath when they happened. look up stress managment it will help u I did this for like 30 times and I can’t really tell if it helped I think maybe a little bit, I was thinking maybe I have alpha 1 antitryspin defiency which seems to be the only really way a teen like me could have copd but neither of my family tree seems to have it l. Idk. I heard the average life expectancy after diagnosis is 5 years and I’m just terrified that it could be the case The thing is it’s occurring outside of panic attacks, I haven’t had one in days yet I still have shortness of breath I'm glad it helped, even if it was just a little bit. A person's heart rate actually slows down just a little when they exhale. My dog fell asleep on me and I could tell the difference, just with my hand on his chest, it was pretty cool! I've been Stage 4 (on a scale of 1-4) for at least 5 years, so that statistic is pretty misleading. If, by some wild chance, you do have COPD, it would be in the early stages and much more treatable. Yeah that's kinda how it was for me just always had the feeling until I learned the techniques to breath I’m really sorry to hear that, how bad is breathing on stage 4? For me half the time I can’t take in a proper full breath or yawn and normal breathing feels shallow and forced. Stage 4 differs from person to person. I'm on oxygen full-time and my lung function is about 25%. The main issue for me isn't breathlessness but stamina. I get tired very quickly and recover slowly. I generally don't notice feeling out of breath (though I probably am) until I climb stairs or bend forward and squish my lungs. How's the air quality where you live? Is there a lot of pollution, or smoke? Fresno has horrible air pollution unfortunately [POST TITLE]: ANYONE HERE WITH ALPHA-1 ANTITRYPSIN DEFICIENCY? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Full on ZZ or a carrier? (MZ) I’m a carrier and it basically took 35 years of Marlboro and kicked everything into high gear at ~45. Went from mild empysematic changes on CT in 2017 ( when I became disabled) to giant bullae and extensive emphysema damage to all lung structures by early 2019. Therapy initially showed improvement but a single exacerbation wiped out all gains and lowered baseline levels. I seem to be aging approximately 1 year per 2 weeks as far as my lung disease based upon test results and average onset/course. I’m hoping my son will be free since I married an Asian and they do not carry this (mutation?) [deleted] I think it depends on your bloodwork levels. Im a carrier and other than having copd/emphasema there are no symptoms. I think it's an indicator for me. However ive had family members that died from liver and lung compromises from it. This was before much was known about it and definately before you could check into the hospital for a couple of days and get infusions that would bring your level up. So, I guess I'm not much help. Lol I have spots developing on my liver as well but I won’t live to see the outcome I'm sorry Worth a check. I have a couple of relative that would've been alive now if they'd had the treatment in the 80s they have now. Get a pulmonologist, they automatically check your levels and if low enough can infuse you. Stay away from anything that metabiolizes in the live I.e. tylenol etc and do NOT drink. You can live with this. [POST TITLE]: LPT: IF YOU'RE A CAREGIVER FOR A LOVED ONE SUFFERING FROM DEMENTIA OR ALZHEIMER'S, HERE IS A LIST OF THEIR PERSONAL DOCUMENTS THAT YOU SHOULD MAKE SURE YOU HAVE ACCESS TO IN CASE OF AN EMERGENCY. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] [POST TITLE]: I'M CONSIDERING MOVING TO EUROPE OR CANADA BECAUSE OF MY DIABETES TBH. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] In ireland insulin is free. Test strips, meters and glucagon kits are also free. You need to fit certain criteria to get an insulin pump for free and also CGMs are only free under certain criteria. Hospital appointments with an endo are generally twice a year unless you have complications or are newly diagnosed however you can ring your diabetic team whenever you need help As an American living in Canada I would say there is pros and cons to both systems BUT...as reference, in Canada, a 1 month supply of insulin costs me $30 USD BEFORE insurance. After insurance? $6 USD. My hospital bill for DKA (when I was diagnosed) cost $360 because I opted for the private room, otherwise it would have been free. Ambulance? $0. Two free libre sensors and the accompanying monitor? $0. First two insulin pens? $0. Glucose monitor and container of test strips? $0. Doctor’s visits? $0. Of course, as an international student I do pay for this healthcare as part of tuition fees and an additional monthly fee, but honestly, not a lot compared to the US. It is pretty hard to argue that America’s healthcare is not in need of being overhauled after this experience in Canada. When I was first diagnosed, back in 1978, insulin was $4 a vial over the counter, without insurance. In before the stooges of big pharma come in and defend these prices. I looked into moving to Canada when the 2016 election went tits up. At that time, you could not become a permanent resident or citizen of Canada if you have a condition that would cost more to treat than the average Canadian costs the system. The law has changed since then so that the cutoff is higher, but T1D is still more expensive than the law allows. So you could move to Canada and take advantage of the much more affordable OTC insulin, but you could never become a permanent resident or citizen and fully enjoy being covered by their medical system. Real talk, I tried to permanently move to the EU a couple years ago, thinking this same thing. It was great for a while but it's not so easy legally living somewhere you're not a citizen. I’ve considered it too. Anyone who says you have to wait too long for care in a country that has socialized medicine has never been to the ER in the US before. I’ve also considered just taking a yearly vacation to Canada to buy the supplies that I need... something has to give because the system we have is not working. Depending on the results of this upcoming election I may have to start looking more seriously into other options. Or the uk it’s all free here, for now anyway. Whenever I see a post like this, I am very happy that I live in a country with a functioning healthcare system. I have never payed for my insulin, or any of the pumps that I have used. I feel sorry for you guys on the other side of the Atlantic. Come to Ireland. We pay for it all with our taxes but you’ll get your stuff even if you aren’t working. It’s all free, for everyone. I was under the public system for 18yrs, it was brilliant! Then i developed some other endocrine issues and wanted to see a specialist, and then one particular guy. I see him and his nurse privately now, twice yearly. With bloods, it costs me €580 per year before I attempt to claim any back. Even private healthcare isn’t prohibitive here. I still get all my stuff for free too! Question, if insulin is so cheap to produce why can’t we produce it ourselves? It’s so bad in the US. I got DKA when traveling through Northern, AZ. Didn’t bring enough insulin with me. Started to go into it and when I got to the Pharmacy they were trying to charge me 2,500 for Novolog insulin pens. The pharmacist saw me going into it and literarily went above and beyond to give it to me. It’s just absurd in the US. Some of this was still my fault. I was 19 at the time still on parents health insurance. Reason why it was so expensive the refill had already been completed about a month and a half ago. Come to Norway. I have no idea what my cgm, insulin or other supplies cost. When I went in for my first cgm lesson (1 hour with a nurse educator), she ended by apologizing for the bill I was about to get. I said I didn’t mind, and that the system has been treating me well. She apologized again and said “it’s ridiculous, our taxes should cover EVERYTHING.” The bill was for random admin fees. 75 kroner. That’s 8 USD. There needs to be a way for the patients to represent themselves in the whole insulin process. I've fantasized about diabetics forming some sort of union where we can negotiate prices and skew the industry towards more affordable insulins. Like if diabetics themselves developed their own insulin and had the patent set up so just by being a us citizen and insulin dependent you automatically get a share of the ownership. This project looks insteresting, although I have no clue what the current status is: https://openinsulin.org/ You guys still use vials? We have pens. And it costs around 4:50 for a pack of 5. Do it, you are welcome to Spain. 😃 I was thinking the same, but instead Australia or New Zealand. It seems like no one ever mentions this, but 92% of people in the United States are insured. It’s true this is the out of pocket cost for insulin but very few pay that. Even uninsured folks can get generic pretty inexpensively. I’m not saying we don’t have issues here. It’s a political problem, mainly caused by extremism on both the right and left. But at the same time these memes can be a bit misleading. Most of us have good coverage that includes drug coverage. Its clearly extortion.. i haven't worked full time in years just so I can get insulin free.. no point in working towards a 700 dollar bill. : ( extortion is wrong no matter how you label it "lilly" Come to Germany! I live in Australia and it costs me about $35 for my insulin for about 6 months. Needle tips are completely free, and test strips are heavily discounted to around $12ish dollars or so. The only thing that annoys me is that I have to go to the doctors for a prescription (free), despite the fact that the disease will never go away. Someone put it really well why a country should discount diabetic supplies; it's much cheaper than the drain on the economy of a diabetic who is unable to look after themselves. Come to Australia. I pay $5.50 for five boxes of insulin (25 pens, about 300 units each). It is extraordinarily hard to immigrate to a first world country where you don't have a relative. People get all upset about the US immigration, but these other countries are harder to immigrate to. You should come to Sweden! Free insulin for life yo! Aren't regular and NPH available OTC for about $25? Same in the UK too, we pay for it through taxes sure but it works out so much better in the long run. Hell, my last diabetic checkup they saw my ancient glucose testing machine and were like "here's a brand new one, and all the prescriptions you need for it." I really do feel sorry