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

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.