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

I rise to bring the attention of the House to a very rare form of disability known as the Phelan McDermid Syndrome. I only became aware of this disability late last November when I met up with a long-time friend of mine, Julie O'Keefe, and her daughter—and her daughter and her husband, Andrew, are sitting in the gallery here. They have a daughter with Phelan McDermid Syndrome. It is a family I have known for a long while. Megan went to school with my youngest son, Jonathan, at St Thomas More's in Ruse, so there is a strong family connection.

As members of parliament we get to hear about many things and many conditions but here is one I had never heard of and one that affects someone close to my family and close to our community. I thought it was incumbent on me to at least bring this to the attention of this parliament.

I will fast-forward a couple of years. Megan and her husband, Andrew, found themselves as parents of a child with a disability. Their beautiful daughter Olivia was diagnosed back in 2011 with this extremely rare genetic disorder called Phelan McDermid Syndrome. The disability arises because of a genetic disorder at chromosome 22 in the human genome. This gene is understood to play an important role in the brain development of infants, so an individual with this condition often displays the same sorts of behaviours you would ordinarily expect to see of children on the autistic spectrum. Diagnosis of this disorder was only possible back in 1999. Genetic screening was insufficient to detect this micro deletion of chromosome 22 prior to that.

As parents of children with such a rare disability, Megan and Andrew have taken a very proactive role in raising awareness and advocating on behalf of other sufferers and families with children with Phelan McDermid Syndrome. Megan Toole is the regional representative for a body that is addressing the issue of Phelan McDermid Syndrome throughout Australia, New Zealand and Indonesia. In that role and in a very voluntary capacity, Megan puts in a lot of time educating, communicating with and, importantly, supporting those families and those parents with such a rare disability as Phelan McDermid Syndrome. Her deeds in this cannot be underestimated or overappreciated. They are very great endeavours to inform and help other parents, and they have to be regarded by us here in this place as absolutely admirable. This kind of effort and dedication can only come from someone who not only cares but also has actually been through the same challenges. So she is able to offer not simply sympathy to other parents, but genuine empathy, genuine compassion and genuine support.

Olivia is now almost three years of age. Unfortunately she has not acquired any speech, and she suffers from severe seizures and pneumonic episodes. She has been admitted to hospital well over 30 times in her young life. When Megan brought Olivia to my office the other day, the child was just so frightened—probably because I was dressed like this, Mr Deputy Speaker, and I probably seemed to be another doctor in another surgery. It is regrettable that, in my case, this is something that I had just not heard of, and I therefore did not have an appreciation of the effect it has on parents. It is important to understand that the symptoms of Phelan McDermid Syndrome are very similar, as I said earlier, to those of children on the autism spectrum. In fact, all but one of the sufferers of Phelan McDermid Syndrome are also diagnosed on the autism spectrum—with that one exception being little Olivia Toole. There are only 30 known sufferers of this disability in Australia.

I think that puts in perspective that people are falling through the cracks and that, because we have been specific about who gets support, those children on the autism spectrum qualify for that support but a child such Olivia—one in 30—who is the only one who has not been diagnosed— (Time expired)

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