for the Americans who have to pay through the nose even with "insurance." What are the special criteria for a pump and cgm? I'm in the US and live in the South, and the big argument against Canadian healthcare is "they wait so long, the waits are forever so they come here". I've even had a Canadian who lives here tell me this. And I just can't help but think, I wait for appointments and surgeries all the time. Trying to get into a specialist can be awful. And I was told that Canada has a base plan that is free to everyone, and if you want to pay for "perks" like getting seen quicker you can pay extra. I feel like the "but you have to wait" argument is stupid when here in USA you can be seen quicker, but you're going to pay a bunch of money for minimum care. Right now I buy novalin over the counter in California less then $30 a vial. No prescription needed. This. This is so accurate. Big pharma pumps so much money into buying the politicians that can make this happen, and in brain washing voters into thinking it's a bad idea. My go to argument is to try and get people to see that it literally works everywhere else. The US isn't some geographical anomaly where it can't work. This fucking country. Fascinating. And sad because I’d love to live in Canada! Likewise, I am very lucky. I live in the country with the best healthcare system. America. Despite the complaining on this comment thread... I just disagree. Some people experience hardship, I get it. I'll add... I have a job, work hard, enjoy life and have an A1C in the 5's... Plus I can be on whatever medicine I want tomorrow likely free of any charge. I couldn't feel any luckier. Y'all, change your mind and you change your circumstances! A joke. Nothing is free. Patents. The only reason is patents. End the patents and you end the monopoly. Without patents, anyone could make insulin, and the price would plummet. The easiest way to solve this problem is to end the patents. This is what people think things are like in Denmark but they're not. I should move to Norway. Amen. I feel I have the best care possible at a cost that is honestly too fair for me. Agreed. My insurance is awesome and all my diabetes supplies are covered 100%. These memes are a bit extreme and all the people from other countries saying it’s “free” there fail to realize it’s not free if you’re paying for it in taxes... Yes and they completely unreliable and shouldn’t be sold. I realise that technically we are paying for our healthcare through taxation but in reality the moment your diagnosed as type 1 you are going to cost the NHS literally hundreds of times the amount you pay in through income tax. I think the figure is something like 96% of patients are net beneficiaries of the system. So unless you are right on the very end of the income scale you’ll be getting out more than you put in. As someone who paid in for years and never used the system I was still more than happy with it... and then when I did need it, man was it there! [deleted] In Ireland there is a set criteria such as not being hypo aware or being very young. But in reality if you ask for it at your clinic you'll be accepted and get a prescription for it. In my case it was because I did a lot of cycling and that was good enough. I think I remember someone saying it was something like if you had trouble sensing hypos or if you were under 3 years diagnosed - could be wrong though Uncontrolled sugars and a poor A1C are the criteria for a pump although if your diagnosed before the age of 7 you’re automatically given the pump. Cgm is tricky as it varies with certain hospitals. Some only offer the libre and that’s free if you’re diagnosed between 7 and 21. I was lucky because I was diagnosed at 21 and I got my libre two weeks before I turned 22. My endo has to put in a special application stating that I had no hypo awareness. Also in ireland you can qualify for free gp visits if you have complications and can prove that paying €60 to see a doctor is causing financial stress I have a CGM as I’m a teacher so making the argument that I can’t easily test at work. Especially not as I’m a science teacher. I say “argument”, I just merely mentioned it and they immediately prescribed As a Canadian I just want to make it clear there are no different plans in our system we all have the same, you cannot pay for perks. The “we have to wait” thing is such a bullshit misnomer too. You have to wait for elective/comparatively unimportant (ie: non-life saving surgery). The reason you have to wait for these is because we triage our healthcare by priority—shocking! My dad did have to wait almost a year for a knee replacement which he did really need and it was a long wait—but my partner was diagnosed with stage 0 testicular cancer and had ultrasound, CT, and PET scans within 5 days and they had the ball out within 2 weeks from the date of realization. I broke my face in 13 places and had top notch surgery within hours. When I was diagnosed with diabetes, blood was drawn by my family doctor, put in a cab and sent to the hospital. The hospital called me 3 hours later and had me admitted that night with an endocrinologist already attending by the time the sun came up the next morning. You “have to wait” here because the concept of tiered healthcare based on ability to pay is completely anathema to our national identity and ethos and so you may wait for some things but you will be seen promptly and competently (and always for free) in the case of *actual* emergencies 100% agree. When the urgent care doctor told me he was calling an ambulance to send me to the ER for DKA, my first thought was thank God I am in Canada. Because in the US that same hospital stay could have bankrupted me. A tad bit more care and efficiency is not worth the trade off in my opinion. It’s better than nothing but not really the same thing. I’ve been glad to have novalin as an option when I’m between insurances but I’m never as healthy on it as I am when I’m using novalog + lantis/levemir. It’s also not rapid acting and shouldn’t be used in an insulin pump. Novalin isn’t the same thing. It’s not just the healthcare, it genuinely seems like a very nice place to live! You are very lucky, but it's just that. Luck. Not everyone has been that fortunate and just changing our minds won't fix our bodies. Some of us have other health issues on top of diabetes, for example, that make being able to afford to have a decent life after medical bills extremely difficult. Also, when you consider the fact that most jobs with decent pay and benefits require overtime and some of our bodies just can't do that anymore... it's not such an easy issue. I'm glad that the system has worked well for you. I truly am. But it fails other people and it's not always as easy as a change in attitude. At point of purchase, yes it is and you don’t even see a bill. Which means that no-one is left behind. If I’m not mistaken, some of the patents on Novolog already expired. The issue is that fast-acting insulin is actually a very extensive process to manufacture, and can’t be done without a giant laboratory, chemists and machinery. So I’m guessing patents aren’t publicly available? So no one really knows how to produce it, is that the problem then? I only ask because I’d assume if production was so cheap and if it’s production was public knowledge wouldn’t illegal markets flourish in selling insulin? To clarify: I do have what Americans would call a co-pay. That is, I have to pay the first $200 of my ANNUAL medical bills out of pocket. After that, I don’t see bills at all. For me, it works out to paying for doctors’ appointments, medications and supplies until roughly mid-February. The rest of the year, I just get my stuff or see my doc at no charge. (Yes, yes, I pay taxes. My income is taxed at roughly 30%. And consumption taxes are around 20% here. But I take WAY more from the system than I put in.) I don’t even come close to paying my own coverage and I’m a good earner in the UK. Besides which even if I were fired, made no tax contributions at all and had no job it would still be free. In fact I could actually have been fired, be given a weekly wage by the government (JSA) while I look for work and I’d still be free. Of course my taxes are high for all this but I gladly give every penny. I’m not saying your system hasn’t worked for you but it does seem quite easy for that system to stop working suddenly If say you lost your job. Maybe I just don’t understand it though? StinkyAif knows more than the FDA and EMA... 🤣 Yeah I totally get that in the vast majority of cases we are getting out a lot more than we put in. It is socialised health care after all. I pay in a fair amount for how much I earn, and get a lot more back in return. However saying that if the NHS wanted to charge me what they paid for insulin, it would be shit, but not impossible to buy at £29 odd for 5 prefills. While there are many factors that go into explaining any country's overall tax burden, the stand-out difference explaining the overall US tax burden is defense spending. Since WWII, the US has shouldered defense spending that frees up western Europe to spend on other things (or not spend at all (e.g. UK)). Latest numbers I could find show the UK spends $1,234.50 less per year PER CAPITA on defense spending. I got my CGM the same way. Didn't have much issue otherwise, just thought it would be handy for exercising. It's been a life changer for me. My endo made a (what turned to be a successful) case for my getting a pump and cgm (sensor and transmitter) because I have nocturnal hypo unawareness and I was recently widowed. I was so pleased when I received it all. No more carb loading at bedtime and then having to spend all morning safely bringing my self-imposed high blood sugars down before carb loading again at bedtime. I felt like I was on a bloody hamster wheel. Pump, cgm, transmitter, insulin were all free. All meds are free if you have diabetes. I’ve had it for 41 years. /most recent A1c was 6.1 👍 Ohhhh, I remember talking to a classmate in college (like, 10 years ago) and she was saying her Dad had a private plan through his job which got her seen faster. Well said, every word of this is also true for the NHS in England. People are so wrapped up in what they think they’re entitled to that they just can’t even be thankful for what they have I totally understand and agree with you. And you know, I even understand why some people get upset of having to wait a year. You're in pain and your life is affected. I totally get that. I'm sure your Dad would be stoked to get his knee surgery quickly. But geez, are you willing