Craig Kelly (Hughes, Liberal Party) Share this | Hansard source

Firstly, I would like to congratulate my neighbour in south-west Sydney the member for Fowler for moving this important motion. Although we do not always agree with each other, it is good that we can come together on this important issue. This motion deals with the devastating genetic disorder of spinal muscular atrophy, which follows a seminar presentation by the CEO and founder of the Spinal Muscular Atrophy Association of Australia, Julie Cini, held during the last parliamentary sitting. I know she is here tonight. I was in attendance during Julie's emotive presentation on the struggle and devastation faced by families of children suffering from SMA. It was an awakening. It was an experience that Julie faced with her two children, Montanna Jean and Zarlee Rose. I am in awe of Julie's inner strength. After facing such tragedy and adversity throughout her life, she has not allowed it to get the better of her. She is an inspiration to us all. As previous speakers have noted, SMA is the No. 1 genetic killer of children under two years of age. At the same time, it is a silent killer and one that has received little publicity. I note the wide interest among MPs here tonight to speak on this motion and associate themselves with such a worthy cause, and I take the opportunity to raise the case of a family within the electorate of Flinders. I do this on behalf of the member for Flinders, who wished to speak but, due to the limited opportunities of just eight speaking spots, could not.

The Gilchrist family lost a daughter, Ava, to type 1 SMA at just four months of age. The story told is one that is common to many families across Australia. Ava's grandparents, Aileen and Darryl, contacted the member for Flinders when they discovered that this motion was being debated. In an email, Aileen recounts the loss of young Ava to SMA as 'revealing myself as a carrier and two of my three children also as carriers of this regressive gene'. Aileen goes on: 'Once this gene is exposed in a family it is amazing how widespread it is in that family without knowledge of it until two of its carriers come together.'

What Aileen is referring to in the last passage of her email is that, when two carriers with a regressive SMA gene have a child, that child has a one in four chance of developing SMA. The rare genetic disorder is caused by the deficiency of an essential protein, SMN, and leads to the progressive deterioration of motor neurons in the spinal cord resulting in weakness and atrophy of muscles in the body, including the diaphragm and accessory muscles that support breathing, and progressive paralysis.

There is no known cure for SMA. Historically, nearly half of those born with SMA type 1 die before the age of two, and children with SMA type 2 generally die before adulthood. Some of the shocking statistics include the following: one in 35 people carries the regressive SMA gene. A baby with SMA is born every seven hours worldwide. Approximately one in 10,000 children is born with SMA, making SMA the most common cause of death by genetic disorder in children under two and the second most common autosomal regressive disorder after cystic fibrosis. Approximately 630 people die from SMA in Australia every year.

Genetic testing for SMA is available but it is not widely used and it is not eligible for a rebate under Medicare. But there is a glimmer of hope. Antisense oligomers, or AOs, have been used to modify gene expressions and are showing promise. I am proud to say that these advances over the last 16 years have been made here at home in Australia. Since then, and with funding from SMA Australia, clinical trials have commenced in Europe with successful proof-of-principle and preclinical studies. We must continue to fund this research and tackle this problem head on, not allow it to fall into the too-hard basket or overlook it entirely due to its rarity or the fact that the majority of sufferers are too young to have a voice. Let us be their voice and support this worthy cause.

I appreciate this opportunity to play a role in expanding the understanding of this disorder in this place and hope that this filters through to the public at large. We must all play our part in this. Finally, to Julie: congratulations. You are an inspiration to us all. No-one deserves the tragedy and hardships you have been through in your life. Keep going; you will eventually get there.

See this speech in context