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

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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01939-6.