{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T14:24:49Z","timestamp":1785421489490,"version":"3.56.0"},"reference-count":32,"publisher":"AOSIS","issue":"0","license":[{"start":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T00:00:00Z","timestamp":1734307200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Background:\u00a0Epidermolysis 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.\n\nAim:\u00a0This study aims to understand the lived experiences of patients with EB.\n\nSetting:\u00a0Intensive 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.\n\nMethods:\u00a0This 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\u2019s framework of trustworthiness was used to ensure rigour.\n\nResults:\u00a0Three 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.\n\nConclusion:\u00a0Epidermolysis 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.\n\nContribution:\u00a0To 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.<\/jats:p>","DOI":"10.4102\/hsag.v29i0.2824","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T03:41:25Z","timestamp":1734320485000},"update-policy":"https:\/\/doi.org\/10.4102\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Lived experiences of patients with epidermolysis bullosa: A rare genetic skin disease"],"prefix":"10.4102","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9825-6191","authenticated-orcid":false,"given":"Antoinette V.","family":"Chateau","sequence":"first","affiliation":[{"name":"Greys Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5609-9343","authenticated-orcid":false,"given":"David","family":"Blackbeard","sequence":"additional","affiliation":[{"name":"Greys Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7199-9160","authenticated-orcid":false,"given":"Colleen","family":"Aldous","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/04qzfn040","id-type":"ROR","asserted-by":"publisher"}],"name":"University of KwaZulu-Natal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2425-3905","authenticated-orcid":false,"given":"Ncoza","family":"Dlova","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/04qzfn040","id-type":"ROR","asserted-by":"publisher"}],"name":"University of KwaZulu-Natal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4291-1641","authenticated-orcid":false,"given":"Cassidy-Mae","family":"Shaw","sequence":"additional","affiliation":[{"name":"Greys Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2580","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"ref0","doi-asserted-by":"crossref","unstructured":"Alase, A.O., 2017, \u2018The interpretative phenomenological analysis (IPA): A guide to a good qualitative research approach\u2019, International Journal of Education and Literacy Studies 5(2), 9\u201319. https:\/\/doi.org\/10.7575\/aiac.ijels.v.5n.2p.9","DOI":"10.7575\/aiac.ijels.v.5n.2p.9"},{"key":"ref1","doi-asserted-by":"crossref","unstructured":"Angelis, A., Kanavos, P., L\u00f3pez-Bastida, J., Linertov\u00e1, R., Oliva-Moreno, J., Serrano-Aguilar, P. et al., 2016, \u2018Social\/economic costs and health-related quality of life in patients with epidermolysis bullosa in Europe\u2019, The European Journal of Health Economics 17(Suppl. 1), 31\u201342. https:\/\/doi.org\/10.1007\/s10198-016-0783-4","DOI":"10.1007\/s10198-016-0783-4"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"Budych, K., Helms, T.M. & Schultz, C., 2012, \u2018How do patients with rare diseases expereince the medical encounter? 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