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

Abstract

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.Implications for RehabilitationThe different perceptions described in this study emphasize the need for person-centered care for young adults living with recessive limb-girdle muscular dystrophy and their parents.Regular controls and professional support to cope with the disease and its consequences should be offered, not only at the time of diagnosis but also throughout disease progression.Beginning to use a wheelchair can be a psychologically distressing process, which has to be acknowledged by healthcare professionals when introducing it.Healthcare professionals should not only recognize the importance of having social relations and activities that are meaningful but also be a link to authorities in society and to interest organizations that can help to facilitate the person’s management of the disease.