Quality of life and social support in rare genetic skin conditions: A mixed methods study

Abstract

Aim The aim of this study was to explore the relationship between quality of life (QOL) and social support in adults living with rare genetic skin conditions, specifically Epidermolysis Bullosa (EB) Ehlers-Danlos Syndrome (EDS) and related conditions. Background Measuring QOL has become an increasingly important method of evaluating the effectiveness of health and social care interventions. Living with the effects of a rare genetic condition has a profound impact on QOL for the individual and families. Design Methodological triangulation was adopted, in a sequential mixed methods exploratory design. Three stages were included: a literature review, online survey (n=31), and semi structured interviews (n=8). Outcomes The literature review concluded that professionals should adopt a biopsychosocial approach to the management of rare diseases. The online survey found a positive correlation between QOL and social support. The role of the family was a prominent theme. Most participants indicated that emotional support was provided by family carers, and tangible (practical) support was the highest rated support need. Conclusion This study demonstrated was that health and social care practitioners, policy makers and commissioners have to make room for QOL perspectives that come from the patient. These are wounded storytellers whose narratives are subjective but are spoken through illness. Their collective experiences can influence the direction of their diagnostic journey and must be front and center of any rare disease implementation plans in a post COVID era.