title: Rare childhood diseases: how should we respond?
abstract: Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services, clinicians and the wider community. Accurate data are required to inform clinical practice, government policy and health service planning. We recommend a national approach, similar to that adopted in the USA and Europe, to support research and promote advocacy and equitable access to services for children with rare diseases.
authors.affiliation: Australian Paediatric Surveillance Unit and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW, Australia. yvonnez@chw.edu.au
authors.forename: Y
authors.initials: Y
authors.lastname: Zurynski
authors.forename: K
authors.initials: K
authors.lastname: Frith
authors.forename: H
authors.initials: H
authors.lastname: Leonard
authors.forename: E
authors.initials: E
authors.lastname: Elliott
mesh_terms: D002648:Child; D002662:Child Health Services / Q000706:statistics & numerical data; D002675:Child, Preschool; D003695:Delivery of Health Care / Q000191:economics / Q000458:organization & administration*; D005260:Female; D063647:Fetal Alcohol Spectrum Disorders / Q000175:diagnosis / Q000191:economics / Q000453:epidemiology / Q000523:psychology; D006801:Humans; D007223:Infant; D008297:Male; D010290:Parents / Q000523:psychology; D010348:Patient Care Team / Q000592:standards; D017060:Patient Satisfaction; D011247:Pregnancy; D035583:Rare Diseases / Q000175:diagnosis / Q000191:economics / Q000453:epidemiology / Q000523:psychology; D015518:Rett Syndrome / Q000175:diagnosis / Q000191:economics / Q000453:epidemiology / Q000523:psychology