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

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This systematic review aimed to understand the lived experience of people living with facioscapulohumeral muscular dystrophy (FSHD) to help clinicians better meet their needs. The review included six qualitative research studies with a total of 99 participants with FSHD. The analysis identified five descriptive themes: "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 themes, two analytical themes were derived: "The emotional challenge of continuing and intensifying adaptation" and "The relational burden of rare disease."<br /><br />The review found that the lived experience of FSHD is characterized by physical, emotional, and social challenges. As symptoms progress, individuals may need to adapt and find strategies to manage the impact of symptoms on their daily lives. The emotional journey of individuals with FSHD includes various responses to diagnosis, such as feeling overwhelmed, relieved, or in denial. The condition also affects family dynamics, with the burden of care and changes to relationships as the illness progresses. FSHD can present barriers to social connection, including communication difficulties and social isolation. Additionally, there is tension between disclosing the diagnosis and dealing with the invisibility of the condition in society.<br /><br />These findings have implications for clinical practice, highlighting the need for interventions that promote acceptance and help individuals cope with the emotional and social challenges of FSHD. Increasing visibility and awareness of the condition through initiatives like online communities can also improve social connections and reduce isolation. However, further research is needed to better understand the experience of pain in FSHD and the impact of the condition across different cultures.

Keywords

systematic review

facioscapulohumeral muscular dystrophy

lived experience

clinicians

qualitative research studies

descriptive themes

analytical themes

emotional challenge

relational burden

clinical practice