Jason Wood (La Trobe, Liberal Party) Share this | Link to this | Hansard source

Recently, I met with local resident Julie Cini at the Berwick Show. Sadly, Julie told me the heartbreaking story of her two children, Zarlee and Montanna, that she tragically lost at a very young age to spinal muscular atrophy, also known as SMA. For the last 12 years, since she lost her second child to SMA, she has dedicated her life to fighting SMA and she is also the national president of Spinal Muscular Atrophy Australia. She has even written a book about the journey entitled Leaving Life Legacies. Julie is an amazing woman.

It is important to understand a few facts about SMA. SMA is a degenerative motor neuron disease. It affects infants, children and adults worldwide. It is suggested that the incidence of SMA occurs in one in 10,000 births. To date, there is no known cure. SMA is a genetic condition whereby the nerves of the spinal cord's anterior horn cells deteriorate—atrophy, meaning waste away—and eventually die. Put simply, SMA not only wastes away the muscles you see, like arms and legs, but also internal muscles used for coughing, swallowing and breathing. How heartbreaking is this for parents?

What causes spinal muscular atrophy? SMA is a genetic disease caused by abnormalities in the SMN1 gene, the survival of motor neuron 1 gene. One in 35 Australians carry the folding gene. Being a carrier does not mean you are affected by the disease. SMA occurs in babies when both parents are carriers of the gene and match up and have a child. In this case, there is usually a one in four chance of having a baby with SMA. But, if only one parent carries the folding gene, there is usually only a one in 2,500 chance that you will have a child affected by SMA.

But all hope is not lost. A new drug has been developed, called nusinersin or Spinraza, as it is commonly known. Spinraza, while very expensive at $700,000 a year per patient, is life changing and potentially life saving for many sufferers. However, it must be administered at the presymptomatic stage. The great news also has been that in the United States it was passed through the FDA on 23 December, making it a welcome Christmas miracle to many parents and families. Here I stand today with Julie to fight to ensure we have it listed on our PBS and to make sure we have this drug one day available in Australia. Again, Julie, congratulations for all the work you are doing for other sufferers of SMA. Thank you very much.