Background: Duchenne Muscular Dystrophy (DMD) is a severe, progressive neuromuscular disease characterised by progressive muscle degeneration. While the clinical trajectory of DMD is well-documented, there remains a significant gap in understanding the illness from the first-person perspective of those living with the condition. Much of the existing qualitative evidence is derived from caregiver reports, leaving the nuanced, subjective experiences of patients themselves underexplored. A deeper understanding of the patient’s lived experience is crucial for developing truly patient-centred care models and support systems.
Objectives: This study aimed to explore the lived experience of DMD from the patient’s viewpoint. The primary objectives were to: (1) understand the psychosocial and emotional impact of progressive physical decline; (2) identify key challenges and adaptations in daily life and social participation; and (3) elucidate the process of coping and finding meaning across different stages of the disease.
Results: Thematic analysis revealed four major themes: (1) Progressive physical decline and functional limitations encompassing muscle weakness, mobility challenges, and fatigue; (2) Psychosocial adaptation and emotional impact including anxiety, worry, and resilience development; (3) Social participation barriers and relationship changes due to physical limitations and disease stigma; and (4) Healthcare experiences and support needs involving access to care, communication with providers, and unmet service requirements. Despite these challenges, patients demonstrated adaptive coping through finding meaning and maintaining social connections.
Conclusions: The experience of DMD is a complex, ongoing process of navigating physical losses, social barriers, and emotional adaptation. The findings underscore that psychosocial well-being is as critical as physical management. Healthcare interventions must look beyond physical symptoms to address the holistic needs of individuals with DMD. This includes facilitating social inclusion, providing psychological support to navigate grief and build resilience, and fostering environments that promote autonomy. Future research should develop interventions aimed at supporting the emotional and social health of individuals with DMD throughout their life course.