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

Rebecca Dimond

doi:10.1186/2195-7819-9-2

Abstract

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.

Highlights

This research has taken place within an evolving landscape of genetic medicine
Vital questions remain about how mitochondrial disease is experienced, measured and communicated, including how mutation ratio combines with experience to provide estimations of risk and projections of the future, how normative decisions are made about acceptable levels of mitochondrial mutation and how the boundaries between normal and pathological are negotiated by both patients, families and health professionals
The extensive interest in mitochondria donation shown by policy-makers, interest groups and the media highlight the significant challenge to existing legal and ethical frameworks

Summary

Introduction

This research has taken place within an evolving landscape of genetic medicine. IVF techniques preventing the transmission of mitochondrial disease from mother to child provide a technological solution to a disease with no cure and extremely limited treatment. In contrast to the extensive interest in the ethical challenges presented by mitochondrial donation, the impact of the disease on patients and families, the adult experience of disease, has attracted much less attention and reflection.

Results

Conclusion