National Epidermolysis Bullosa Dressing Scheme. Program funded by the Federal Department of Health and Aged Care, and administered by Independence Australia, Melbourne, Australia.
Department of Dermatology, Sydney Children's Hospital, Randwick, NSW, Australia.
Orphanet J Rare Dis. 2024 Oct 11;19(1):377. doi: 10.1186/s13023-024-03397-2.
Many people living with a rare disease (RD) face challenges accessing timely diagnosis and disease-specific specialist care. Early health-care challenges for people living with Epidermolysis Bullosa (EB), a rare genetic disease affecting 1:20,000 individuals, can begin in the antenatal period.People living with EB in Australia have access to a government funded disease specific antenatal education and support program through the National Epidermolysis Bullosa Dressing scheme (NEBDS). This article discusses two births involving families living with EB Simplex (EBS) in regional Australia. The education and support structures implemented by the NEBDS and clinical teams are discussed in line with the Australian National Strategic Action Plan for rare diseases, and includes access to genetic diagnosis, EB education, and complex care coordination.
许多患有罕见病的人在获得及时诊断和特定疾病专家治疗方面面临挑战。患有罕见遗传性疾病大疱性表皮松解症（EB）的人在产前阶段就可能面临早期医疗保健挑战，每 20,000 人中就有 1 人患病。澳大利亚的 EB 患者可以通过国家 EB 敷料计划（NEBDS）获得政府资助的特定疾病产前教育和支持计划。本文讨论了澳大利亚偏远地区两个 EB 单纯型（EBS）家庭的分娩案例。本文按照澳大利亚国家罕见病战略行动计划，讨论了 NEBDS 和临床团队实施的教育和支持结构，包括获得基因诊断、EB 教育和复杂护理协调的机会。
