Ross Vasta (Bonner, Liberal Party) Share this | Link to this | Hansard source

I move:

That this House:

(1) acknowledges that the month of August is Spinal Muscular Atrophy Awareness Month;

(2) notes that:

(a) spinal muscular atrophy (SMA) is the number one genetic killer of infants under the age of two in Australia and one in thirty-five people are carriers of SMA; and

(b) the Health Chief Executives Forum has encouraged all states and territories to include SMA in their Newborn Screening Programs following the success of the pilot program in NSW/ACT;

(3) recognises that the Commonwealth Government has invested significantly in the space of genetic testing and SMA treatment due to our strong economic management; and

(4) calls on the remaining state and territory governments to implement SMA testing into their Newborn Bloodspot Program, following the advice from the Health Chief Executives Forum.

Today I rise to speak on a matter that is very close to my heart. I rise to be the voice of every newborn and family currently on their own journey with spinal muscular atrophy and for those who seek to embark on this journey in the future. Spinal muscular atrophy, also known as SMA, sadly affects one in 10,000 births in Australia, and, with no cure, this disease is the No. 1 genetic cause of death for babies under two in Australia.

I first became aware of SMA through the story of baby Mackenzie in 2018. Since then I have taken every opportunity to raise awareness around SMA and speak on this matter in the House, because fighting for the lives of newborns and the lives of Australians is a matter of urgency, especially when there are treatments available. Little Mackenzie was diagnosed with SMA at just 10 weeks old and, sadly, passed away at just seven months old. Mackenzie's parents, Rachael and Jonathan Casella, have made it their mission to shine a light on this disease. On learning of their story, I had the privilege of working with Rachael and Jonathan to bring SMA to the attention of Minister Hunt and Minister Coleman. Their hard work resulted in the delivery of a $20 million study into reproductive genetic carrier screening, called Mackenzie's Mission, in the 2018 budget, and it was a core project as part of the $500 million Australian Genomics Health Futures Mission. Next Friday, 22 October, marks the anniversary of little Makenzie's life. Her story and legacy will forever leave a mark on the fight for more life-saving SMA treatments. My heartfelt condolences go out to the Casella family for the little girl that they miss so dearly.

Our government has remained committed to supporting babies with this horrible disease by introducing life-saving measures. During SMA Awareness Month, which fell during August, our government listed Evrysdi on the PBS. This medication has meant that families living with SMA now have access to less invasive treatment options. It has also meant these families may experience a reduction in visits to specialist hospitals. As a parent, all you want to do is protect your child from pain and suffering. Treatment options like Evrysdi are making sure that new families can enjoy one of the happiest times of their lives as they welcome their little one into the world. It means that they can make precious family moments that aren't tarnished by days, weeks or even months of sleepless nights at the hospital. It is giving and will give so many families hope at a time when it is needed most. I thank our government for this listing.

I'm a strong advocate for bringing awareness to SMA. There are families in my electorate of Bonner currently battling this disease, like locals Kate and Grant Gough and their beautiful baby Oakley. Just last week, Oakley celebrated her first birthday. I first met with the Gough family last year and have been working with them to bring awareness to SMA in Queensland. It has been a long and challenging journey for Oakley after being diagnosed at just eight weeks old, but to see how Oakley has grown and remained resilient during her first 12 months of life has truly been a privilege. She is one of the most precious and inspiring little fighters that I've ever met. Kate and Grant have shown Oakley the strongest and purest form of love. Oakley has recently been able to access Zolgensma, a life-changing gene therapy drug to treat babies with SMA. After just two weeks of accessing this drug, Oakley rolled over for the first time, lifted her head and scored 100 per cent in her physio assessment. She is now even able to enjoy sitting upright. I'm happy to report she is improving every day, but that doesn't mean life will be easy.

Had Oakley been screened for SMA as part of the newborn blood spot screening program, her quality of life might have been completely different today. It is incomprehensible that, had Oakley been born in a different state, that too might have meant a quality of life that would be completely different today. It is a disadvantage which should not exist in this country. Today, I also rise to bring attention to the lack of action from the Queensland state government on including as part of the NBS program a screening for SMA, which newborns in New South Wales and the ACT already receive. (Time expired)

Trent Zimmerman (North Sydney, Liberal Party) Share this | Link to this | Hansard source

Is the motion seconded?

Chris Hayes (Fowler, Australian Labor Party) Share this | Link to this | Hansard source

I second the motion. I thank the member for Bonner not only for bringing this motion before us but also for his ongoing advocacy in respect of spinal muscular atrophy. Looking back to August, that is the month when we recognise SMA. Not just is this a debilitating disease; it is a killer disease. It is the leading genetic killer of infants under the age of two in this country. To put the matter in greater perspective, one in 6,000 babies are born with SMA.

SMA is a rare motor neurone disease that causes progressive deterioration of the motor neurons, the spinal cord and the muscles surrounding the area, like those affecting the neck, the trunk, the arms and the legs. They are the muscles that control posture and movement and the respiratory muscles which control the breathing. Over time, coughing becomes very difficult. As a matter of fact, the inability to cough is one of the significant aspects of SMA that causes the death of children suffering from the disease.

