Congenital myopathies in adult patients: lived experiences and coping mechanisms

PURPOSE: To study the impact of congenital myopathies in adult patients' lives and their coping mechanisms to live a fulfilling life, in an era with no treatments on the horizon. METHODS: We conducted a qualitative study with semi-structured interviews among Dutch adult patients with congenital myopathies, exploring their experiences of living with the condition. Data from the interviews were analysed through open coding and thematic analysis using Atlas.ti version 24.0.0. RESULTS: Sixteen adult patients (50% females; age range of 26-72 years) were interviewed during January-April 2024. Six main themes were identified: disease management, self-management, personal development, social participation, support, and illness acceptance. Coping strategies were related to aspects of the disease, personal traits of patients and their social environment. CONCLUSION: This study provided a comprehensive perspective going beyond physical functioning, that also considered personal, social, and environmental factors that are crucial for coping with the disease and understanding its impact. These experiences offer valuable insights for clinicians, patients and family members, helping to support patients in finding fulfilment in life.