Jill Hall (Shortland, Australian Labor Party) Share this | Link to 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.

Steve Irons (Swan, Liberal Party) Share this | Link to this | Hansard source

I rise to speak on the motion of the member for Shortland. We note that 28 February was Rare Disease Day. I support this motion that has three parts, including (1) noting the significance of the occurrence of rare diseases, (2) recognising the importance of access to trials and progress in the medical research field and (3) acknowledging the vital role which organisations play in treatment and quality of life of sufferers and investigating the calls from such organisations for the establishment of a centralised impartial national patient registry.

One such organisation which I have had an involvement with is Rare Voices Australia. Rare Voices Australia was established in 2012 with the vision to be the unified voice of all Australians living with rare disease. Rare Voices carries out the important task of advocating on behalf of approximately two million Australians who live with a rare disease. I am pleased to inform the House that this Thursday I will be hosting, with Rare Voices Australia, a barbecue to celebrate Rare Disease Day and see the launch of the publication The Australian Experience of Living with a Rare Disease here at Parliament House. I also note that the member for Shortland hosted the same barbecue last year. It is important that we, as parliamentarians on both sides of the House, do all that we can to raise awareness of this important issue which affects members of our community. I hope that many of my parliamentary colleagues will join with me on Thursday to hear firsthand the stories of people living with a rare disease.

Rare disorders are life threatening, often chronically debilitating and complex. They have been known to have affected the lives of people such as John F Kennedy, Venus Williams, Lou Gehrig, Dan Aykroyd and Missy Elliott—all of whom were diagnosed with a rare disease. I recently met with Lesley Murphy from Rare Voices Australia and she brought to my attention that whilst each instance of a rare disease may be sporadic, collectively, rare diseases are quite common within the community. In fact, it is estimated that approximately 10 per cent of the Australian population is directly affected by one or more of 8,000 rare diseases, and 400,000 of them are children.

Looking a bit closer to home, in my electorate of Swan, members might recall the story of the Dierkx family, whose six-year-old son Christian suffers from Hunter syndrome. This causes the build-up of molecules in the body and leads to the enlargement of joints, organs, heart valves and airways to the point where they cease to function. Christian began treatment with the use of the drug Elaprase—the only known treatment for Hunter syndrome—in 2009 under the Life Saving Drugs Program.

Unfortunately, in 2011 Christian's parents were advised that the Commonwealth would no longer fund the treatment on the grounds that there was no evidence of significant neuro-developmental deterioration. The Dierkx family at that time lived in the electorate of Cowper and received assistance from the member to have Christian reinstated onto the Life Saving Drugs Program by doing speeches in this place and in the main chamber, and also by involving the media. They then moved into my electorate of Swan in 2013 and immediately contacted my office for an appointment regarding the matter. I wrote to the then Minister for Health seeking for Christian to continue to receive treatment, at least until an appeals case was heard. Though ministerial intervention, I had the pleasure of informing the House, mid-way through last year, of the good news that Christian's treatment had been reinstated.

Christian's case highlights the unique challenges that each rare disease sufferer faces and also the fact that the issues faced by people living with rare diseases are similar, in that diagnosis is often difficult and delayed and treatment is complicated and very expensive. I just heard in the last speech about coeliac disease being difficult to diagnose, and I know that through my own wife, Cheryle, who has coeliac disease. It is these common challenges that we need to concentrate on in order to assist sufferers and invest in the betterment of their wellbeing.

One of the ways to assist in the diagnosis and management of a rare disease which is often brought up is through the establishment of a national patient registry. It is argued that such a national plan would provide a unified approach, leading to better coordinated care and better resource distribution, allowing us to achieve the best outcome for people living with rare diseases. I support the member for Shortland's acknowledgement that an investigation into the establishment of a national patient registry, free of commercial interests, for research purposes, would benefit the wellbeing of many patients. I commend this motion to the House and thank the member for Shortland for bringing it to the House.

Natasha Griggs (Solomon, Country Liberal Party) Share this | Link to this | Hansard source

Member for Swan, were you seconding the motion?

Steve Irons (Swan, Liberal Party) Share this | Link to this | Hansard source

Yes, I second the motion.

Natasha Griggs (Solomon, Country Liberal Party) Share this | Link to this | Hansard source

I would like to associate myself with the remarks of both the member for Shortland and the member for Swan as my family is touched by a rare disease. My nephew has a rare disease.

Debate adjourned.

Sitting suspended from 13:30 to 16:00