The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis

Abstract

Background The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondrial respiratory chain disorder (MRCD) in the management of their disease. The work complements ongoing projects around implementation of consensus recommendations for management of people with MRCD. People with or caring for a child with a formally diagnosed MRCD were invited to take part in an hour-long focus group held via videoconference. Questions elicited experiences of receiving management advice or information specific to their MRCD in four areas drawn from the consensus recommendations: diet and supplements, exercise, access to social services, and mental health. Sessions were audio-recorded, transcribed and analysed using a combination of inductive and deductive coding. Results Focus groups were conducted with 20 participants from five Australian states in June–September 2020. Fourteen adults with a MRCD (three of whom also had a child with a MRCD), and six who cared for a child with a MRCD took part. The overarching finding was that of the need for ongoing negotiation to access the advice and service required to manage their condition. The nature of these negotiations varied across contexts but mostly related to joint decision-making, and more commonly, the need to advocate for their care with non-specialist services (e.g., dieticians, schools). The effort required for this self-advocacy was a prominent theme. While most participants reported receiving adequate advice around supplements, and to a lesser extent diet and exercise, the majority reported no formal advice around mental health or practical assistance accessing social services. Conclusion These focus groups have revealed several gaps in the system for people with a MRCD, interacting with care providers after diagnosis. Focus group participants had to negotiate with a range of different stakeholders in order to secure appropriate advice or services. Notable was the gap in appropriate generalist services (e.g., dieticians) with sufficient knowledge of MRCD to support people with their day-to-day challenges.

Living with a genetic, undiagnosed or rare disease: A longitudinal journalling study through the COVID‐19 pandemic

“…Before the pandemic, this population was accustomed to overcoming challenges in accessing care and in day‐to‐day life. 38 As such, this community, both carers and people with GUaRD, was experienced in resilience and therefore we adopted this lens to interrogate the journals.…”

Needs of people with rare diseases that can be supported by electronic resources: a scoping review

“… 23 37 While the burden of disease for rare disorders may be similar to higher incidence conditions such as stroke or breast cancer, the added burden of the lack of a solid evidence base of effective treatments, best practice guidelines and competent and knowledgeable health service providers is not. The well-documented diagnostic odyssey for people with rare diseases 3 and laments that health professionals had never heard of their disease 4 is a burden unique to this group.…”

“…[9][10][11] Access to appropriate specialist services, finding a generalist health provider who is willing to learn about the condition, living with uncertainty of what is best practice, and the trial and error nature of discovering it have all been reported. 4 Electronic resources, by which we mean mobile applications, websites, virtual monitoring devices, social media platforms, telehealth capability and online portals, hold promise of greater connectivity and collaboration in the field of rare diseases. Electronic resources are already being used to improve understandings of rare diseases as national and international online registries, 12 13 and virtual research consortiums 14 15 pool their data and consolidate findings.…”

“… 3 The case has been made that even after this odyssey is concluded with a definitive diagnosis, the journey continues as people with a rare disease seek to access the best management care. 4 …”

Mobile Apps for People With Rare Diseases: Review and Quality Assessment Using Mobile App Rating Scale

“…Efforts to provide high-quality care are hampered by scarce research and medical knowledge (with sample sizes too low to run clinical trials for any individual disease), limited treatment options, and a lack of standardized guidelines for clinical management. For many rare diseases, health professionals may only see one case during their entire career [ 14 ].…”