Primary mitochondrial disease in the US: Data from patients and physicians' perspective on health care delivery

This article presents data that examine the patient's perception of health care delivery for mitochondrial disease in the US. It also presents the opinions of mitochondrial disease expert physicians about creating a specialised network of clinics to oversee the care of patients with this disease within the US. Two separate electronic surveys were developed; one for mitochondrial disease patients and their families ascertaining their satisfaction with their current health care and the challenges they face. The other for the physicians group assessing the usefulness, feasibility and readiness to develop specialized care clinics for mitochondrial disease in the US. Survey responses and descriptive analysis are presented here. The data in this article is supplemental, and supports the information presented in the research article “Harmonizing care for rare diseases: How we developed the mitochondrial care network in the United States.” Karaa et al., 2019


Data
The data set presented includes survey responses from 1) patients with self-reported mitochondrial disease (MD) and their caregivers and 2) US physicians, these are physicians expert in mitochondrial diseases, practicing within the United States. Table 1 Table 1 with the number of responses (N) and the percentage of the responses to each specific question presented on the right, last 2 columns. The open-ended responses to the last question are presented in Table 2. Table 3 represents responses to the 11 questions (left column) asked of US physicians about the importance of establishing a specific MD health care network [1]. The answers from the 44 responding physicians are presented in the middle column with the number of respondents (N) and the percentage of each specific response to each question (right columns).

Experimental design, materials, and methods
Information from 2 electronic survey instruments were obtained from 1) patients with mitochondrial disease (MD) and their caregivers and 2) US physicians, experts in mitochondrial diseases.

Survey design
The survey instrument was intended for patients with MD and their family members or caregivers. A total of 14 multiple-choice and open-ended questions were developed to capture MD duration since diagnosis, relationship of patients and their families with their health care providers, communication within the health care team and limitations of care delivery. The questions were inspired by several discussions with patients and families and hearing about their concerns conveyed through MD Specifications Table   Subject Health Specific subject area Health care delivery for rare disease. Type of data Value of the Data This data provides a first look at the patients and physicians' perception of care delivery for primary mitochondrial disease in the US and the challenges they face. Health care providers and practice managers will find this data very useful in better understanding the health care gaps within their institutions. These data are the first step to identify the challenges and the gaps in health care delivery for mitochondrial disease in the US and will serve as road map to improve those challenges and fill those gaps [1].
A. Karaa et al. / Data in brief 25 (2019) 104343 advocacy groups representatives who interact with these patients continuously and from treating physicians managing these patients in clinic.

Participants and recruitment
The survey was administered electronically through MitoAction; a MD patient advocacy group, email list server. These are self-reported MD subjects who agreed to receive news and study notifications from MitoAction. The survey was sent to 360 subjects and responses were obtained from 243 subjects (67.5% response rate) with complete answers (Supplemental Table 1).

Statistical analysis
Descriptive statistics were used. All raw data was obtained from self-response queries entered by participants.

Survey design
After review of the patients' survey responses, evaluation amongst the Mitochondrial Medicine Society (MMS) board members and informal discussions with several national mitochondrial disease colleagues across the US led to the creation of a second survey. The MMS is a non-profit, physician-led organization which develops medical and clinical guidelines for the diagnosis and treatment of MD. The physician survey contained 11 multiple-choice and open-ended questions to assess the interest of US MD physicians in establishing MD care centers. The survey specifically asked about how they thought such a center would function within their own specific health care system and how differing their "wish list" for such a center would be when compared to that of the patients and their caregivers (Supplemental Table 2).

Participants and recruitment
The survey was sent by email to the MMS membership of more than 200 physicians and requested that only US physicians participate. Answers from 44 respondents was received.

Statistical analysis
Descriptive statistics were used. All raw data was obtained from self-response queries entered by participants. Table 2 Selected open-ended responses from the patients' perspective survey.

Negative outcome from lack of communication and joint decision making between doctors taking care of MD patient (open ended question)
Unnecessary appointments with doctors who did not understand MD. My MD specialist is a researcher and rarely gets involved in the management of mitochondrial disease. Lack of continuity of care by seeing different doctors in a practice/academic center Doctors on my team can't agree on the cause of my symptoms and no one wants to take responsibility or take ownership of my management. Have had multiple instances of meds being prescribed by one specialist to manage specific symptoms, only to have another type of specialist tell us the med is detrimental to my son's health. My PCP/local doctors refuse to follow the orders of my out of state MD doctor We have more knowledge about MD than our doctors. Our frustration is that we manage the care between each of our specialists. This has been a great stress, never knowing if we are doing all that we should be for our son and what impact that is having on his progression. It is very difficult to coordinate care by myself -I am a single parent and am trying to hold a full-time job in addition to spending hours coordinating care for my daughter. My PCP doesn't know anything about MD so she just does what he says to do. It would be great if all PCP were trained in MD. Yes, my child has been prescribed treatments by the MD specialist that the PCP did not know about or understand. The PCP has also been forced to care for my child in ways she feels are "over her head." As a result, the PCP cannot defend care decisions for my child when other doctors ignorant of my child's needs criticize or challenge them. It is like being in the middle of the ocean alone … a very hopeless feeling. It makes me feel very alone. I am forced to treat myself and hope for the best. It has delayed care. Lack of coordinated care has resulted in it taking years to receive treatment where it should have taken weeks. I, have been in the middle of two specialists battling over a health decision for my child on more than one occasion. It leads me to not trust one of my child's doctors, to feel I have to choose sides. It leads to much added worry and stress! Managing my child's health is a full-time job. Walking on eggshells with unsympathetic/disinterested medical professionals while my child is in pain. Often, I hear that we are too complex, and they try to get someone else to take on the care. However, there isn't really someone else to go to. It has created lot of anxiety during critical times. I see a different specialist every time I have an appointment, I have to explain my condition to them over and over as they don't know what it is, its symptoms, or how it should be treated. As a patient, it's like being a diplomat negotiating a peace treaty between my doctors.
A. Karaa et al. / Data in brief 25 (2019) 104343  Child Advocacy team for complicated social issues I think this is a bad idea. This issue will drain our energy. Periodic webinars or conferences to teach providers who will be seeing patients on a local level Rigid requirements for centers will insure that there are very few centers. A certain number of exceptions is needed. In particular, specific allowances should be made, such as children's hospitals are permitted to have cut off ages of 21 or older. There is little incentive for institutions to provide the missing requirements since Mitochondrial Medicine loses money, so I doubt that MMS set standards will result in an increase in the quality of care provided by any institution. Perversely, standards may further limit access. Finding ways to make the field economically viable is the only way to improve care, and even to keep what little we have. Good Mito care is expensive. However, society pays for ICU care and neurosurgery, which are even more expensive. Theoretically, what we provide should also by recognized as valuable and appropriately reimbursed. Until we find a way to get here, care for MD patients will remain severely restricted.