Rare disease: a national survey of paediatricians’ experiences and needs

Yvonne Zurynski*, Aranzazu Gonzalez, Marie Deverell, Amy Phu, Helen Leonard, John Christodoulou, Elizabeth Elliott, The APSU Impacts of Rare Diseases Study Partners

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

33 Citations (Scopus)
31 Downloads (Pure)


Objective: To describe the experiences of Australian paediatricians while caring for children with rare diseases, and their educational and resource needs. Design: A brief online survey was developed and deployed to a representative sample of 679 paediatricians from the Australian Paediatric Surveillance Unit database. Results: Of the 679 paediatricians, 242 (36%) completed the survey. The respondents were representative of all states and territories of Australia, urban and rural regions, and hospital and private practice. Almost all respondents (93%) had seen children with one or more of ≫350 different rare diseases during their career; 74% had seen a new patient with rare disease in the last 6 months. The most common problems encountered while caring for patients were: diagnostic delays (65%), lack of available treatments (40%), clinical guidelines (36%) and uncertainty where to refer for peer support (35%). Few paediatricians said that rare diseases were adequately covered during university (40%) or the Fellowship of the Royal Australasian College of Physicians (50%) training, and 28% felt unprepared to care for patients with rare diseases. Paediatricians wanted lists of specialist referral services (82%) and online educational modules about rare diseases (78%) that could be accessed via one online portal that consolidated multiple resources. Smartphone applications on rare diseases were favoured by paediatricians aged <50 years and by female paediatricians. Conclusions: An online educational portal should be developed and maintained for accuracy and currency of information to support dissemination of rare disease guidelines, referral pathways and coordination services relevant to Australian paediatricians and other health professionals who care for children with rare diseases.

Original languageEnglish
Article numbere000172
Pages (from-to)1-8
Number of pages8
JournalBMJ Paediatrics Open
Issue number1
Publication statusPublished - 1 Dec 2017
Externally publishedYes

Bibliographical note

Copyright the Author(s) 2017. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


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