Rare Diseases in Australia: a piecemeal approach
Molly Cross is eighteen months old and has recently been diagnosed with Angelman syndrome. ‘It has been an extremely difficult time,' says her mother Meagan. ‘We looked for information and support everywhere, but our search hasn't brought the results we expected. There is an Australian patient organisation for Angelman Syndrome, but they are not very active. It is appalling that there is no coordinated approach to rare diseases to fight for the rights of patients in Australia. We are setting up our own website to advocate and try to make things move faster.'
The Association of Genetic Support of Australasia (AGSA)1 was established in 1988. It is a network of people who are affected by genetic conditions, either directly or indirectly. AGSA endeavours to facilitate contact with other families or individuals affected by the same or similar conditions; it also provides information about support groups in Australia and overseas. ‘We have over 800 rare genetic diseases in our database,' says Dianne Petrie, AGSA's Director. ‘Individuals living with a rare disorder need legislation in Australia and New Zealand. There has been discussion about how we might approach access to innovative therapies and orphan drugs;, and a workshop on how to develop a National Action on Rare Diseases in Australia will be held at a National Conference in May 2009. With planning, one could envisage a bold vision of forming a South East Asian or Asia Pacific Organisation for Rare Disorders in years ahead.'
SMILE is a charity that was recently established by business people to generate funds to support Australian medical research into rare childhood diseases and provide financial assistance to affected children and their families. ‘There is currently no great awareness of rare diseases in Australia,' says Karen Gair, CEO of SMILE. ‘We estimate the number of rare disease patients in Australia to be at least 1.2 million, which is the same number as patients suffering from diabetes. But, whereas awareness on diabetes is great, it's almost non-existent for rare diseases, and there is no impetus in official circles to address these issues. Our organisation has officially written to the Federal Minister for Health and Ageing, calling for the establishment of a Rare Diseases Task Force, but the response was extremely disappointing. There is excellent research on a number of rare diseases in Australia, such as muscular dystrophy or mitochondrial diseases, but overall, the approach to rare diseases in Australia is fragmented. There is a myriad of disease specific patient organisations, but no umbrella organisation covering all diseases for all States2 of Australia and at a national level. What is also missing is a coordinated National Plan for Rare Diseases, such as those existing in Europe. This was the centre of the discussions we had at last February's Rare Diseases meeting.'
The meeting was organised by the Australian Paediatric Surveillance Unit (APSU), a national research organisation established in 1993 and based at the Westmead Children's Hospital, which collects data on rare childhood diseases in Australia. ‘We have written to the Federal Minister for Health and Ageing to argue for the adoption of a National Plan for Rare Diseases,' says Yvonne Zurynski, APSU's Assistant Director. ‘We are lucky here in Australia, because we can use the experience of other countries, such as the USA, and many in Europe. During the meeting, we discussed the possibility of an Australian National Plan that would be similar to the French Plan for Rare Diseases, with a focus on health research, better access to health services and treatments, and improved access to information and educational resources for families and for clinicians.' The only piece of legislation in favour of rare diseases in Australia today is the Orphan Drug Program of 1998. The Program, developed by the Therapeutic Goods Administration, (TGA) - the equivalent of the FDA in the USA - is aimed at encouraging sponsors of prescription medicines for treatment of rare diseases to register and market these medicines in Australia. The TGA waives fees for the application for orphan drug designation and, the application for registration and for the initial evaluation of the data, and provides exclusive approval. ‘But this is not enough,' says Yvonne Zurynski. ‘The awareness of rare diseases in Australia is still too low and there is no common voice for all rare disease patients. With the help of SMILE, we are hoping to trigger the creation of such an organisation in the near future.' Karen Gair, CEO of SMILE, agrees, ‘It would be fantastic to see this organisation launched by International Rare Disease Day 2010.'
Nigel Clarke is a clinical geneticist conducting research on rare muscular diseases and treating patients at the Westmead Children's Hospital. He has just come back from spending two years at INSERM3 in France. ‘I was impressed by the awareness of rare diseases that exists in France and Europe, at government level but also among the general population. I even took part in the Rare Disease March organised by the French Association for Rare Diseases (Alliance Maladies Rares). This was amazing! When are we going to see such commitment in Australia?'
1AGSA is a member of the Australasian Genetic Alliance and the International Genetic Alliance
2The Commonwealth of Australia comprises six States and two mainland territories
3Institut National de la Santé et de la Recherche Médicale - National Institute for Research and Medical Health
This article was first published in the March 2009 issue of the EURORDIS newsletter
Author: Jérôme Parisse-Brassens
Photo credits: © EURORDIS; SMILE