Chris Hayes (Fowler, Australian Labor Party) Share this | Hansard source

I would also like to thank the member for Shortland for giving us the opportunity to discuss the challenges faced by individuals and families living with rare diseases. Each rare disease, by nature, affects a small number of individuals; but combined, they impact on a large number of people in our community—in fact, there are more than 8,000 rare diseases currently known.

In Australia alone 1.2 million people are affected, including 400,000 children. If we consider the carers and the families of all those individuals we come to the conclusion that the majority of Australians, in some form or another, are affected by these rare diseases—yet there are many instances where, due to the rarity of certain illnesses, people fall through the cracks when it comes to government support. One such case concerns a three-year-old girl, Olivia Toole, one of only 30 sufferers of what is known as Phelan McDermid syndrome. Phelan McDermid syndrome is a rare genetic disorder caused by a micro-dilution on chromosome-22 in the human genome, which plays an important role in the brain development of infants. The diagnosis of the syndrome was not made possible until 1999. Until then, many cases were thought to be sufferers of autism or similar, showing similar symptoms. Three-year-old Olivia's symptoms are in a lot of ways very similar to those of children with autism. She has not acquired speech, she suffers from seizures and pneumonic episodes and has been hospitalised so many times in her short life. Olivia's mother, Megan, is known to me because she went to school at St Thomas More with my youngest son, Jonathan. I know that Megan and her husband Andrew have invested much in terms of Olivia's health, and I have been impressed by what they have done to promote the issue of Phelan-McDermid Syndrome for other families living with sufferers of that disease.

Early intervention, as with anything else, is a very important part of dealing with this syndrome. To get early intervention support, sufferers must have a disease that falls within the regulative framework, and unfortunately Phelan-McDermid Syndrome does not fall within that framework. The families go through the same struggles as anybody else with the high cost of treatment therapies, medications and other expenses. In young Olivia's case, this emphasises what can happen when a child falls through the cracks.

I would like to congratulate the work and praise the efforts of Rare Voices Australia, a national organisation assisting families, friends and carers impacted by rare diseases. They are a very strong advocate for the many individuals whose voices deserve to be heard.

A little time back, I used the opportunity to raise awareness of another lesser-known illness affecting many Australian families called spinal muscular atrophy. SMA is a leading genetic killer of infants under two in Australia. It is a rare genetic motor neurone disease causing progressive deterioration of motor neurones in the spinal cord. One in 35 Australians carry the recessive gene and 55 Australian infants die from this disability each month. I am always amazed at how people who go through the toughest times find the strength to assist others in similar situations.

I spoke about Megan O'Toole and what she is doing in relation to her daughter's disease. I would also pay tribute to Julie Cini, the CEO and founder of the Spinal Muscular Atrophy Association of Australia, who lost two daughters to SMA and who is using her experience to assist others—as is my cousin, Tamara, who sadly lost her daughter Summer in 2010.

What this shows is that there are many people who fall through the cracks, but fortunately there are good people who will do everything they can to ensure that they can protect fellow members of the community. (Time expired)

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