Lived experiences of patients with epidermolysis bullosa: A rare genetic skin disease

Abstract

Background: Epidermolysis bullosa (EB) is a rare genodermatosis that results in extreme skin fragility, for which there is no cure and may be fatal. The quality of life of patients affected may be greatly impacted.

Aim: This study aims to understand the lived experiences of patients with EB.

Setting: Intensive semi-structured interviews were conducted with three participants via Zoom, and a follow-up member checking session was held in person at the RARE-X conference.

Methods: This qualitative research used interpretative phenomenological analysis with the aim of understanding the lived experiences of patients with EB. Semi-structured interviews were conducted with three participants using Lincoln and Guba’s framework of trustworthiness was used to ensure rigour.

Results: Three adult participants shared in-depth experiences of living with EB. Four themes with subthemes were identified: (1) medical damages, (2) development trajectory, (3) subjective well-being and life satisfaction and (4) sources of resilience and support.

Conclusion: Epidermolysis bullosa affected all developmental stages of life, impacting them physically, emotionally, socially and financially. They shared their concerns relating to a lack of knowledge of healthcare practitioners (HCPs) in managing their illness and society for judging their condition. There is a need for comprehensive biopsychosocial care of patients and their families, as well as continued medical education for HCPs and awareness of society regarding this debilitating condition.

Contribution: To our knowledge, this is the first study in Africa focused on the lived experiences of patients with EB. This highlights the physical, psychosocial and financial challenges that patients with rare diseases encounter in our local setting.