{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T21:45:52Z","timestamp":1767649552220,"version":"3.37.3"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:00:00Z","timestamp":1728604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T00:00:00Z","timestamp":1728604800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100003921","name":"Department of Health and Aged Care, Australian Government","doi-asserted-by":"publisher","award":["Department of Health and Aged Care, Australian Government"],"award-info":[{"award-number":["Department of Health and Aged Care, Australian Government"]}],"id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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.<\/jats:p><jats:p>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.<\/jats:p>","DOI":"10.1186\/s13023-024-03397-2","type":"journal-article","created":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T13:01:51Z","timestamp":1728651711000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Rare Disease Focused Antenatal Education and Diagnosis Support: Two Case Studies of Epidermolysis Bullosa Simplex"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8304-701X","authenticated-orcid":false,"given":"Rebecca","family":"Saad","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Pysar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alaxandra","family":"Blackwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,11]]},"reference":[{"issue":"3","key":"3397_CR1","doi-asserted-by":"publisher","first-page":"574","DOI":"10.1111\/bjd.18128","volume":"182","author":"C Has","year":"2020","unstructured":"Has C, Liu L, Bolling M, Charlesworth A, El Hachem M, Esc\u00e1mez M, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020;182(3):574\u201392.","journal-title":"Br J Dermatol"},{"issue":"4","key":"3397_CR2","doi-asserted-by":"publisher","first-page":"620","DOI":"10.1111\/bjd.20809","volume":"186","author":"DT Greenblatt","year":"2022","unstructured":"Greenblatt DT, Pillay E, Snelson K, Saad R, Torres Pradilla M, Widhiati S, et al. Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline. Br J Dermatol. 2022;186(4):620\u201332.","journal-title":"Br J Dermatol"},{"issue":"12","key":"3397_CR3","doi-asserted-by":"publisher","first-page":"2349","DOI":"10.1111\/jdv.17629","volume":"35","author":"C Has","year":"2021","unstructured":"Has C, El Hachem M, Bu\u010dkov\u00e1 H, Fischer P, Friedov\u00e1 M, Greco C, et al. Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare skin diseases. J Eur Acad Dermatol Venereol. 2021;35(12):2349\u201360.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"3397_CR4","unstructured":"Denyer J, Pillay E, Clapham J. Best practice guidelines for skin and wound care in Epidermolysis Bullosa. Int Consensus Wounds Int. 2017."},{"key":"3397_CR5","doi-asserted-by":"publisher","unstructured":"Saad S, Duipmans J, Yerlett N, Plevey K, McCuaig C, Woolfe W, et al. Neonatal epidermolysis bullosa: a clinical practice guideline. Br J Dermatol. 2024;ljae006. https:\/\/doi.org\/10.1093\/bjd\/ljae006. Accessed 16 April 2024.","DOI":"10.1093\/bjd\/ljae006"},{"key":"3397_CR6","unstructured":"Australian Government Department of Health and Aged Care. National Strategic Action Plan for rare diseases. In: Health Do, editor. 1 ed2020. https:\/\/www.health.gov.au\/resources\/publications\/national-strategic-action-plan-for-rare-diseases. Accessed 16 April 2024."},{"key":"3397_CR7","unstructured":"EURORDIS. The voice of 12,000 patients: Experiences and expectations of rare disease patients on diagnosis and care in Europe. https:\/\/www.eurordis.org\/publications\/the-voice-of-12000-patients\/. Accessed 16 April 2024."},{"key":"3397_CR8","doi-asserted-by":"crossref","unstructured":"Lopes MT, Koch VH, Sarrubbi-Junior V, Gallo P, Carneiro-Sampaio M. Difficulties in the diagnosis and treatment of rare diseases according to the perceptions of patients, relatives and health care professionals. Clinics (Sao Paulo, Brazil). 