Jill Hall (Shortland, Australian Labor Party) Share this | Hansard source

I move:

Last Friday, 28 February was Rare Disease Day. Rare Disease Day is a day when we acknowledge that around 10 per cent of the Australian population, which includes 400,000 children, are suffering from a rare disease. These rare diseases are complex; often, there is inadequate treatment for these diseases. In Australia, there are more than 8,000 such diseases, and 80 per cent of rare diseases affect children. For most of them, these diseases continue throughout their life. The fact that these diseases are so rare acts against research into them Nova employment. You need a critical mass of people affected by one disease to influence the decisions of government to undertake research into these diseases, such as Pompe disease, many motor neurone diseases and cystic fibrosis. There are a number of different types of cystic fibrosis that affect very small numbers of people.

As well as a lack of research into these diseases, there is an inadequate rate of diagnosis. Because these diseases are so rare, it takes a very long time for them to be diagnosed. Once the diagnosis takes place, management of the disease is very important. If the diagnosis is delayed, then the treatment is also delayed. One of the things that I think that is extremely important is the need to establish a rare diseases register that is free of commercial interests for research purposes and that will be beneficial to patients. We need to have a register of rare diseases. That would be of great assistance to people who are living with such diseases.

Establishing a diagnosis for patients with a rare disease provides an answer for their families, who have been searching for guidance on dealing with the illness that their loved one has been living with. It enables accurate genetic counselling for family members, where it identifies a genetic basis—because that is often the first step in understanding the biological pathways and in developing targeted treatments. Only a minute portion of people have a therapeutic option. That is the nature of rare diseases. They often need complex management and multidisciplinary services. Chris Walker, who came to see me—he is a friend of a friend—has two grandsons who have chronic idiopathic intestinal pseudo-obstruction, an X-linked filamin A defect. It is a very rare disorder; it affects children's bowels. There are only two families that have been identified as having children with this disease. There is one family in the US, and they have one surviving child, and there are Chris's grandchildren Jordan and Logan, the children of his daughter Brooke. They have central lines in their chests. They are extremely susceptible to infection. It is a full task, 24 hours a day—a task of love—to look after the children.

Rare diseases, by their very nature, are rare. The treatments that are available are very hard to access, and the first step towards actually dealing with the issues around rare diseases is to establish a register and have more research into these individual-type diseases.

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