to pay thousands of dollars for inefficient healthcare to have that privilege? Yes I understand. There are plenty of things to fix and all circumstances are different. I am just replying to a comment which assumes their situation is better in another country. I thought I'd try to explain that our situation is nothing to feel sorry about. America is the best and thinking you'll move to fix your circumstances is often an irrational thought. I suppose there are outliers. I hope you're all good. Maybe it's your throwing of the word free out there. Implying you don't even need a job... In America we don't promote that. At the point of purchase mine is also free. No bill. No trouble. I just don't think moving to Ireland from America is a good solution for anyone. At least not on the single basis of "oh, ok free healthcare"... Flawed thinking. Some, yes, but they keep playing games with the system. They can change the carrier, patent that, and it retroactively protects the previous versions as “biosimilar” products that are covered by the new patent. It’s a loophole in the patent system that’s being abused beyond any semblance of morality. The patent on insulin should have expired ages ago, but here we are. The whole system needs and overhaul. Other countries are either not allowing patents on drugs, or only allowing them for a very short period of time. I’m in favor of no patents on any drugs, not just insulin. It would save us all billions. It’s not a simple procedure to grow insulin. It’s easier to bake meth, and we all know how good the US government is at shutting down illegal meth labs. If you are going to break the law and risk imprisonment, there are far more drugs that will make more money. There is a group that is working on a new insulin protocol with plans to patent it and open the patent without royalty. They are called the Open Insulin Project. If that project is successful, it should have a similar effect. They are still a long ways off though. Yeah, that's definitely still much better than in Denmark. My annual copay is about $700. I do have a Libre but the vast majority of T1Ds here don't as it is very difficult to get, and consumption taxes are 25% with marginal income taxes generally above 40% and sometimes above 50%, and if you get unlucky, the system can be remarkably brutal in its treatment. Denmark really is not at all worthy of its reputation. Wtf is your issue with me? Stop following my posts. Some companies Human Resources department will offer expedited health care, but it’s pretty rare! Great if you can get it though. Canada on the whole looks like a great Health Care System, but I really encourage people to look up what is going on in smaller provinces. Like pretty good care for big provinces like Ontario, but when you start getting into places like Manitoba and the Atlantic provinces it’s very scary. In my own community there is a crisis. Our hospitals our shutting down and we LITERALLY have no doctors. They are literally BEGGING people to come. I, a type one, had to BEG for a family physician. The only reason I got one is because he was my moms doctor and she harassed him about taking me on. It’s honestly really scary and no one talks about it because we are such small provinces. Just this week in Sackville NB they made ER hours. The ER is closed between 4pm and 7am. Closet hospital between 40-2 hours away. Emergencies don’t run on business hours. It’s a very sad situation for these provinces. Sorry to spew this all I just want people to know it’s not all flowers. Because our health care is free we will literally can’t keep our hospitals open! It’s sad but reality for small communities. According to, you know, facts, there are 44 million uninsured “outliers” in the United States. You don’t need a job. I don’t have a job. You just need a visa. What happens to American citizens when they lose their job and can’t pay insurance? They lose their healthcare. I’m delighted you have free at point of sale supplies but not everyone does. Here at least you don’t risk dying if you lose your job. That’s not “flawed thinking”. It’s giving a shit about your citizens. If you are in favor of no patents on drugs, then biopharma companies have no reason to develop new drugs. It would save us billions on nothing. If other countries don’t allow patents on drugs, then why aren’t we seeing dozens of generic insulins? Patents or not, modern insulin requires massive infrastructure to produce. It can’t be done in an RV Breaking Bad style. Thanks for the info I’m an immigrant from Canada, and though we are very proud of our healthcare system there, it is very dependent on which province you happen to live in. I couldn’t afford to live in my native Quebec, for instance, with my current job (and insurance, or lack thereof) and diabetes. No system is perfect, but I think we can all agree that all of the Nordic/Scandinavian countries are preferable to the US. I can’t believe some of the posts I read here about how much they pay. It’s insane and inhumane. Oh you again... Hey! No, no honest mistake... Done. I actually understand exactly what you mean. I live in Alabama, which has a lot of rural poor areas. There are some counties with no hospitals and very few doctors. If I remember correctly, it's because they're poor areas so it's not profitable to have hospitals/doctors there. So we have this huge crisis, for example, of women having to drive two counties over for prenatal care, and a lot don't, because they're poor and can't afford to. We're also one of the worst states for the recovering mother, because when you have to drive an hour+ for care, you don't. I drive a little over an hour for my endocrinologist, but most people in the town I live in just use the walk in clinics or their family doctor for their diabetes care. No system is perfect, totally agree with that, but when you compare our system to other countries systems...it's outrageous. But money rules everything, and I have a theory that countries with NHS are purposely defunding it so the private sector looks really great. But when it's private you pay like $500 a month to just have the insurance, then hundreds for copays and coinsurance. It's ridiculous. Here's a pretty long article about it. https://www.apr.org/post/help-wanted-alabamas-rural-health-care-crisis-0 That's not a fact. It's a little over half that. Plus many of those (legally here) could get insurance if they took a few steps. Over 90% carry insurance in this country. Of those who do not (call that a minority of people, not outlier) many could do better. I don't imply it's easy, but some people don't know what's available and fall victim. I'm calling the outliers the people who are truly screwed by the system. It's sad. It's horrible and it shouldn't be... But it's not common enough to call it widespread. I'm sorry if that's you. If you need help getting insulin and cannot afford it, please DM me. You're assuming a lot of things. I never said it's perfect. We've attempted to provide basic care for everyone. Plus you don't just lose your insurance. You have options. And I know it's not easy for everyone. Wouldn't be for me either. And that is hardship so I feel for those people. But to try and convince anyone they need to move to Ireland from America, I'm sorry, but no. There are more rational steps to take beforehand. I hope your job search goes well. You were put here to add value, not receive it for free. The only reason it costs billions to produce drugs is the enormous regulation in the US for doing so. Rolling that back would also save us billions. We don't see dozens of generic insulins again because of the FDA and the patent system. Any product that violates US patents is not legal to sell in the US. Any drug not approved by the FDA for a specific purpose is not legal to prescribe for that purpose in the US. Insulin has actually been produced during times of war by volunteer groups using pigs, and there is a very well published protocol for that. Producing insulin is not simple, but it is also not impossible either, and for a company that is reasonably equipped it's no more complicated than making beer. You create the carrier solution, inoculate it with the insulin creating bacteria, wait, filter out the bacteria, and you have insulin. It takes some infrastructure, but not a massive infrastructure, and once the market was opened up, would represent a huge opportunity. People always bring up the necessity to make profit, but that is not the only reason that people do things. Dexcom was started by a father who's daughter has diabetes that wanted a better CGM technology. The original patents for insulin were given away for free. Medical research and technology development can and will absolutely flourish without a patent system in place. It always strikes me as so odd that people defend so vehemently the system that is literally trying to kill them. Yeah, it's better than the US (though a much larger proportion of T1D's in USA have CGMs than in Denmark, and people with insurances in USA typically pay a similar amount to what I pay), but not by a particularly large margin, and Denmark is certainly very far behind the rest of Scandinavia and behind all other Northern countries as well. Being better than USA on this front really isn't a particularly high standard. YES, TOTALLY agree. No system is perfect, and personally I don’t think privatizing is the way to go for ANY country. Health care should not be run like a business. Our government has mentioned it a few times and everyone goes mad (rightfully so). What better way to get what you want than try and prove the other way is better by making conditions terrible for many. Seems fishy now that you mention it. Looking at the state of my community is absolutely disgraceful. One of our biggest issues is with mental health clinicians. We have - I think - four in-patient psychiatrists at our hospital, NO outpatient support. The suicide rate is deplorable. I have little faith, but we shall see. Literally no doctor wants to work in our community because they can’t pay them fair wages. See the problem is that the provincial governments are responsible for healthcare in Canada, so if you live in a poor province, good luck! They need to make it federally funded, or at least contribute a little to balance out the inequality! Thank you!! If you are interested in what I am talking about I am going to post a few here. https://www.google.ca/amp/s/beta.ctvnews.ca/local/atlantic/2020/2/12/1_4808691.html https://www.google.ca/amp/s/beta.ctvnews.ca/local/atlantic/2019/1/12/1_4251142.html