The lived experience of facioscapulohumeral muscular dystrophy: A systematic review and synthesis of the qualitative literature

Introduction In this review we sought to characterize the lived experience of people living with FSHD (pwFSHD) to help clinicians to orient their services to the needs of these individuals. Methods Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. ENhancing Transparency in REporting the Synthesis of Qualitative research and Preferred Reporting Items for Systematic Reviews and Meta‐Analyses guidelines informed the methodology. Study quality was assessed using the Critical Appraisal Skills Programme Checklist tool, which measures the methodological quality of qualitative research. Data extracted from included studies were analyzed using thematic synthesis. Results Ninety‐nine pwFSHD took part in the six studies included in this review ‐ from research teams based in two countries. Five descriptive themes emerged: “Engaging with life as symptoms progress”; “The emotional journey”; “A family burden to bear”; “Social connection and disconnection”; and “Tension between visibility and invisibility.” From these, two analytical themes were derived: “The emotional challenge of continuing and intensifying adaptation” and “The relational burden of rare disease.” Discussion The lived experience of pwFSHD is characterized by physical, emotional, and social challenges that impact on engagement with life, particularly as symptoms progress. Further research is needed to provide a fuller understanding of the experience of pain in FSHD and of the lived experience of FSHD across cultures.