{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T07:18:35Z","timestamp":1780989515353,"version":"3.54.1"},"reference-count":50,"publisher":"Wiley","license":[{"start":{"date-parts":[[2025,12,22]],"date-time":"2025-12-22T00:00:00Z","timestamp":1766361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Paediatricians strive to deliver best practice care for their patients. However, when they encounter a child with one of the over 8000 rare diseases, a majority (&gt;\u200970%) of which have a genetic cause, it is challenging to find clinical guidelines and point\u2010of\u2010care resources to support their practice. This article provides a framework for a collaborative management approach for rare diseases. It draws on the team's experience in delivering multidisciplinary clinics for ultra\u2010rare conditions, running a rare disease registry and undiagnosed disease programme, and in founding a rare disease patient advocacy group for\n                    <jats:italic>SCN2A<\/jats:italic>\n                    \u2010related conditions. This article signposts useful resources to facilitate paediatricians in delivering \u2018wraparound\u2019 rare disease care that is comprehensive, holistic and child and family\u2010centred. These include Australia's first National Recommendations for Rare Disease Health Care and the RARE (Rare Awareness Rare Education) portal led by the national peak body for people living with a rare disease, Rare Voices Australia. Six key approaches are suggested that paediatricians can incorporate into their clinical practice to deliver high quality care for each child and young person with a rare disease. This includes strategies to support a timely diagnosis, including accessing undiagnosed disease programmes and linking children, young people and their caregivers with peers, patient advocacy groups and rare disease registries to reduce isolation and uncertainty. As less than 5% of rare diseases are currently amenable to a targeted therapy, it also suggests resources and approaches to facilitate access to and shared decision\u2010making about research and novel advanced therapeutics.\n                  <\/jats:p>","DOI":"10.1111\/jpc.70267","type":"journal-article","created":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T06:37:42Z","timestamp":1766471862000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["I've Never Heard of This! An Approach to Child and Family\u2010Centred Care for Children and Young People With Rare Diseases"],"prefix":"10.1111","author":[{"given":"Lisa J.","family":"Ewans","sequence":"first","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospitals Network  Sydney New South Wales Australia"},{"name":"Genomics and Inherited Diseases Program Garvan Institute of Medical Research  Darlinghurst New South Wales Australia"},{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health, University of New South Wales  Sydney New South Wales Australia"},{"name":"Rare Diseases NSW University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris","family":"Pierce","sequence":"additional","affiliation":[{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health, University of New South Wales  Sydney New South Wales Australia"},{"name":"SCN2A Australia  Buddina Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Farley","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospitals Network  Sydney New South Wales Australia"},{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health, University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-3905-4147","authenticated-orcid":false,"given":"Rachel","family":"Bowden","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospitals Network  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8094-8951","authenticated-orcid":false,"given":"Carolyn","family":"Shalhoub","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospitals Network  Sydney New South Wales Australia"},{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health, University of New South Wales  Sydney New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1844-215X","authenticated-orcid":false,"given":"Elizabeth Emma","family":"Palmer","sequence":"additional","affiliation":[{"name":"Centre for Clinical Genetics Sydney Children's Hospitals Network  Sydney New South Wales Australia"},{"name":"Discipline of Paediatrics and Child Health, School of Clinical Medicine Faculty of Medicine and Health, University of New South Wales  Sydney New South Wales Australia"},{"name":"SCN2A Australia  Buddina Queensland Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,12,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03322-7"},{"key":"e_1_2_9_3_1","unstructured":"Australian Government Department of Health \u201cNational Strategic Action Plan for Rare Diseases \u201d2020 accessed January 2025 https:\/\/www.health.gov.au\/resources\/publications\/national\u2010strategic\u2010action\u2010plan\u2010for\u2010rare\u2010diseases."},{"key":"e_1_2_9_4_1","unstructured":"Rare Disease Awareness Education Support and Training (RArEST) Project \u201cNational Recommendations for Rare Disease Health Care \u201d2024 January 2025 https:\/\/www.rarevoices.org.au\/national\u2010recommendations."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.15507"},{"key":"e_1_2_9_6_1","first-page":"69","volume-title":"Community\u2010Based Interventions for Youth","author":"Burchard J. 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