https://www.google.ca/amp/s/beta.ctvnews.ca/local/atlantic/2019/1/24/1_4266683.html I live in a social democracy where I pay just over $200 per YEAR out of pocket for all of my medical needs. Way better than the States, but thanks. Let’s say “only” 25 million Americans are uninsured. What should they do? What will you do if you ever become one of them? I’m not trying to convince anyone LOL. I’m reply to the thread. Look. ^^^ up there!! And Seeing as we are jumping to assumptions, you’ve made a massive VERY wrong leap. I am not looking for a job. I’m not unemployed, I just don’t have a job. I’m raising my children and I don’t take a penny from the government. I get my diabetes supplies through the socialised medical system. It’s perfectly legal and available to EVERYONE. You clearly have a bee in your bonnet so I’m not engaging with you anymore. True. CGMs are fairly new to Norway too. I was initially deemed “too healthy” to get one, and was put on the waiting list. I didn’t really mind, as I know there are people in much worse predicaments than I. In the end, I waited about 6 months. The endo explained that the Norwegian system is still figuring out the economics of supplying cgms vs test strips. After this 2 year “limited release” period, I’m confident that they will see the financial benefit of widespread cgm use. At least Denmark has cheap bacon and cheese! It's so sad. It's all the same story "People need government funds for this. Government decides to put funds towards something else. People suffer" It makes me so angry. Social democracy, oh neat. Not better, different for sure. But thanks for what? To be honest I think the insurance industry is a sham. That's our problem. If we could ever get rid of the middle agent (insurance) and figure out how to make healthcare more capitalist and less social, we'd see supply and demand impact both price and quality in a way that'd provide everyone a $2 bottle of insulin. That's fact, but we may never see it... Who knows? Yes I assumed you were looking for employment. I have kids and know it's the toughest, yet most rewarding job. My wife can do that here and get my level of care equally. By the way, I did read the thread, your first words were "come to Ireland"... Still not a viable solution regardless of intent to move or just visit for free insulin. And if just goes on and no one does anything. It’s sick. Becoming an adult and realizing the worlds atrocities was the most depressing thing I’ve ever experienced LOL Caveat, strip the patents too. We need more options for the same or better insulin. Thanks for offering me insulin? Put your offer out to one of your countrymen. I’m sure they’d be grateful for the help! You wouldn’t get free insulin if you just visited. You need to be here legally with a visa. “Move to Ireland” is a welcome, a starter to have a conversation about different countries and their healthcare. Which is what many others on here are also doing. Why not comment to the OP and tell them how you have managed a free at point of sale Diabetic supplies system that isn’t at risk if you lose your job? I’m sure many people would be interested in that. This whole chain was a really interesting read and you are absolutely right about no system being perfect but it does strongly seem to me which I’d prefer. I have been so shocked by the stories of T1 patients from some countries, mostly the US if I’m honest. It genuinely makes me feel sick some of the time! I do - All the time, as best I can. And they are thankful. Sometimes it's tough to know how to help yourself. You're right a lot of other posts are similar. It doesn't bother me that any of you are proud. I'm glad things work as you'd like. It bothers me that these open invitations to relocate feed into the mindset of poor me. I'd be amazed if someone said "mom, Reddit told me to move away very far and I can get free insulin in Sweden... Bye for at least 12 months" ... It'll never get there, so it's a fantasy. I try to promote having goals with logical steps to get there... Sounds crazy. Some people need help, I don't dispute that. Others are wrapped up in bitter paralysis and just don't know where to go. We should try not to misguide them. [POST TITLE]: A LITTLE LESS THAN 1 YEAR AGO MY A1C WAS 12,8% BECAUSE I WAS REALLY NEGLIGENT WITH MY DIABETES. TODAY I GOT A NEW RESULT, 7,2. IT'S NOT THE BEST RESULT YET, BUT I CRIED A LITTLE. STILL HAVE SOME WORK TO DO, BUT I'M HAPPY THAT I'M GETTING RESULTS [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Not the best result? Don’t sell yourself short. You put in the hard work and have been rewarded with such a great number!! Congratulations, we all can appreciate how hard it can be to achieve such a great number. Excellent! This battle is won by the choices you make every day, day after day, and you are making good choices. Congratulations! Congrats buddy! It’s the best feeling isn’t it Hey there- ​ This is AWESOME. I hope you celebrate, and pause and reflect how far you come. Having a "perfect" HBA1c is a tough and potentially unachievable goal for many. You improved. You are better. You are taking care of yourself and making thoughtful and strong decisions. That is awesome. You should celebrate and be proud. I'm super proud of you and wish you continued diligence on this lifetime of journey This is fantastic! It really gives me hope! My hba1c at the moment is 12.0 which is possibly the lowest it's been for me in 4 or 5 years! I had a rough time when diagnosed and I've neglected it for many years and I'm finally improving. It gives me hope to know that I can do this. Congratulations! This is fantastic and is an amazing result - don't sell yourself short! Fantastic! Great work! Parabéns! =) Parabéns!! Continue no caminho!! Good for you. It never is easy, but celebrate every victory you can Congrats!! You are doing great, don't sell yourself short! It is HARD work. Be proud of yourself! Several other people commented something like this already, but I just need to reiterate it. Celebrate your victory! Be proud of your MUCH LOWER A1C! Look at the improvement you have made (with hard work and dedication). Be proud of yourself - we sure are proud of you! You made that happen! Go you! Beautiful! The battle never stops though. Keep on fighting. I'm so proud That is huge!! Great job!! Holy crap - that's amazing. Great work!!! Keep on the good work, its worth it Excellent work Not the best result? Why are you undermining your accomplishment? You are amazing! Be proud of yourself! That's a huge success! Congrats. Parabéns! Com bomba ou canetas? Continua no bom caminho :) Great Job! I'm proud of you! That is a huge accomplishment! Keep up the good work That is a good result in only one year Stay motivated. That’s phenomenal! Nice work!! That is awesome. This disease is a marathon, not a sprint. I’m a little higher than you right now, (7.5) but am trending positive as well. Keep it up, and try to reach out to locals as well, having a couple friends break my balls a bit every once in awhile has really helped me stay focused. I’m so proud of you!!!!! Invejável essa hemoglobina heim! Parabéns! 7.2 is fantastic. Muchas felicidades! Sigue adelante! That is a huge improvement and a great result even without the improvement. You deserve to feel fantastic and I don't blame you for tearing up. Hard work paid off. Feel good about it! And well done! It's not easy and few people will know how hard it is. Congrats Fucking A! Keep up the good work! Thank you! I was mad at myself for being neglected, so I work hard to a result above 7 in a year which I didn't achieve. So I guess I was a little disappointed with that when I post the results, but now I know that it was a huge thing and I'm proud. But I'm close to my goal and I will absolutely continue to work and take care of my health Thank you! It's hard, but I want I better life for myself and my family Thank you! It sure is. And it only motivated me to keep doing the right thing Thank you for that! I will keep that in mind everyday and make my choices thinking about my health and I will celebrate every accomplishment! Thank you! I'm really happy to give you hope. Keep fighting, don't let this disease take the best of you. I know it's hard, but you will get there as well. Congratulations for the improvement. If you ever need to talk, I'm always up to meet new people and help with everything that I can Thank you! Obrigada :D Obrigada! Com certeza continuarei. Every improvement is a motive to celebrate Thank you! Thank you! I'm feeling proud now. And I hope that on the next exam I will feel proud again Thank you so much! I love this community and the fact that everyone supports each other because they can relate to the joys and the hard work. And when things are going bad, there's no judgment, only love and kind words. Cheers! Thank you very much. Now I know better and I take care of myself. It's hard, but it's not impossible Thank you!! Thank you! Hope the next exam will be lower than that It definitely is! Thanks! Thank you! I don't have much reference since I don't know anyone personally with t1d. So when I post this, I thought that the result could be better. But I love this community and the fact that everyone understands how this is a big deal. And even I little victory is a motive to be happy and proud Thank you! Obrigada! Uso caneta. Infelizmente não tenho capital pra bomba. É só o controle na caneta e fazendo vários testes com tira reagente Thank you! Thank you so much! It's great when people understand this victories I'll definitely stay motivated! Thank you! Thank you! That's great, congratulations! keep the good work. I live in a small town but I don't know much people. Since I was diagnosed I only met 2 other people with t1d. They were diagnosed before me and couldn't care less about it. We engaged in a few conversations however we weren't on the same path to be health and lost contact. I don't know where they are but I hope they are fine now and were able to find the guidance to deal with everything Thank you so much <3 Demorei, mas consegui kkkk obrigada Yes. Now it's work to at least stay that way Gracias! Thank you! Right? My parents and SO were proud but I have the feeling that if I have told this to other person with t1d we would have jumped with joy haha Thank you I will! Indeed. Keep it up It is a big deal and a big achievement. I can see how if you only have the internet to go by, you could think that everyone is doing amazingly with flat lines on their CGMs and 6.0% A1C results. But that’s because people are far more likely to publicize their victories than their hardships. For every person on Reddit with good news, there