Uncertain existence :the reproductive decision-making of women with mitochondrial disease

Abstract

The aim of this thesis was to understand the process of reproductive decisionmaking in women with maternally inherited mitochondrial disease. It demonstrates the uncertainty fundamental to the experiences of women with mitochondrial DNA mutations (a subsection of women with mitochondrial disease). This uncertainty manifests in the personal accounts of their condition, as well as in relation to their reproductive decision-making. Twenty semi-structured qualitative interviews were conducted with eighteen women with mitochondrial DNA mutations, sampled via their connection to a mitochondrial disease specialist service in North East England. Retrospective, prospective and hypothetical questions were utilised in data collection. The data generated from the study, which was informed by constructivist grounded theory, can be organised into two central areas, both of which can be related back to uncertainty. The first area relates to how women harbour the desire for a healthy biologically related child. The second area features decision-making, which within the context of maternally inherited mitochondrial disease, is essentially the process by which women consolidate their desires for healthy children, and how they negotiate risk. The women’s accounts highlight social aspects of uncertainty that features in their reproductive decision-making, in contrast to the current literature that focuses on more clinical aspects of uncertainty. In addition, they also demonstrate how educational and employment institutions struggle to manage the uncertainty inherent in mitochondrial disease. An important outcome of this thesis, therefore, has been the adaptation of a sociological conceptual model to address this inconsistency. The model can be utilised by clinicians in discussions with women to comprehensively explore the process of decision-making in the face of uncertainty. This thesis demonstrates how the decision-making process is necessarily social, and highlights the importance of sociological understanding of uncertainty in the mitochondrial disease reproductive advice clinic.