Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease

Primary mitochondrial disease (PMD) encompasses a heterogeneous group of energy deficiency disorders that are typically progressive, with affected individuals experiencing an average of 16 multisystem symptoms. Clinical trials are emerging, but current treatment options remain limited. In PMD, the effect of specific disease factors and their relationship to meaning-based coping has not been studied. Given the connection between prognostic uncertainty and psychological distress in other patient populations, we explored the lived experience of adults with PMD. Adults with PMD caused by pathogenic variant(s) in nuclear or mitochondrial genes impairing mitochondrial function were interviewed. Interview questions addressed the lived experience with PMD, diagnostic journey, practical learnings at the time of diagnosis, suggestions for supportive information to provide at diagnosis, diagnosis impact on daily living and self-care, and sources of support and hope. Focus group transcripts were analyzed using thematic analysis. Four themes (diagnostic challenges, adaptations to daily living, social implications, and meaning-based coping) and several subthemes (the importance of being hopeful and benefit finding) emerged. Most participants reported strong family support (9/14) and identified a benefit (9/14) derived from their PMD diagnosis, while (5/14) did not identify any benefits. Benefit finding, reframing, and maintaining a positive attitude emerged as common coping in adults living with PMD. Understanding how adults with PMD cope is essential to provide anticipatory guidance and ongoing support for those struggling with their disease diagnosis, progression, and broader life impact. Our findings suggest that adult PMD patients prefer healthcare providers to inquire about their emotional well-being and meaning based coping with PMD.