The MitoPlan Project: insights on supporting people with rare diseases to access generalist healthcare

Rare disease specialist services offer high quality care but among generalist services (e.g., GPs, physios, psychologists) it is difficult to find health professionals familiar with specific rare conditions. Uncertainty around best management approaches in this setting can result in no action, inappropriate action, or trial-and-error approaches, potentially leading to disease progression or harm.
Our previous work with people with mitochondrial disorders (“mito”) from across Australia showed that outside of specialist services, care was fragmented and often of poor quality. Appropriate management advice on day-to-day things such as appropriate diet, whether supplements might help, and how to manage fatigue, was needed and valued but seldom received in generalist settings. The provision of a formal diagnosis letter for generalist health professionals facilitated access to reputable information sources such as Orphanet. The 2022 Mito Community Survey reinforced these unmet needs: 75% of respondents with diagnosed mito lacked general management plans, and many lacked access to advice on diet (64%) or exercise (48%).
Here, we present preliminary findings from our project, co-producing and piloting consumer-held general management plan templates for adults with mito. These plans can be tailored to individual needs and will support adults with mito to self-manage their conditions and navigate mito-appropriate generalist healthcare while informing implementation strategies for broader adoption.
We conducted extensive background work, with preliminary findings suggesting significant gaps in this area of consumer resources. Our systematic review found no peer-reviewed empirical evidence on consumer-held general management plans for rare diseases and little for higher prevalence diseases. This implies an ad hoc approach to developing resources and little rigorous evaluation. Moreover, in the rare disease field many clinical groups had developed educational resources or self-management apps but the majority were generic and not able to be tailored.
These findings underscore the importance of co-designing general management care plans tailored for the individual needs of people living with rare diseases and the need for evaluation. While our specific focus is mito there are broader implications for people with rare conditions who access generalist healthcare.