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Patient and family trajectories of mitochondrial disease: diversity, uncertainty and genetic risk

Dimond, Rebecca ORCID: 2013. Patient and family trajectories of mitochondrial disease: diversity, uncertainty and genetic risk. Life Sciences, Society and Policy 9 (1) , 2. 10.1186/2195-7819-9-2

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Mitochondrial disease can be a devastating, degenerative illness, with limited treatment and no cure. Novel reproductive techniques involving mitochondria donation present an opportunity for women with mitochondrial disease to prevent the transmission of disease to her offspring. Current IVF techniques, such as pre-implantation genetic diagnosis, reduce but do not eliminate the risk for the child. However, knowledge of the contexts within which this disease is experienced and reproductive decisions are made is limited. This article draws on qualitative interviews with adult patients to explore the practical realities of living with mitochondrial disease. Three key themes were identified; the personal and familial experiences of illness, age and generation as factors in shaping patient experience and the importance of experiential knowledge in making sense of reproductive choice. Overall, this article identifies potential barriers to patients accessing reproductive technologies highlighting how the complex nature and uncertain trajectory of mitochondrial disease poses considerable challenges for patients, practitioners and policy makers.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Social Sciences (Includes Criminology and Education)
Subjects: H Social Sciences > H Social Sciences (General)
Q Science > QH Natural history > QH426 Genetics
R Medicine > RA Public aspects of medicine
Publisher: Springer
ISSN: 2195-7819
Date of First Compliant Deposit: 30 March 2016
Last Modified: 13 May 2023 14:47

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