SPEECH – Mackenzie and spinal muscular atrophy

6 September 2017

I rise to bring the attention of the chamber to a cruel disease called spinal muscular atrophy or SMA. It’s a relatively unknown illness, despite it being the No. 1 genetic killer of infants under the age of two in Australia. It is largely unknown because babies born with it rarely live beyond their second birthday. I’d like to share with the chamber the story of one couple who have had their world shattered by this illness. Their names are Rachel and John, and all members of the parliament would have received a letter from them introducing you to their young daughter, Mackenzie, who suffers from SMA. Mackenzie was the couple’s first child and they told me they couldn’t have been any happier. But, shortly after, their world was turned upside down. At 10 weeks of age, their little baby daughter was diagnosed as having SMA type 1.

This disease is a neuromuscular disorder characterised by the loss of motor neurons and progressive muscle wasting, often leading to death. It manifests over a wide range of severity, affecting both infants and adults, and is broadly divided into five types in accordance with age or onset of symptoms or from the highest attained milestone of motor development. In the case of Mackenzie, she was diagnosed with having the most common form of SMA, which is type 1. Type 1 is terminal. The prognosis for Mackenzie is devastating, cruel and quite unforgiving. The average life expectancy for infants with the condition is nine months at best.

In December last year, a clinical trial was commenced in Australia of a drug that, in some cases, can delay the onset of symptoms. It has also shown itself to be a big step forward in medical advancement and is currently being assessed by the TGA. However, it is not a cure and the prognosis for little Mackenzie remains the same. Rachel described to me how she felt as the medical expert advised them that Mackenzie had a terminal illness for which there was no known cure and that her life expectancy was likely to be less than one year. Rachel described how, as their world fell away, everything went blurry for her. Sounds muffled and she felt like she was collapsing. She remembers looking at her husband, John, and saying, ‘What just happened?’

For most of us, it is difficult, if not impossible, to imagine how such a devastating and shattering experience would feel—from being on such a positive high with the birth of their daughter to being told that their precious little baby will die, perhaps before her first birthday, and that there’s nothing she or they can do to change the situation. As I’ve said, the disease is a cruel and unforgiving condition. From planning and dreaming for the future of their daughter, their time is now spent arranging and giving the best palliative care for Mackenzie. In Rachel’s words: ‘I cannot adequately express the love we feel for Mackenzie. Rather than dreaming of Mackenzie’s future and imagining all the beautiful experiences of life that lay before her, we are now going to have to watch our baby slowly lose muscle movement, lose the ability to feed and swallow and, finally, lose the ability to breathe.’

Before Mackenzie’s diagnosis, Rachel and John had never heard of SMA. Neither had anyone amongst their families or friends. They were soon to learn that it is the No. 1 genetic killer of children under the age of two years. It begs the question: how is it that no-one has heard of this disorder?

One in 35 people in Australia are carriers of SMA. If two carriers have a baby, there is a one-in-four chance of their baby having SMA. These statistics are simply astonishing. This rare neuromuscular disorder is clearly not so rare. Rachel and John undertook all the tests offered to them before and during pregnancy, including genetic testing for more common genetic illnesses, such as Down syndrome. But they were not offered genetic testing to check whether either was an SMA carrier prior to conception. In most cases, such genetic testing is offered only if you have a family history. But four out of five children born with a genetic disorder do not have a family history of the disorder.

Today SMA is not curable, but it is 100 per cent preventable. A couple planning for a family today can find out if they are carriers through having a blood test during the pregnancy screening. Not only can this testing be undertaken before conception, but tests can also be undertaken for more severe genetic disorders, such as cystic fibrosis and fragile X. I’m instructed that this simple test to protect our community obviously only works as a prevention if people know about it.

Rachel and John are both proud to be federal police officers. They are made of fairly stern stuff. When confronted with such a personal tragedy, in their grief they looked to ways to help others and to turn their suffering to something of a benefit for others. They know they cannot change the outcome for Mackenzie, but perhaps their campaign can prevent others from going through such pain and suffering. Accordingly, while caring for Mackenzie they also make the time to push for greater awareness of SMA and increased access to carrier testing. It is through this initiative that I got to know Rachel and John and to know about their story and their aims.

When I met Rachel and John, I asked them what they were hoping to achieve and how we could help them. As Rachel explained to me, they have three main aims—although there is much that can be done in this space. They want to help raise awareness of pre-pregnancy genetic testing amongst people planning a pregnancy and among healthcare professionals. This testing already exists; people just need to know about it so that they can make an informed choice. There is a general lack of awareness of these genetic tests, and SMA more specifically, even amongst healthcare professionals. Secondly, they would like to encourage the federal government to consider subsidising pre-implantation genetic diagnoses during the IVF process for those couples known to be carriers of genetic disorders. This is currently being looked at by government and should be approved without further delay. They hope that eventually genetic testing becomes routine and subsidised to make it more accessible to all Australians. It is so much more effective for us to spend our money on increasing access to carrier testing than to pay for the medical, palliative and social costs associated with these disorders, to say nothing about the emotional impacts on in this case a child and their parents.

I’m pleased to say that there appears to be broad support across parliament for what Rachel and John are trying to achieve. Both the Minister and Assistant Minister for Health have begun looking at ways to assist in achieving these outcomes. In addition, the New South Wales health minister, Brad Hazzard, has met with Rachel, John and Mackenzie and has made a commitment to create a change for Mackenzie. In fact, our own federal Minister for Health has indicated that he has taken a personal interest in their representations. Rachel and John are thankful for the support they have received from some members of parliament, and now they hope that this support turns into action. For my part, I also pledge to do all I can to assist Mackenzie and her family to realise these sensible ideals. Our hearts remain with John and Rachel as they confront what is a very personal and enormously difficult struggle. I promise you that your efforts won’t be in vain.