Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex

Autor:	Rebecca Saad, Ryan Pysar, Alaxandra Blackwell
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	Epidermolysis Bullosa Antenatal Newborn Rare disease Referral Diagnosis Medicine
Zdroj:	Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-5 (2024)
Druh dokumentu:	article
ISSN:	1750-1172 43686184
DOI:	10.1186/s13023-024-03397-2
Popis:	Abstract 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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/d27fb436861841df971e15d28b810570 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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