are plenty more who are not sharing the bad. The internet is a highlight reel. Realistically, none of us can achieve perfection. I hope you’re celebrating! You deserve it! This thing is not easy to deal with, and it sounds like you are getting better at managing it. Keep going! You're going to love you for taking care of you! I don't know if you have thought about this, but have you considered getting a blood sugar monitor? There are several good ones on the market. I have a Medtronics one, but if you are getting a stand-alone one, there are better brands. I have just started using mine, but I am finding that it helps me keep within the bounds of the suggested limits. My problem is that I cannot tell when my blood sugar is low and it frequently dips below 40 unless I am vigilant. You're right. It's definitely hard to post about our failures. I always feel like crap when I can't control my levels and it's hard to show this to everyone. I guess it's time to chance that so we can have support when the news are bad. A kind word is even more powerful when we are not doing fine. Especially when it comes from people who understand the struggle and the hard work it takes to control the blood sugar and have good life It really isn't. But I'm learning a lot more about t1d an myself, so it's getting a little bit easier. And I'm already loving I can feel the difference, I have more energy and I'm happier. I thought about it and even looked it up in my country. But here the monitors are way expensive and I don't have the money for it yet. Also, in my state I couldn't find it so I would have to buy it from the internet and the fare is half the price of the sensors (considering that I only found the freestyle libre) But I make my control the old fashion way piercing my finger. I hope sometime in the future I will be able to use a monitor, it sure will make things a little bit easier. Excellent! Good Job! Even with a monitor, I still have to use the finger stick method a bunch of times every day(sigh). The real advantage to the monitors is that you can track your patterns and adjust your insulin intake to fit the pattern. The problems never end do they? Yeah, a new problem always comes up. The funny thing is that I find the problem mildly annoying and my SO gets desperate like "omg you're dying, what I do?" haha [POST TITLE]: GOT DIAGNOSED WITH HEMOCHROMATOSIS. NEED HELP/ADVICE WITH DIET AND LIFESTYLE, AMONG OTHERS. [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Do you know the results of your genetic test? There are several types of haemochromatosis. The most common one is hereditary (classic) haemochromatosis (aka type 1 haemochromatosis). This is due to mutation in the HFE gene, usually C282Y, H63D, and S65C. Being homozygous (ie, having two copies of) C282Y is the most common genotype responsible for iron overload. The other genotypes usually have lower risk. Your age is very young for the diagnosis. Haemochromatosis usually shows up in males in their 40s, in women after menopause (60s). Your age suggests to me you may have juvenile haemochromatosis (aka type 2), which is diagnosed in people younger than 30, and is usually due to a mutation in the HJV gene. Your genetic test result should have the information about which gene was detected. Now, diet. If you want to reduce dietary iron, you should reduce your red meat intake (beef, lamb). Chicken and pork have less iron. Look up some tables of how much iron is in foods, and adjust your diet accordingly. Basically look at advice given for iron deficiency anaemia, and do the opposite! So DON'T have vitamin C rich foods with your meat, as vit c increases iron absorption. If you are consuming meat, have a strong coffee or tea with your meal, as the tannins in tea reduce absorption. Or have a glass of milk - again calcium reduces absorption. Avoid iron fortified foods like certain cereals (always read the ingredients). What is your ferritin level? Normal range is 20-300 (upper limit is a bit lower for women and a bit higher for men. Upper level guidelines vary slightly from area to area too). Anything above 1000 is very likely to do organ damage, and should be aggressively reduced. The main target is usually the liver, so if your levels are very high, you should avoid alcohol as this compounds the damage. Once you get liver fibrosis, the damage is irreversible, so don't stress your liver with alcohol! Phlebotomy/venesection (removal of blood) is the frontline treatment. One venesection of 500ml removes the equivalent of 250mg of iron, which is 4-6 months of absorbed dietary iron. The recommended daily intake (RDI) of iron is 8-18mg/day. The takeaway message here is that while yes, reduce your dietary iron, but don't obsess over it either. One phlebotomy will take out way more than that! You've mentioned you are anaemic. Has the cause of your anaemia been identified? It's obviously not iron-deficiency anaemia! I too am anemic. I am a H63D Carrier only but I overload some. Because of the anemia, I can't do phlebotomies yet. I avoid red meat and alcohol when I can. If I am going to eat something with high iron, I eat a calcium chewable or two first. Calcium is supposed to inhibit absorption. Strangely enough, after I spent some time trying to eat more veggies daily, including high iron ones, my anemia improved. I read plant based iron is harder to absorb. And you know you need to avoid processed foods enriched with iron like bread. I haven't bought a cookbook yet. But I would advise you to learn to cook, if you haven't already. When you cook, you control what you eat. You can Google every food for nutritional info. Oh, and to start off I freaked out and tried to restrict iron completely. Ha. Guess who was left feeling exhausted? 😀 iron is important. We have to avoid eating too much of it. Good luck. Start with a Google of healthy foods low in iron. I'm sorry you went through that with your doctors. Medical professionals really need to catch up their patient care to fit 2019 knowledge of genetics and their increasingly genetically diverse patients! HH is one of the most common and easily treatable genetic disorders globally and it really is unacceptable that doctors choose not to screen for it when people are young, before they experience permanent, entirely avoidable organ damage. The good news is that it's very possible that now that you have ceased iron supplements your iron overload may resolve quickly, and once lowered you may be able to keep in healthy ranges with virtually no medical intervention. Are you a man or woman? If you are a woman, there is a chance you will reach a point where you don't need chelation therapy or to do blood donations at all until you reach menopause. I developed iron overload when I was 19 because I'm homozygous for classic HH mutations and took bc pills continuously (no period) and ate quite a lot red meat for a couple years. For me, a blood donation or two per year and limiting my red meat (and artificially iron fortified food) intake has been enough for me to avoid iron overload even with two copies of the C282Y mutation. The fact that you are so young to develop iron overload and have anemia complicates things and for that reason I would make sure you are tested for all known HH associated mutations, particularly the gene associated with Juvenile (Type 2) HH, as that can be more severe and require extremely persistent lifelong monitoring and chelation treatments to avoid organ damage. I would also definitely investigate the source of your anemia... Is there a family history? Definitely want to eliminate the possibility of other genetic disorders or something else going on. don't cook in a wak. Hemochromatosis is diagnosed via genetic testing. I’m no Dr. but I don’t think you can have hemochromatosis and be anemic, that’s like an oxymoron. Have you recently got a tattoo, or had one removed? It could also be environmental. Maybe you are drinking tap water which is hard water, or working with metals? This is excellent advice and some really important questions, OP! Definitely find out what may be causing your anemia. Low impact exercise (eg. weight lifting) and healthy, veggie rich diet may help, but I'd make sure you don't have any other underlying illness or genetic disorders that could be the source. Does anemia run in the family? Hi. I thank you for taking the time to respond. I just looked at my lab results and I read "Positive for mutation in HFE H63D" so it's type 1, just like what you said. My condition (hemochromatosis) was actually discovered by accident during an ultrasound, while I was being treated for kidney stones. We found out that my spleen was enlarged. After a visit to my haematologist, my blood tests, especially iron studies, were extremely abnormal. I couldn't remember the exact number, but it was really, really high. Maybe this was aggravated by the fact that I had been taking iron supplements for almost all my life, which was admittedly a mistake on the part of my parents. My Ferritin level, as of April 25, 2019, is 1011 ng/ml. I know it's high, but it's nothing compared to mind before its discovery. I have had 800 before though, just before I stopped chelation medicine in 2018. Yes, phlebotomy is really the way to go, but it had been hard for me because my hemoglobin levels are usually always below normal (As of April 25, it's just 11.3 g/dL). This is the reason why the doctor recommends the more expensive iron chelation therapy. As for the cause of the anemia, I am not sure for now. Due to my schedule, I wasn't present during the doctor's diagnosis of the disease. I'll have to ask my mother for that information in due time. Lastly, thank you for the advice on my diet. I will take note of it. For now, I think I also need to adjust my mind with the changes that are to come in my life. Once again, thank you. :) Avoid raw seafood like the plague and don't walk in the ocean if you have a open sore anywhere. We have to avoid the Vibrio bacteria. No sushi for us! Thank you very much! I too have been avoiding red meat, as what my doctors have recommended. I've been eating chicken and fish and maybe some veggies (my doctor suggests that I also avoid green leafy veg, to my disappointment). But other than that, I don't know what else is good for me. I eat home-cooked meals every day, although it is my household help who cooks it. If only I could give her a list of food that's perhaps 'acceptable' for this situation. I am still at that stage in my life where I am still trying to accept the fact that I cannot live it like before and eat anything I want. Once again, thank you for your reply. It means a lot! 