Michael McCormack (Riverina, National Party) Share this | Hansard source

Spinal Muscular Atrophy is the No. 1 genetic killer of children under two years of age. However, very few people have ever heard of it and are unaware that one in 35 people carry the gene. Research published in the Lancet, the world's leading medical journal, indicates prevalence of SMA is about one in 10,000 live births. The carrier frequency is about one in 50. SMA, although rare, is an inherited disease which results in the loss of nerves in the spinal cord and weakness of the muscles connected with those nerves. The muscles most frequently affected are those of the neck and trunk which control posture, and those of the legs and arms which control movement, and those of the area of the ribs which help breathing. When we want to move our body we do so without thinking—our motor nerves send the message from our brain to the muscles telling them to move. In a person with spinal muscular atrophy their movement is affected as their motor nerves stop this message from getting from the nervous system to the muscles. Over time the muscles become weak and atrophy.

People with SMA generally appear normal at birth. Symptoms develop as early as three months in the most severely affected, at around one to two years of age in the moderately affected, and more rarely in late childhood or early adulthood in mildly affected individuals. There are four main types. The severity of the condition and the life span depend on the type of spinal muscular atrophy a person has. Type I is the most severe and affects infants who rarely make it to their second birthday. How tragic is that. In contrast, adults with type IV are likely to have a normal lifespan, albeit with mobility and possibly other spinal muscular atrophy related problems. The child with infantile spinal muscular atrophy rarely lives beyond three years of age. There is no cure and treatment can only ease any associated complications. Thousands of stories of heartbroken parents flood forums, blogs and social networks describing the pain and loss of losing their child, born without any problems only to pass away before they were old enough to know the joy they brought to their families in the short space of time they were with them.

One story which struck me was Alex Lack, born on 8 October 2010. His big blue eyes are what draw you to hear his story, his smiling face masking the pain he endured in the small time he was here. His mother wrote on behalf of his family:

Alex was born on 8.10.2008 at 18.08, seemingly healthy. Around 4 weeks we noticed he wasn't moving as much as other babies of his age.

A week later he was diagnosed with SMA type 1, a terminal disease which doesn't have a cure.

He was given maximally 6 months of life, but he didn't even reach 3 months ... he passed away of breathing failure on 1.1. 2009 exactly on his sister's birthday.

SMA was completely unknown to us, as we didn't have any previous family history, our older daughter Madison is healthy, pregnancy was no problem, uneventful.

Later on we found that 1 in 40 people is a carrier of this genetic disorder, and if 2 carriers have a baby, there is 1 in 4 chance the baby will develop SMA ... 1 in 6,000 newborns is affected by SMA.

These are heartfelt words from a heartbroken mother.

Awareness of this disease is important as it is an inherited genetic disorder which is rarely detectable during pregnancy. Up to one in 40 people carry the gene responsible for the condition and each pregnancy of two carriers of the disease has a 25 per cent chance of the child being affected. Like Alex's mother, most often parents have never heard of spinal muscular atrophy until their child is diagnosed. They are usually unaware of their carrier status and unlikely to be aware of the family history.

I commend the member for Fowler for bringing this particular motion to this chamber and for his moving speech earlier this evening. I also acknowledge the members for Barker and Bruce for their words. Australia's Muscular Dystrophy Association has more information on its website about spinal muscular atrophy and neuromuscular disorders, and I encourage all those interested, particularly members of parliament, to find out more about this important medical matter. Spinal muscular atrophy is a silent killer. The more we know about it, the more awareness we have, the greater our chances will be to combat it.

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