Call for a national plan for rare diseases

Journal of Paediatrics and Child Health
Adam JaffeElizabeth Elliott

Abstract

Australia requires a national plan, similar to plans developed internationally, to address the impacts of rare diseases on individuals, the community and health services. Rare diseases often present in childhood, many are chronic, some life threatening and others associated with significant disability. However, diagnosis is often delayed, because of lack of knowledge and experience of health professionals and uncertainty about where to refer. Specialised health services are frequently lacking and specific therapies are often not available, partly because of lack of research funding directed towards rare diseases. A national plan would facilitate a coordinated response to service development, carer support, and health professional and community education, and would promote research and advocacy for affected children and their families.

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Citations

Aug 1, 2012·Journal of Developmental Origins of Health and Disease·K KennaR Harding
Aug 19, 2011·Orphanet Journal of Rare Diseases·Hugh J S DawkinsPeter C O'Leary
Aug 14, 2012·Orphanet Journal of Rare Diseases·Caron MolsterUNKNOWN National Rare Diseases Working Group
Jan 13, 2016·Orphanet Journal of Rare Diseases·Deirdre PintoRichard Chenhall
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May 12, 2015·Disability and Health Journal·Lemuel J PelentsovAdrian J Esterman
Jul 22, 2016·BMC Family Practice·Lemuel J PelentsovAdrian J Esterman
Apr 13, 2017·Orphanet Journal of Rare Diseases·Yvonne ZurynskiUNKNOWN APSU Rare Diseases Impacts on Families Study group
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Oct 31, 2014·The European Journal of Health Economics : HEPAC : Health Economics in Prevention and Care·J-Matthias Graf von der Schulenburg, Martin Frank
Mar 26, 2016·Orphanet Journal of Rare Diseases·Caron MolsterHugh Dawkins
Nov 14, 2018·Orphanet Journal of Rare Diseases·Monique GarciaWei Wang
Feb 15, 2017·Frontiers in Neurology·Ebba LohmannKathrin Grundmann
Sep 12, 2017·Internal Medicine Journal·Paul LacazeAlan H Bittles
Apr 17, 2021·Journal of Paediatrics and Child Health·Kaustuv BhattacharyaYvonne Zurynski

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