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Living with leber hereditary optic neuropathy: Exploring experiences and perceptions of a disruptive mitochondrial condition

Harper, Lydia 2018. Living with leber hereditary optic neuropathy: Exploring experiences and perceptions of a disruptive mitochondrial condition. PhD Thesis, Cardiff University.
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This thesis explores the experiences and perceptions of people living with Leber hereditary optic neuropathy (LHON) and the healthcare professionals charged with diagnosing and treating the condition. LHON is the first disease linked to a mitochondrial mutation, characteristically resulting in bilateral sight loss over a period of 6‒12 weeks from the initial onset and predominantly (but not exclusively) affecting young men in their teens and early twenties. As with other mitochondrial conditions, there is currently no cure for LHON, and treatment options to slow the progress of the condition are limited. Qualitative research exploring the effect of LHON following a sudden and dramatic loss of sight has been absent from the literature. Addressing this gap, my study involves: (1) semi-structured interviews (N=41) with affected men and women, mothers who carry the condition, and genetic ophthalmologists; (2) participant observation over a period of nine months in two genetic ophthalmology clinics located in UK hospitals. Drawing upon key theoretical and empirical contributions from medical sociology and beyond, such as the work of Bury (1982) and Charmaz (1983), I explore the past, present and future lives of people with LHON by describing their chronic illness trajectory. Drawing predominantly on the interview data, I document their experience of the initial symptoms of sight loss, the challenges of receiving a formal diagnosis (as an uncertain, contested and often misdiagnosed condition), the aftermath of receiving a genetic diagnosis for participants and their wider family, and the disruption to everyday, mundane moments in people’s daily lives. Moreover, I unpack how people restore their former self-images (Charmaz 1987, 1991), gain control over their lives, and regain some sense of ‘normality’ (Davis 1995), whilst also reflecting on future aspirations with respect to treatment options and reproductive imaginaries. To conclude, I acknowledge how my thesis contributes to knowledge by uncovering the multi-faceted experience of people living with sudden bilateral sight loss—a group who have, thus far, been invisible in the sociological literature.

Item Type: Thesis (PhD)
Date Type: Completion
Status: Unpublished
Schools: Social Sciences (Includes Criminology and Education)
Subjects: H Social Sciences > H Social Sciences (General)
Funders: ESRC
Date of First Compliant Deposit: 6 March 2019
Last Modified: 15 Oct 2021 15:20

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