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

To enable clinicians to orient their services to the needs of people living with FSHD (pwFSHD) this review sought to characterise the lived experience of pwFSHD. Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. Enhancing transparency in reporting the synthesis of qualitative research (ENTREQ) and Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines informed the methodology. Study quality was assessed using the Critical Appraisal Skills Programme Checklist (CASP) tool which measures the methodological quality of qualitative research. Data extracted from included studies were analysed using thematic synthesis. 99 pwFSHD took part in 6 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". The lived experience of pwFSHD is characterised 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