2018;73:e68.","DOI":"10.6061\/clinics\/2018\/e68"},{"key":"3397_CR9","doi-asserted-by":"crossref","unstructured":"Zurynski Y, Gonzalez A, Deverell M, Phu A, Leonard H, Christodoulou J et al. Rare disease: a national survey of paediatricians\u2019 experiences and needs. BMJ Paediatrics Open. 2017;1(1).","DOI":"10.1136\/bmjpo-2017-000172"},{"issue":"6","key":"3397_CR10","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1002\/mgg3.315","volume":"5","author":"C von der Lippe","year":"2017","unstructured":"von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758\u201373.","journal-title":"Mol Genet Genomic Med"},{"issue":"3","key":"3397_CR11","doi-asserted-by":"publisher","first-page":"e207","DOI":"10.1016\/j.pedn.2015.10.022","volume":"31","author":"LJ Pelentsov","year":"2016","unstructured":"Pelentsov LJ, Fielder AL, Esterman AJ. The supportive care needs of parents with a child with a Rare Disease: a qualitative descriptive study. J Pediatr Nurs. 2016;31(3):e207\u201318.","journal-title":"J Pediatr Nurs"},{"key":"3397_CR12","unstructured":"NEBDS. 2023, Epidermolysis Bullosa: Antenatal Referral and Education https:\/\/www.ebdressings.com.au\/wp-content\/uploads\/2021\/12\/NEDBS-Antenatal-Referral-and-Education-Form.pdf Accessed 16 April 2024."},{"key":"3397_CR13","unstructured":"So JY, Teng J, Epidermolysis Bullosa S. 1998 Oct 7 [Updated 2022 Aug 4]. In: Adam MP, Feldman J, Mirzaa GM, editors. GeneReviews\u00aehttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1369\/ Accessed 16 April 2024."},{"issue":"1","key":"3397_CR14","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1186\/s13023-019-1086-5","volume":"14","author":"K Martin","year":"2019","unstructured":"Martin K, Geuens S, Asche J, Boden R, Browne F, Downe A, et al. Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines. Orphanet J Rare Dis. 2019;14(1):133.","journal-title":"Orphanet J Rare Dis"},{"key":"3397_CR15","doi-asserted-by":"crossref","unstructured":"Lucky A, Whalen J, Rowe S, Marathe K, Gorell E. Diagnosis and care of the newborn with Epidermolysis Bullosa. Neoreviews. 2021;e438.G.","DOI":"10.1542\/neo.22-7-e438"},{"issue":"1","key":"3397_CR16","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1053\/j.semperi.2012.11.004","volume":"37","author":"M Gonzalez","year":"2013","unstructured":"Gonzalez M. Evaluation and treatment of the newborn with epidermolysis bullosa. Semin Perinatol. 2013;37(1):32\u20139.","journal-title":"Semin Perinatol"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03397-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03397-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03397-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,11]],"date-time":"2024-10-11T13:04:41Z","timestamp":1728651881000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03397-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,10,11]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3397"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03397-2","relation":{},"ISSN":["1750-1172"],"issn-type":[{"type":"electronic","value":"1750-1172"}],"subject":[],"published":{"date-parts":[[2024,10,11]]},"assertion":[{"value":"5 January 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 October 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Review by the Medical Ethical Committee was not applicable. All patient care and treatment included standard care of services available to participants on the National Epidermolysis bullosa Dressing Scheme. The inclusion of clinical genetics\/genetic counselling also comprised of standard clinical care.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details was obtained from the families. A copy of the consent form is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"RS is employed as the education nurse for the NEBDS as well as clinical nurse consultant for Sydney Children\u2019s Hospital. The educational role was clearly defined as education only, no clinical care was provided in the antenatal period and case management was transferred to clinical Epidermolysis Bullosa (EB) specialist care as soon as the case subjects were born.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Every effort has been made to de-identify patients and their cases. Patients, clinicians, and clinical sites have not been named.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"De-identification of subjects"}}],"article-number":"377"}}