Wednesday, 29 February, has been celebrated worldwide as Rare Disease Day with events highlighting the plight of those with rare diseases such as HSP and calling for governments and health authorities to do more.
With over 7,000 registered rare diseases, although the numbers with any one of these diseases in Australia will be small (1,600 estimated with HSP), taken overall, there is the alarming statistic that one in 10 people has a rare disease either for their whole life or at some stage of it. 4,000 of these diseases have known molecular causes, but a cure has been found for only 250 so far… but for many of these, the cure has not been developed and is not commercially available. As a society we can do better. More needs to be done!
1,600 people with HSP will not get politicians excited, but 10% of the population with one of 7,000 rare diseases demands their attention. The federal government announced last year support-in-principle for a National Disability Insurance Scheme (NDIS)… but it is years away from implementation and who knows what level of commitment they will display as time rolls by.
In Sydney, a Rare Disease Day event was held with former Australian cricket captain Steve Waugh and TV star Georgie Parker headlining the proceedings. In addressing the crowd, Steve emphasised the need for Government recognition and action on the NDIS.
This coming Wednesday, 7 March, the Australian Paediatric Surveillance Unit is holding a workshop in Sydney (Final_Workshop_Flyer) on rare diseases to mark World Rare Disease Day. All are welcome to attend and here are the details:
Wednesday, 7 March, 9am – 5pm, The Children’s Hospital at Westmead
The workshop (Final_Program1) will focus on:
- research and policy related to rare diseases,
- the experiences of families
- health service needs
- Professor Helen Leonard, Institute of for Child Health Research WA
- Professor Elizabeth Elliott, APSU and Faculty of Medicine, The University of Sydney
- Dr Kaustuv Bhattachayra, Dr Carolyn Ellaway and Dr Felicity Collins from the Medical Genetics Department, Children’s Hospital at Westmead
- Presentations from families living with a rare condition and from support groups: The Smile Foundation, The Steve Waugh Foundation and Association of Genetic Support of Australasia (AGSA).