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Rare disease: a national survey of paediatricians’ experiences and needs
  1. Yvonne Zurynski1,2,
  2. Aranzazu Gonzalez1,
  3. Marie Deverell1,2,
  4. Amy Phu1,2,
  5. Helen Leonard3,
  6. John Christodoulou4,5,6,
  7. Elizabeth Elliott1,2,7
  8. on behalf of the APSU Impacts of Rare Diseases Study Partners
  1. 1 Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, New South Wales, Australia
  2. 2 Discipline of Child and Adolescent Health, Sydney Medical School, The University of Sydney, Sydney, New South Wales, Australia
  3. 3 Telethon Kids Institute, The University of Western Australia, West Perth, Western Australia, Australia
  4. 4 Murdoch Children’s Research Institute, University of Melbourne, Melbourne, Victoria, Australia
  5. 5 Clinical School, Sydney Children’s Hospital Network, Sydney, New South Wales, Australia
  6. 6 Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, the Children’s Hospital at Westmead, Westmead, New South Wales, Australia
  7. 7 Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Victoria, Australia
  1. Correspondence to and Dr Yvonne Zurynski, Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, NSW 2145, Australia; yvonne.zurynski{at}


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.

  • paediatric practice
  • general paediatrics
  • medical education
  • genetics

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  • Contributors YZ: designed the study and analysis, interpreted data, and drafted the manuscript. EE, JC, HL and MD: contributed to study design and edited the manuscript. AG: finalised the survey design, undertook data analysis and wrote the results section. AP: digitised the survey, randomised the sample of respondents, oversaw the data collection, cleaned the data and prepared it for analysis. All authors: read and approved the final manuscript.

  • Funding This research was supported by an Australian Research Council Linkage Project grant scheme (project no. LP110200277). HL is supported by an NHMRC Senior Research Fellowship (no. 1117105) and EE is supported by an NHMRC Practitioner Fellowship (no. 1021480).

  • Disclaimer The views expressed herein are those of the authors and are not necessarily those of the Australian Research Council.

  • Competing interests None declared.

  • Ethics approval Sydney Children’s Hospitals Network Human Research Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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