😊 Hi. Thank you for your response. You are right and my doctor told me the same thing about women probably not having to undergo chelation therapy or even blood donations as it comes naturally. Unfortunately for me, I am a man :D It took a long time for my diagnosis because my doctors (haematologist and gastroenterologist) took a more conservative approach, as they took into consideration the fact that my parents admittedly and mistakenly gave me iron supplements for a very, very long time, probably almost all my life, under the belief that such intake can help me with my anemia. The doctors thought that the overload was caused by this, hence the somewhat late diagnosis. I viewed my lab test and it states: "Positive for mutation in HFE H63D" and below it, under the procedure's limitations, "The assay covers 3 mutations in the HFE gene: H63D, S65C, C282Y." Reading among other replies, I say it is Type 1 (?). (I apologize for my ignorance and please correct me if I am wrong). As for my anemia, I am not exactly sure as of now about its cause and I'll still have to ask my mother about it in due time. When the doctor explained to her my diagnosis, which presumably included my anemia, I was not present because of school. The doctor, though, recommended that I take Folic Acid (Folicard B plus) once a day. Once again, thank you for your response. I needed it :) This aint it. Not only are you not a doctor but you apparently didn't so much as read the wikipedia page on Hereditary Hemochromatosis before you posted... Why are you even in this sub? If you have HH, please please do some research so you can properly advocate for yourself! Thank you for your opinion but high levels of iron doesn't always mean high levels of hemoglobin. My doctor even said that my mom should have given me Folic Acid instead of iron for the hemoglobin deficiency. I did mention that I was diagnosed with finality after a certain test which name I forgot. That test was a genetic one. It's conclusive that I have hemochromatosis, according to my doctors. That is incorrect. Anemia can be caused by other health problems and a person can have both anemia and hemochromatosis. I understand the confusion because I initially had the same assumption. Anemia complicates a hemochromatosis diagnosis because the easiest treatment is phlebotomy. You can't go this route if you are anemic. If you're not in iron overload and your liver and immune system are healthy, you're not at higher risk from vibrio bacteria than anyone else just because you carry HH gene mutations. You may not need to restrict your diet as much as you think! Avoiding iron supplements and iron fortified processed foods paired with some blood donations may actually be enough in the longterm, at least until you hit menopause, at which point more regular blood donations may still do the trick without changing your diet too much. While your Iron is elevated, it is best to avoid red meat as well so as to get your iron down as quickly as possible, but once it's resolved you can try adding red meats back in slowly and if your iron overload and organ stress resolves you are safe to eat raw seafood again. I got diagnosed with it January of 18 at 26 years old. I will read up more on it though. I see. Thank you! I had been avoiding red meat, as the doctor recommends. It's kind of hard though, having to change my diet all of a sudden. It even makes me a bit jealous of my other friends who get to it everything they want haha! I do hope that my iron chelation therapy is working effectively or that my hemoglobin level goes at least minimum normal level so I could go for the more effective phlebotomy. Question though: Are leafy vegetables okay? I remember my doctor telling me before to avoid it. I am not sure now. [POST TITLE]: URGENT! HELP WOULD BE APPRECIATED...FEELING VERY LOST [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Qwerty gives a good answer. You need to know your Ferritin number. It would be rare to have HH effects at your age. Without your numbers and the genetic test we can't really give advice. I don't know what your doctor could be basing this on. Do you have any other sources of iron in your diet or environment? Even if you took out red meat and iron rich vegies, there are a **huge** number of other options. I think you know that right? You should work hard to gain weight. HH is not treated by changing diet it is treated by blood donations. Diet may help, but it is mostly blood donations. Also, why do a test on your dad? Do the test on YOU ! Honestly don't worry about your diet my husband was diagnosed with HH and his doctor said that it would drive him nuts cutting iron out of his diet. I also recommend doing 23andme test as they test for this specific disorder and can show if you have gene required for it. Why does your Dr have this suspicion? Did you have an iron panel blood test? Any relatives with HH? You really shouldn't worry too much about how much iron is in your diet. Iron is everywhere in all foods and you really can't avoid it in practice. Your first priority is to get enough calories, and protein. Its fine to limit the red meat to a few ozs per week, and maybe avoid the highly fortified cereals, but its the heme iron that is most readily absorbed, so things with iron compounds like ferrous sulfate are less important. But more too the point, you need a genetic test to really confirm the HH. Good luck! My husband is 28 and was diagnosed at 26. It was a shock but you’ll be okay. Carbs and chicken and eggs are all good foods to eat. Get your numbers from a blood test and look into 23&me or ask for a genetic test. Focus on getting yourself healthy first before starting to worry about the blood. If you are diagnosed and treated you might put on weight, I went from 7 stone to 10 stone in a short amount of time once my body wasn’t so exhausted You are still young, so your iron levels shouldn't be out of control, that builds up over time. Tannins in tea and coffee reduce iron absorption. If any of that helps. Thank you for offering some ideas to go about this :)! I cutout red meat which is fine with me but living with no close to no leafy greens is hard. I'll look up the 23andme test right now First off i appreciate you offering some advice:) I don't have the exact numbers on me unfortunately (I forgot to write them down) but she said my iron levels have been increasing at a high rate since I was 17 years old. She wants to do a genetic test on my dad to see if he has it to but his work always has him on the road so he never goes to take the tests sadly. I'm sorry this took so long to get back to, but I'm really curious, if you were 7 stone than that means you were underweight to give blood. So how did they go about about treating your body? In the UK we just have venesections at the hospital until levels are 50-100, so i did that for about a year then put on enough weight that i give blood, then wait 3 months and go the hospital, then 3 months after i give blood so i keep a track of my levels without taking up too much appointment time at the hospital for people who need it My weight didn’t really seem to be an issue especially as it balanced out so quickly once i was healthier, it was almost like once my levels were sorted my weight was too [POST TITLE]: WHAT ARE PEOPLE'S EXPERIENCES WITH ALTERNATIVE THERAPIES (OTHER THAN PHLEBOTOMIES) FOR HEMOCHROMATOSIS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] The root cause, for most people, is genetic. We do not currently have the technology to address the root cause in humans. With technologies like CRISPR, it may be possible to do so at some time in the future. ​ Based on the reading I have done, the consensus among the experts is that it cannot be successfully and safely controlled in most people by diet. Diet can reduce the frequency of needing some form of intervention, but cannot completely remove the need for it in most people, since iron is a required component of a healthy diet. Reducing foods high in easily absorbed iron, and reducing things like vitamin C that help with iron uptake may help some people short term, particularly with some of the more mild cases, but should not be your sole method of remediation. I'm not really sure what you're getting at here. I don't think anyone has been "led to believe" anything untruthful about what kind of disorder hemochromatosis is. There isn't some vast conspiracy to keep patients in the dark and hide more effective treatments from them. Hemochromatosis isn't a "gastrointestinal disorder” any more than it is a "blood disorder". A combination of two genetic defects leads the duodenum to fail to stop absorbing iron when we have enough. This leads to a change in blood composition which leads to iron deposition in various organs which leads to gradual organ failure in those organs. Hemochromatosis affects every part of your body. The GI system is just one aspect of a complex disease. Making a claim that everyone gets told it's a blood disorder when actually it's a gastrointestinal disorder is just weird and wrong. I already knew all about hemochromatosis before my diagnosis, but even so, as soon as my primary care doctor saw my iron panel results, he pulled out his anatomy textbook, flipped to the GI page, and started his explanation of the disease by pointing out the duodenum. Nobody is trying to hide this aspect of the disease from anyone. As for treatment of hemochromatosis, the only thing that would actually cure it is gene therapy, and that technology just isn't there yet. Maybe someday we'll have a way to correct those two defective genes and "treat the root cause". Right now we don't. Right now the only thing you can do is break the destructive cycle of iron accumulation by routine iron depletion. Go get your phlebotomies done. No one is trying to hide some secret more effective treatment from you. Correct: it isn't a blood disorder, it's a metabolic issue in regards to excess iron absorption. With that said, many hematologists as well as gastroenterologists are qualified to work with patients with hemochromatosis. There is no cure of the "root cause" of the problem as of yet. I have heard some discussion around what a cure *might* look like (basically making an adjustment to the metabolic processes to help reduce iron absorption, but it seems pretty far away and given that well-managed HH carries basically no side effects, I don't see any rush to development taking place. Ultimately, phlebotomy is still the gold standard treatment in terms of proven effectiveness. Things like turmeric, drinking tea to reduce iron absorption, r-lipoic