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

I rise to support the motion moved by the member for Fowler. The member for Riverina has also spoken passionately about it. Both members understand the issues that surround parents that have a child that has a rare disease such as Phelan McDermid Syndrome. I think one of the key factors is that there are only 600 people worldwide, all children I understand, and 30 here in Australia that have PMS as it is often referred to.

It is one of those diseases that is a genetic disorder. It is characterised by global developmental delay as has already been mentioned. Most sufferers have no speech or are severely speech delayed. We have talked a little bit in this debate about how it is caused by the deletion or rearrangement of chromosome 22. SHANK3 is often deleted in people with PMS. It has also been associated with autism spectrum. But it has also been shown that there is a connection with schizophrenia through SHANK3.

I would like to acknowledge the role of the PMS foundation in providing both financial and emotional support for families to deal with the impact that this disorder has. The member for Fowler and the member for Riverina both referred to the role that Megan Toole has played.

The real issue is that PMS is a very rare disease. Very few people suffer from this disease and because of that it is really hard to attract money for research. It is really hard to have drugs that will actually assist those people who have PMS. Consequently with such a small number of people suffering from this disorder, it makes life really hard and it makes it very hard to bring about change. PMS is one of many rare diseases that fit into this void where you cannot get the money for research, where you cannot get the drugs, all because just not enough people have it. But if you put together the number of people that have rare diseases globally there are actually 70 million people and that is quite significant.

There are two million people in Australia living with rare diseases and 10 per cent of the Australian population is directly affected by one or more of the 8,000 diseases. When you put it into that sort of parameter you can see that there may not be a lot of people affected but when you join together all those people in Australia that are suffering from rare diseases it shows that we need to adopt a different approach to dealing with people whose lives are impacted incredibly by having a child with, or themselves, having a rare disease. Julie and Andrew, I know how hard it must be for you with your little daughter. I think that going to see Chris was one of those really courageous things that can happen that can bring about changes.

I have been doing some work with Rare Voices Australia. They are trying to be an umbrella group for all of these rare diseases. People with rare diseases face enormous challenges each and every day just struggle to keep their lives together. It is through the organisations such as Rare Voices Australia that they can actually move things forward. Then you get people coming together and with numbers you can make your voice heard a bit better. My thoughts are with you. Thank you, Chris. I thank you member for Fowler and member for Riverina. Your contributions were very moving.

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