Perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support and using a wheelchair: an interview study

Purpose: To describe perceptions of the transition from receiving the diagnosis recessive limb-girdle muscular dystrophy to becoming in need of human support to manage daily life and using a wheelchair for ambulation, from the affected young adults and their parents perspectives. Method: A qualitative and descriptive study design was used. Semi-structured interviews were held with 14 young adults diagnosed with recessive limb-girdle muscular dystrophy and 19 parents. Phenomenography was used for data analysis. Results: The diagnosis was described as being a shock and difficult to comprehend but also as a relief and a tool for information. Beginning to use a wheelchair was perceived to be mentally difficult but it also provided freedom. New ways of living involved physical, emotional, practical, and social difficulties as well as experiences of learning to adapt to the disease. The transition was overshadowed by concern about disease progression and influenced by facilitating factors, which were young adult being seen as a person; supportive family and friends; mobilized internal resources; meaningful daily activities; adapted environment; and professional support. Conclusions: The different perceptions expressed in this study highlight the importance of identifying personal perceptions and needs in order to optimize support provided by healthcare professionals.Funding Agencies|Linnaeus University, Sweden