acid, and dietary changes are always discussed, but rarely have a significant enough impact, at least in studies thus far. Some people will swear by anecdotal evidence that it worked for them, but as a matter of actual studies to show effectiveness, there's not strong evidence that any of these methods will work for a given person. Essentially, if you could: * do 6 phlebotomies per year OR * completely alter your diet and take a bunch of pills and supplements every day to do 5 phlebotomies per year Which would you choose? Can't remember the exact quote someone told me, but it was something along the lines of "Eat what you want, eat what you need At the end of the day, be willing to bleed." The problem with HH is it binds iron into ferritin like there's going to be a run on it at the bank. You need free iron to live, so you can't just go iron free for the rest of your life, because then you get anemia and iron overload. You can make some changes in your life - I will never forget to, perfectly seasoned cast iron skillet that I had for years, and damn, I miss my daily cereal breakfast - but you still need iron. Think of it as the Price is Right diet. You want to get as close to your dietary need without going over. Certain food pairings are going to be right out. Steak and Red Wine is a rare treat for me now. OJ and bacon or sausage or pretty much any breakfast carb made with iron fortified floor is out. Milk can help lower the iron binding a bit, but not eliminate all the risk. On the positive side, I've lost weight since I'm reading the nutritional panel of everything, and discovered some uncomfortable truths, like the serving size for Pop Tarts is a single Pop Tart, and will take the place of your entire meal. Thank you for the information. Interesting. Thank you. Perhaps my confusion comes from being disallowed from donating blood (blood which to my knowledge is perfectly good) and that the duodenum is part of the gastrointestinal system. The latter probably ;) ^(I hate needles) > ike the serving size for Pop Tarts is a single Pop Tart, and will take the place of your entire meal. Ha, ha! That's a silver lining. Once you do your initial phlebotomies, to get your ferritin down to a manageable levels and maintain your ferritin levels at a low enough level you can avoid phlebotomies for years. I’ve had my ferritin down in the low teens and have been doing maybe one phlebotomy a year for the last five years the key is keeping your ferritin below 50 and not eating huge amounts of iron rich foods. There’s no getting out of having this disease/condition/disorder or whatever you label it as, once you’re diagnosed. It sucks that you can't donate blood - I was on a hold for a certain length of time due to traveling, but it wasn't a complete ban. If it's only a ban because of HH, try a regional blood bank. Ours loves it when I come in, because they use my iron rich blood for anemic patients. USA Red Cross is supposed to accept it, but it depends on if the person got the memo. This is an American red cross issue for not allowing donation. Other countries alow people with this disorder to donate. It's also a don't ask don't tell thing (aka go anyway), but you have to go to the regular doctor to know your iron levels. Depends where you live, and where you're getting your phlebotomies done. Most physician offices are not equipped to do the safety testing that a blood bank does before they put a pint of donated blood into circulation to be used by patients in need, or to properly store the blood. So they just discard it. You may be able to go get your phlebotomies done at a blood donation center instead. Depending on the country you live in and the policies of the donation center, they may be able to use it. I live in the Southeastern US and donate at a OneBlood center. They're happy to take and use my blood. The only issue they had at first was that their standard practice is to only let people donate every 8 weeks. Once I had my hematologist fill out and sign a form, they let me donate at whatever frequency the doctor indicated on the form (every 4 weeks for me). So you may have other options that allow your blood to be used instead of discarded. I am like you - I hate needles. And with the sheer amounts of blood tests getting diagnosed, treatments, and a major surgery last year, my left arm has become hard to find a good place to poke. So now I'm dealing with my right arm. I just ask them to put a cloth over it so I don't see it, as seeing my blood makes me pass out. (Other people? No problem. Have helped people who have gotten cut while on blood thinners control the bleeding. But see a needle and some blood on my arm and it's say goodnight Gracie) I'm a Christian, so I believe in miracles. :) I also believe in science and would never say that this might not just be my cross to bear, and accept that willingly. But I wouldn't rule out miracles either b/c, well...God. Just my perspective. Thank you for this info! I will try that. :) Well I’m firmly grounded in reality and I’m going to stick entirely with the science and not bank on fairy tales because well...science. Additionally, I said that I too believe in science. After all science is the study of nature and God created nature. ^(& the Church invented the scientific method.) EDIT: ^(downvoting doesn't make it less) ^t^^r^^^u^^^^e 😘 No need to be insulting. And the belief in the supernatural of s literally a rejection of science.. And repeating a lie doesn't make it true. While religion may once have been a force for good, more recently it's been a force against progress, fighting against science and ethics. Religion may have helped start science, but it's it did not invent it -- and it has been fighting it all along. It's actually [not](https://en.wikipedia.org/wiki/List_of_Catholic_clergy_scientists). It's quite pro-science, with some of the most advanced theories. There are still many religious scientists out and about -- it's just that the msm doesn't give them much attention, so you don't hear about them. - Big Bang theory? Catholic priest L'Maitre - folic acid developments - Catholic Endre Czeizel - history of science? Catholic priest Stanley Jaki - purified insulin - Catholic Peter Joseph Moloney The [list](https://en.wikipedia.org/wiki/List_of_lay_Catholic_scientists) goes on and on. Just don't let mainstream media know... As for ethics, the Church has long maintained that scientific advancements cannot contravene ethics. It's against the Frankenstein model which thinks anything goes, but believes that science must be balanced with human dignity. You are aware that there is a difference between scientists that are religious and a religion accepting science, right? How long did the catholics support geocentrism? Are you aware that 'exorcism' is still accepted by the catholic church as a way to treat mental illness and serious medical issues like epilepsy? The church still has not officially rejected \*EITHER\* of the versions of Genesis as literal truth! How is that 'pro-science'? ​ It's hard to blame the church for not being more pro-science, when you consider that the clear and obvious end result of better education and science is the reduction of power of the church.... ​ But, none of that is even relevant to my point -- which you did not actually refute, either. ​ You originally stated: \> & the Church invented the scientific method. ​ The scientific method was documented in various forms thousands of years BCE. Since you keep capitalizing 'church' and referring to catholic examples, even if you accept the catholic myth that their church was founded by jesus -- the scientific predates that church by about as many years as jesus predates you. ​ I pointed out that claiming that \*religion\* invented the scientific method was a lie in general (it cannot be proven with any reasonable certainty that the earliest examples we have found of the scientific method being used were religious based -- or that they were the first examples to exist) -- we \*CAN\* absolutely and specifically show that the scientific method was not created by 'the church'. Again, religion may have helped spread science at one point -- due to their monopoly on reading and writing (which may have actually slowed the spread!) and religion may occasionally \*use\* science and scientific methods, it's quite obvious and apparent that in modern times, religion is a drag on science -- not a booster for it. >As for ethics, the Church has long maintained that scientific advancements cannot contravene ethics. And yet -- the Catholic church, and other religions, have repeatedly taken actions contrary to ethics. Closing orphanages and adoption centers rather than risk putting a child in a loving home (that might just happen to have same sex parents). Anti-abortion, refusing to speak out against \*LITERAL\* Nazis, the abuse of donated funds, and, you know, the minor problem of refusing to assist in outing known pedophiles in it's ranks. Instead of cooperating with authorities and helping protect children and victims, it has committed the additional ethical problem of misusing donated funds to cover up crimes, protect offenders, and to assist in setting them up in positions they can re-offend. ​ If the Catholic church is supposed to be ethical, why is the official policy in canon law that it is \*WORSE TO REPORT A PEDOPHILE TO POLICE\* than it is \*TO BE A PRIEST THAT IS A PEDOPHILE\*? \> It's against the Frankenstein model which thinks anything goes, but believes that science must be balanced with human dignity. ​ Is that why they are against birth control, medically needed abortions, or any other scientifically backed idea that would improve human dignity -- pretty much universally? I'm sure that the slaves that were owned by Catholics -- including cardinals and bishops felt that their human dignity was 'balanced -- as were the Jews that were slaughtered in the Holocaust that the pope refused to make a stance against. ​ But -- why dig up ancient history? Take a look at one of the more recent saints -- I'm sure the poor and suffering felt 'dignified' as they suffered and died of \*TREATABLE AND CURABLE\* conditions -- because the nuns could not be bothered to treat them. I'm sure the lack of pain control made them feel 'dignity'. I'm sure that the refusal to even attempt to sterilize needless, which spread diseases, was nice and balanced -- as was the failure to quarantine TB patients, spreading this to many new people that \*COULD\* have survived (had they, you know, been treated with \*ACTUAL\* dignity...). I'm sure the Muslims and Hindus, and atheists, felt 'dignified' when, instead