Objectives

Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disorder characterised by progressive muscle degeneration and weakness. Loss of muscle function starts early and worsens over time, resulting in loss of motor function and premature death. Individuals with DMD can require 24-hour care, but little is known about the extent to which this impacts the lives of their caregivers. This study explored the impact of caring for an individual with nonsense mutation DMD (nmDMD) before complete loss of ambulation.

Methods

Qualitative interviews were conducted with caregivers of individuals with nmDMD treated with ataluren in the UK. An interview guide was developed with input from clinical experts and patient advocacy groups and included open-ended questions to elicit information on the impact of caring for an ambulatory individual with nmDMD. Interviews were conducted by telephone, recorded and transcribed. Data were analysed using thematic analysis and saturation was recorded. A conceptual model was developed to illustrate the reported caregiver experiences based on the data.

Results

Ten interviews were conducted with parents of individuals with nmDMD aged 4-19 years at various stages of ambulation. Caregivers reported both proximal and distal impacts. Proximal impacts were physical (e.g. lifting their child), emotional (e.g. anxiety/worry/stress) and time-related (e.g. administrative tasks). These were associated with a range of more distal impacts including the impact on work (e.g. time off work due to back pain), relationships (e.g. with partner) and social life. These impacts and relationships between them were illustrated in a conceptual model.

Conclusions

Caring for an individual with nmDMD has a substantial multifaceted impact on the lives of caregivers and those around them. Treatments for individuals with nmDMD which have the potential to improve symptoms, reduce loss of function, or delay progression, may also have a positive impact on the quality of life of caregivers.