Abstract
BackgroundDuchenne muscular dystrophy is a rare genetic neuromuscular disorder, which can result in early death due to disease progression. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall.MethodsQualitative interviews were conducted with caregivers in the UK. Interviews were conducted by telephone, were recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded.ResultsTen interviews were conducted with parents of individuals aged 4–19 years. Caregivers reported proximal impacts (physical, emotional, time-related), and distal impacts (work, relationships, social life) of caring for their sons. The relationships between these impacts were illustrated in a conceptual model. Changes to the caregiver experience since initiation with their son’s treatment were discussed.ConclusionCaring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy has a substantial multifaceted impact on caregivers. Treatments which have the potential to improve symptoms or delay progression, may also have a positive impact on the quality of life of caregivers.
Highlights
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder characterised by progressive muscle degeneration [1]
This study explored the impacts and challenges experienced by caregivers of ambulatory individuals with nonsense mutation on the DMD gene (nmDMD), as well as the impact of their son’s treatment with ataluren
Design and participants This was a cross-sectional qualitative interview study with caregivers of ambulatory individuals with nmDMD treated with ataluren in the United Kingdom
Summary
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disorder characterised by progressive muscle degeneration [1]. It leads to delayed motor milestones, typically progressing to loss of ambulation at approximately 12 years of age, followed by severe cardiac and respiratory complications [1, 2]. Ataluren is indicated for the treatment of nonsense mutation Duchenne muscular dystrophy, in ambulatory individuals aged two years and older. This study explored the impact of caring for an ambulatory individual with nonsense mutation Duchenne muscular dystrophy, as well as the impact of treatment with ataluren on the caregiver experience, using retrospective recall
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