Australia makes up for lost time on rare diseases

Tony Kirby, The Lancet, Volume 379, Issue 9827, Pages 1689 – 1690, 5 May 2012

Rare diseases collectively affect up to 10% of Australians, and advocates are lobbying national and state governments to accelerate efforts to develop a national plan. Tony Kirby reports.

Australia has some of the best health indicators of any high-income country, including increasing longevity bettered only by Japan. Yet in the sphere of rare diseases, the country has been lagging behind other developed nations. Australia has neither a coordinated national plan for rare diseases, nor a funded national umbrella organisation for these conditions, estimated collectively to affect some 6—10% of the population, equivalent to a total of 1·2 million Australians—the same number that have diabetes. There are some 400 000 children with rare diseases in Australia.

Although individual rare diseases, by definition, have a low prevalence, there are thousands of rare diseases. The definition of rare varies depending on setting. Australia accepts the European definition of one affected person per 2000 population or less. Examples include Batten’s disease, a deadly neurodegenerative disease that affects only about 30 children across Australia. Others include Fabry’s disease (an inherited lysosomal storage disease), rare cancers, and fetal alcohol syndrome, caused by harmful maternal alcohol consumption during pregnancy.

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