Related Experiment Video
Updated: Aug 24, 2026
Breath Collection from Children for Disease Biomarker Discovery
Published on: February 14, 2019
Rare disease: a national survey of paediatricians' experiences and needs
Yvonne Zurynski1,2, Aranzazu Gonzalez1, Marie Deverell1,2
1Australian Paediatric Surveillance Unit, Kids Research Institute, Westmead, New South Wales, Australia.
Insights
Australian paediatricians frequently care for children with rare diseases, facing challenges like diagnostic delays and treatment access. They desire an online portal for educational resources and referral services to improve care.
Area of Science:
- Paediatric Medicine
- Rare Diseases
- Health Professional Education
Background:
- Children with rare diseases require specialized, multidisciplinary care.
- Paediatricians face significant challenges in managing rare disease patients due to limited resources and training.
Purpose of the Study:
- To investigate the experiences of Australian paediatricians caring for children with rare diseases.
- To identify educational and resource needs of paediatricians managing rare diseases.
Main Methods:
- An online survey was distributed to 679 paediatricians from the Australian Paediatric Surveillance Unit database.
- 242 paediatricians (36% response rate) completed the survey, representing diverse geographical and practice settings.
Main Results:
- 93% of paediatricians reported seeing children with rare diseases, with 74% seeing new cases within six months.
- Common challenges included diagnostic delays (65%), lack of treatments (40%), and unclear referral pathways (35%).
- Paediatricians expressed a need for an online portal with specialist referral lists (82%) and educational modules (78%).
Conclusions:
- An accessible online educational portal is crucial for disseminating rare disease guidelines and referral information.
- Such a portal would support Australian paediatricians and other health professionals in managing children with rare diseases.
- Maintaining the portal's accuracy and currency is essential for effective support.
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.