of showing them compassion while they were dying, they were baptized against their wishes. How did the catholic church react to this clear and obvious lack of ethical care? Made her a freaking saint. Well, this is factually wrong on many counts. Too many almost to go into. *Science* of course predates Christianity. Greeks, Arabs, others were practicing science in one form or another. But *scientific method* in a CODIFIED form, was indeed the product of the Church. You may not like this fact. But that does not cease making it a fact. And be that as it may, you are aware that even today science is ever-changing? In other words, truth is absolute, but our understanding of the truth is sometimes less than complete or absolute. What is considered scientific fact today is tomorrow's newly-discovered "whoopsie". Science develops in the sense that people learn more accurately the truth of something. Sometimes one thing people took for truth, turns out to have an entirely different cause altogether. Once again, there are almost too many lies in here to refute. There is a popular narrative out there about all of these things, and it is clear to me that rather than researching and investigating the truth (**which would actually be the scientific thing to do**), you are content to swallow this narrative hook, line, and sinker. > birth control, ~~medically needed~~ abortions That's because these things are against human dignity and nature. [POST TITLE]: DO THESE RESULTS INDICATE HEMOCHROMATOSIS? [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] You need to have your ferritin level tested to get a better picture. 30F. Had my iron tested by my endocrinologist (after a subclinical hypothyroidism diagnosis) due to hairloss & fatigue. I’ve been taking meds for that and gotten my levels pretty good but am still having a lot of fatigue so I’m wondering if my iron has anything to do with it. I was surprised by high iron because I don’t take any supplements with iron or eat meat. Thanks for any help! Talk with a doctor, but those numbers are not that high. My husband was well over 600 when he was diagnosed. Do you eat a lot of dark leafy veggies? If I got those results, I would go get my ferritin tested ASAP. See if you can do the genetic test as well as that will be the next step if you have elevated Ferritin. I had my ferritin tested about 4 years ago and it came back normal. Is hemachromatosis something that can occur later on or would my ferritin levels always have been high? Thanks for your help. There is no ferritin level in that picture - I thought the first bar was ferritin too at first. Couple things 1. Hemochromatosis (Hemo) just means high iron in your body (typically stored in your organs). It can be hereditary (HH), or due to environmental exposure to iron, or due to something your body is doing due for other than non-hereditary reasons. 2. Ferritin is an indicator of your body's iron stores in your organs. High iron levels in your organ is what will cause organ damage. This is why it is good to have your ferritin checked and it is main indicator of hemo. 3. The results you posted above generally indicated blood iron levels. 4. The graphics above are misleading and should not be used, but they are. If you are even slightly high or low, it locates the red arrow all they way in the middle of the gray area, making it look like you are far out of range. 5. You female and younger so even if you had HH, your monthly cycle would keep your ferritin levels in range (usually). For you, if you had HH, your ferritin levels would likely rise after menopause. 6. Some people have high blood iron levels even though the ferritin is fine. Could just be the body's natural way of absorbing and transporting iron or something else. I don't know. 7. I would get your ferritin checks because I would be more concerned about low ferritin levels with your fatigue and you not eating meat and not supplementing iron. My aunt went no meat and became anemic. That being said, the other likely issues for fatigue is your thyroid issue. It can be hard to get the med correct and fatigue and thyroid issues go hand in hand. Because your blood iron levels are high, you could have HH, but the way to really know is to have a genetic test. You should also get your ferritin checked - good practice for everyone. Until you do these tests, you really don't know and I would be speculating. Oh good catch. Damn mobile tiny screen. [POST TITLE]: MY FAMILY HAS A LONG HISTORY OF MUSCULAR DYSTROPHY AND I'M WORRIED [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] What type of MD runs in your family, and where does it run in your family? This can all help get an idea. Some forms are barely noticeable in some people, like Becker's not being diagnosed into their 60s. If it's Duchenne, you'll almost certainly know before you were able to ask this question. It does depend on the type of MD. I have myotonic muscular dystrophy and didn't realize it until my brother was diagnosed with it in his adult life, and I had similar symptoms, although he was much worse. I didn't notice my symptoms until I was in my 30s, although I had earlier ones that I didn't attribute to the MD. In hindsight, we realize it was my father that had the mutated gene. Myotonic Dystrophy gets worse with each generation, and if one of the parents has it, there is a 50/50 chance of the children having it. There are no carriers per se, just milder symptoms. Similar to FSHD. My teen son was diagnosed young and has very noticeable symptoms. Hubby was diagnosed thereafter at 48 which explains his odd build and chronic discomfort. Progression, severity, and age of onset all differ. Live a happy life with what you got? Dont fear death itll come for everyone anyway I had a brother who was diagnosed at 18 with supposedly LGMD, but they were never really sure. Anyway, he died at 45 from complications of the muscular dystrophy. I’m now 48, could it be possible for me to get it at this late age? It's my mom's side. Currently, none of my siblings have it. It's affected my mom's siblings. Hm in that case, I think it is Becker's and not Duchenne, as I have not been diagnosed with anything yet. Thank you - I'll have to look into Becker's. Becker's can vary widely in how it presents. It's relatively uncommon in the world of MD, Duchenne being the most common. However, they're both X-linked recessive ([https://en.wikipedia.org/wiki/X-linked\_recessive\_inheritance#/media/File:X-linked\_recessive.svg](https://en.wikipedia.org/wiki/X-linked_recessive_inheritance#/media/File:X-linked_recessive.svg)). If it's on your mom's side, we'd still need to know more. It's typically carried by females, and if they are a carrier, they have a 50/50 chance of passing it on to offspring. So it becomes important to start tracing. I'm not sure what country you're in, but if it's available (either free or at a cost you can afford) you should consider genetic testing for at least yourself, but potentially your mother and her siblings, her mother and any of her siblings. With Duchenne, a very simple blood test called a CK (creatine-kinase) test can almost be used as a diagnosis. In Becker's I don't believe it would be that clear. In our case (2 boys with Duchenne), we first found out when my wife's sister's second child was diagnosed with DMD. When I heard this, and did the research, I realized that if she was a carrier, there was a chance my wife was also a carrier. With Duchenne's, roughly 1/3 cases are spontaneous birth defects. The other 2/3 cases originate from a carrier mother. Turns out my wife is a carrier, and as it turns out, so is her mother (not surprising when her 2 daughters are carriers). There was one son there as well, but lucky for him he was not affected, though he had a 50/50 chance of getting the defective gene. My mother-in-law's mother passed away years before the diagnosis so she couldn't be tested. My mother-in-law has one sister, who has refused testing which is unfortunate because she has two daughters, both in their child bearing years, one with a very young child or two (we're not close with them). So the while the disease will halt with our children on this side, it could be continuing on that side of the family. ​ Thus my recommendation for genetic testing. If available a genetic counselor can help determine who should be tested. [POST TITLE]: NEVER BEEN A BIG DRINKER, NOW MIGHT NEED TO CUT DOWN EVEN MORE, IRRATIONALLY ANGRY [ALL COMMENTS] [All top-level comments, then second-level comments and so on until there are no comments left] Instead of being angry why not change the narrative? Maybe be thankful that you found out about your medical issue before alcohol did any damage. Many people have medical issues that make them not be able to have certain things. Diabetics can not have sugar and it is not their fault. Some can not digest protein so they have to be on a special diet for life but they did nothing to cause this. There are kids born with a condition makes them not to be able to go out in the sun or their skin gets blistered. They have to live their whole life indoors. They did not cause this. There are many more examples I could name but no one asks for any kind of medical issue, they just deal with the cards that are dealt to them. IWNDWYT Hi this is somewhat relatable to me I have celiac disease and can’t eat gluten (in wheat barley and rye.) however I was happy to find out what was wrong with me and start to feel better. Being drunk is a lot less fun than it looks. FWIW. I’ve had other disadvantages that HAVE made me curse my genetic lot. This whole “luck of the draw” thing can be annoying! IWNDWYT Help me understand. You maybe have 1 drink every 2 weeks...and then an event where you have 3-5 every two years? With no intention to dismiss your feelings, it sounds awfully infrequent to mourn it's loss. Something that I *may* have once every two weeks is likely something I forget all about unless it's served to me. Correct me if I am off base, but I'm wondering if your anger lies within having a disorder that impacts your liver (through presumably no fault of your own) while an entire community of people knowingly destroy theirs with potentially little permanent consequence? Edit: I re-read and forgive me. You explained yourself well. Yeah...I'd never dismiss your anger to tell you to feel differently. Only to maybe try and not stay in that place too long. Feel your anger, let it out, and see if you can move forward. Your affliction is physical and under medical guidance, hopefully manageable. Alcoholism, while largely psychological, is a tricky monster to beat.