Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children

• DOI: 10.20944/preprints202404.1003.v1
• Publication Date: 2024-04-18T10:55:13Z
• Authors: Oliver Heath; Emma Hammerl; Anna Spitzinger; Saskia B. Wortmann
• Keywords: Mitochondrial disease

Obtaining a genetic diagnosis of primary mitochondrial disease (PMD) is often framed as diagnostic odyssey. Yet, even after receiving diagnosis, parents affected children experience ongoing therapeutic and prognostic uncertainty, considerable psychosocial challenges. Semi-structured interviews (N= 24) were conducted with 13 (aged 2-19 years) genetically confirmed PMD. Paternal (N=11) maternal (N=13) perspectives obtained, thematic analysis performed on all interviews. A was valuable empowering for parents, despite eliciting varied emotional responses. While the helped focus management decisions, families felt overwhelmed unsupported in navigating healthcare system. Most reported serious impact their romantic relationship. The sources social support preference established friendship family networks over disease-specific community groups. favored prenatal testing event future pregnancy. This study provides insight into lived experiences PMD children. findings draw awareness to supportive care needs highlight important gaps that should be addressed ensure feel supported within holistic framework PMDs.