Version 1
: Received: 12 April 2024 / Approved: 15 April 2024 / Online: 16 April 2024 (03:41:30 CEST)
How to cite:
Heath, O.; Hammerl, E.; Spitzinger, A.; Wortmann, S.B. Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Preprints2024, 2024041003. https://doi.org/10.20944/preprints202404.1003.v1
Heath, O.; Hammerl, E.; Spitzinger, A.; Wortmann, S.B. Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Preprints 2024, 2024041003. https://doi.org/10.20944/preprints202404.1003.v1
Heath, O.; Hammerl, E.; Spitzinger, A.; Wortmann, S.B. Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Preprints2024, 2024041003. https://doi.org/10.20944/preprints202404.1003.v1
APA Style
Heath, O., Hammerl, E., Spitzinger, A., & Wortmann, S.B. (2024). Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children. Preprints. https://doi.org/10.20944/preprints202404.1003.v1
Chicago/Turabian Style
Heath, O., Anna Spitzinger and Saskia B. Wortmann. 2024 "Ending an Odyssey? The Psychosocial Experiences of Parents after the Genetic Diagnosis of a Mitochondrial Disease in Children" Preprints. https://doi.org/10.20944/preprints202404.1003.v1
Abstract
Obtaining a genetic diagnosis of a primary mitochondrial disease (PMD) is often framed as a diagnostic odyssey. Yet, even after receiving a diagnosis, parents of affected children experience ongoing therapeutic and prognostic uncertainty, and considerable psychosocial challenges. Semi-structured interviews (N= 24) were conducted with parents of 13 children (aged 2-19 years) with a genetically confirmed PMD. Paternal (N=11) and maternal (N=13) perspectives were obtained, and thematic analysis performed on all interviews. A genetic diagnosis was valuable and empowering for parents, despite eliciting varied emotional responses. While the diagnosis helped focus management decisions, families often felt overwhelmed and unsupported in navigating the healthcare system. Most parents reported a serious impact on their romantic relationship. The sources of social support varied with a preference for established friendship and family support networks over disease-specific community support groups. Most parents favored prenatal genetic testing in the event of a future pregnancy. This study provides insight into the lived experiences of parents after a genetic diagnosis of PMD in their children. The findings draw awareness to supportive care needs and highlight important gaps that should be addressed to ensure that parents feel supported within a holistic framework of management for PMDs.
Keywords
Mitochondrial diseases; genetic diagnosis; value of a diagnosis; diagnostic odyssey; parental attitudes
Subject
Medicine and Pharmacology, Clinical Medicine
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
