Patrick Secker (Barker, Liberal Party) Share this | Hansard source

I am sure the member for Fowler is on his way. The parliament must thank the member for Fowler for bringing the issue of spinal muscular atrophy to the attention of the parliament. I am the first to admit that I knew nothing about this until the member for Fowler brought to the parliament a group explaining spinal muscular atrophy, or SMA as it is commonly known. It is an inherited disease. It is believed that one in 35 people carry the gene that causes SMA. When two carriers have a child, they have a one in four chance of having a baby with SMA. That is interesting because, if you look at the parliament, on average there would be at least four of us that are carriers of SMA. I would suggest that most people would not know because it is a recessive gene.

SMA is a degenerative disease which causes loss of nerves in the spinal cord. Muscles become weaker over time and this weakness affects the muscles that assist with breathing, along with affecting arms, legs and neck muscles. SMA is the second most common autosomal recessive disease after cystic fibrosis. I think everyone has heard of cystic fibrosis. If this parliament can make more people aware of SMA I think we would be doing a good job. A baby is born with SMA every seven hours around the world. Spinal muscular atrophy babies catch germs very easily, so tasks such as washing hands before touching the baby are vitally important. There is no known cure for SMA. Babies born with the most severe type of SMA, type 1, rarely live beyond two years of age. Babies with SMA type 1 have normal intelligence and appear lively and alert like other babies. Diagnosis of SMA type 1 is often only made shortly before death and management is largely palliative in nature. Babies with type 1 are very fragile. Respiratory support and supplemental feeding can prolong life but a majority of babies succumb to the disease within the first 12 months.

It is estimated that approximately 630 people die of SMA every year in Australia. Genetic testing for SMA prior to or in early pregnancy is not widely publicised and the test does not attract a Medicare rebate. The cost is currently about $400 to the individual. Genetic testing for SMA is not routine in IVF either, which means that IVF babies can be and have also been born with SMA. The majority of individuals are diagnosed with type 1. However, there are a small number that have a milder disease and greater life expectancy, which is known as type 2 and type 3. SMA type 2 and 3 sufferers require different levels of support and medical care. Various pharmacological treatments give benefit to some patients but do not address the primary problem, which is caused by a deficiency of the SMN protein. SMN protein is essential for life and insufficient SMN prevents motor neurones from surviving and connecting with muscles, resulting in muscle wasting, progressive paralysis and death before the age of two years.

SMA Australia was founded by CEO Julie Cini after she tragically lost both her children to the rare disease. At the tender age of 10 months Julie's firstborn child, Montana, died from SMA. Julie told Sue White in the Mother and Child magazine of 2010 that everything went okay until the end of the pregnancy. Julie said that when Montana arrived she seemed fine but at three months they discovered she was not moving like a normal baby should. After being referred to the Royal Children's Hospital, Julie was told that Montana had SMA. She was told that the disease was rare and there was nothing she could do but take young Montana home and love her as much as possible, which she did. Montana died in hospital before her first birthday.

After the loss of Montana, Julie wanted to do something about the lack of support she had during Montana's illness, so SMA Australia was born. SMA Australia would like to see some important changes in the way SMA is dealt with. The first is carrier and prenatal testing. As I mentioned earlier, testing is not routinely carried out for this disease. If individuals are aware of the disease and want to be tested to be excluded, they must pay $400 to be screened. Carrier testing for the SMA gene could prevent the continuance of the disease. Sufferers of SMA need 24-hour care during their lifetime, and this is a huge burden on the health system. SMA Australia is calling for gold standard care and multidisciplinary clinics. Sufferers of chronic neuromuscular diseases need appropriate proactive care. These clinics offering standardise treatments should be available to all families, according to SMA Australia. The third point SMA Australia makes is that government rebates on the purchases of cough assist machines would enable these lifesaving devices to be used to manage the SMA sufferer at home and therefore reduce the amount of time spent in hospital. These machines are $12,000 each, and SMA Australia only has a limited number in its equipment and resources library. These have been purchased purely by fundraising efforts and philanthropists.

The fourth point made by SMA Australia surrounds research. The ongoing cost of research is a huge task for a small organisation, but SMA Australia believes that the benefit for the public purse would be immense should research funding lead to a cure. Further on research into SMA, there have been some promising clinical trials surrounding antisense oligomers, or AOs as they are known. AOs have been used as 'genetic bandaids' to modify gene expression. They have shown promise in clinical trials in another fatal inherited childhood muscle-wasting disease, called Duchenne muscular dystrophy.

AO compounds can be designed to alter the processing of a genetic message in a specific manner which results in the restoration of the expression of a missing protein. Western Australian scientists have been developing these compounds for 16 years, resulting in recent clinical trials for muscular dystrophy in the UK. SMA Australia made an approach to this group in late 2008, and seed funding of $20,000 led to preliminary data that was sufficient for a research project application to be made to the National Health and Medical Research Council and the European SMA association.

The application for the Australian funding was unsuccessful, and the researchers noted at the time that spinal muscular atrophy was not an NHMRC keyword. The researchers found this to be an extraordinary omission, given the severity of SMA. The European application, however, was successful and two years worth of funding was granted. This support, along with that from SMA Australia and individuals, allowed researchers to apply the expertise developed while working on muscular dystrophy to design compounds to treat SMA. This research has led to successful proof-of-principle preclinical studies, a funding application with UK collaborators to support clinical trials, and a provisional patent. All this has occurred in a little under two years from the initial approach by SMA Australia.

SMA is generally overlooked, along with other rare diseases, perhaps because the affected children are only here for such a short time. SMA Australia are seeking to raise awareness of the disease, but they cannot do it alone. SMA marketing trainee Elvira Alic, an SMA type 2 sufferer herself, and Julie Cini have come up with a unique marketing idea to raise awareness of SMA. They have used Australia's love affair with coffee to spread the message 'Take away SMA' by printing it on takeaway coffee cups. These cups are now used all over Canberra and Melbourne, and SMA hopes to raise money to purchase cough assist machines, which SMA has 15 of currently on loan to sufferers such as Elvira around Australia. I think we should thank the member for Fowler for bringing this cause to the parliament. I hope that we can sincerely as a parliament decide to ensure that that funding continues into the future.

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