Alarmingly, SMA occurs not only in children but also in adults. Many experience the late onset of this disease, particularly types 2, 3 and 4, and it has absolutely life-changing aspects. For many individuals impacted by SMA, the symptoms may develop as early as at three months of age, yet for others who are mildly affected by types 2, 3 and 4 the disease may not be visible until they are in late childhood or even, as I said, early adulthood. Sadly, children with type 1 SMA usually do not live beyond their second birthday.

Another statistic that it is worth acknowledging, given the importance of ongoing engagement with and awareness of the condition, is that one in 35 Australian adults carry the regressive gene that causes SMA, and most people are simply unaware of it. What that means is that, if one person is a carrier of this defective gene and has a child with another who is similarly a carrier of the gene, they have a one-in-four chance of having a child born with SMA. This is a statistic that should be a concern to all Australians, and that is why the Health Chief Executives Forum has encouraged all states and territories to include SMA in newborn screening programs, particularly following the success shown by the programs operating in New South Wales and the ACT. In fact, I'd go further and say that, given the success of the newborn screening programs, we should establish a national screening program that operates uniformly across all states and territories. This is where we require the Commonwealth to work cooperatively with all our states to at least establish a consistent outcome.

SMA is a matter close to home for my family, having witnessed the impacts of the dreadful disease. In 2010, my cousin, Tamara Hayes, lost her daughter, Summer, to SMA. You can imagine the absolutely tragic and devastating time that the family has had after losing a precious little girl. To Tamara's credit, she used her experience to become an advocate on this very important issue. Tamara advocates for others to ensure that they are aware of, and better equipped to deal with, SMA as a real issue with respect to their children.

I can't imagine the grief that families go through when they lose a child—it's simply beyond reckoning. But what it does mean is that we must do better. Clearly, we must work to ensure that better support is provided to families, including the availability of genetic screening, and to those families that are found to be carriers of the regressive gene. While there is currently no cure for SMA, there is certainly a lot of research being invested into this condition with respect to both genetic testing and SMA treatments, with some promising treatments now being tested in clinical trials. This is why we must continue to support the investment of further research into SMA and its treatments.

Bert Van Manen (Forde, Liberal Party) Share this | Link to this | Hansard source

It's a pleasure to rise on this motion moved by the member for Bonner, who has brought this important issue to the House to make our communities more aware of this life-changing and life-ending disease. Spinal muscular atrophy is the No. 1 genetic killer of infants under the age of two in Australia, as has been mentioned by the member for Fowler and also the member for Bonner. One in 35 people in Australia are carriers of the SMA gene.

The Australian government has invested significantly in the space of genetic testing and SMA treatment as part of its ongoing development to broaden the range of health services across this country. As the member for Bonner was remarking in his closing comments, we're now calling on the remaining state and territory governments to implement SMA testing into their newborn bloodspot screening programs, following the advice from the Health Chief Executives Forum. The newborn bloodspot screening programs in Australia are managed by the state and territory governments, and operate independently of each other. You would think that in the 21st century issues such as this would, from a health perspective, have some level of uniformity across our country. It's disappointing to note that there are still state governments who haven't introduced this additional screening to their NBS programs, and I'm sad to say that Queensland is one of those.

All of the states have committed to ensure quality and consistency across their programs through the NBS National Policy Framework, so I join the member for Bonner in calling for the Queensland government in particular to step up to the plate in this regard. Through the National Health Reform Agreement, the Australian government has made a funding contribution to the state and territory governments of 45 per cent of the growth of costs in all public hospital services, including population screening and NBS programs. The Commonwealth government has made the commitment to provide the funding to assist the state governments to roll these programs out, so I say there is no reason the state governments shouldn't be including these tests in their screening programs.

It was encouraging to see the recent trial project in New South Wales that demonstrated the effectiveness of screening for SMA in the newborn bloodspot screening program. I also recognise Western Australia's announcement of a test program for SMA testing, which will commence following assessment of the benefits and harms and the required resources in WA. Early detection through the NBS screening programs is vital in providing this life-changing information to families. Unlike a number of others that have already contributed to this debate, I have not had the experience of family, friends or people I know who have suffered the loss of a child as a result of spinal muscular atrophy, but I have seen the devastation in families who have lost young children for other reasons. I know the effect that has on families, and I would envisage it would be no different for a family who has lost a young child as a result of SMA. I think, as we've all reflected at various points in this place, no parent should have to bury their child. We can assist in making the lives of our children better by having these treatments and these processes in place to identify these issues early on in the piece, before the child is even born; it gives us the opportunity to provide the treatments that are necessary.

I'm pleased to say that this government continues to expand the PBS to include drugs like Evrysdi to ensure that these are now available to people who require treatment for SMA types who are aged 18 years or under. It's an oral form of treatment and therefore a less invasive treatment option for patients compared with spinal injections.

As I have said already, the government is seeking to ensure it provides the support for a range of health services across the country. I commend the government's work. I commend the work the member for Bonner has done in this space.

Mike Freelander (Macarthur, Australian Labor Party) Share this | Link to this | Hansard source

I would like to thank the member for Bonner for moving this motion and also the members for Fowler and Forde for their comments, which I won't repeat, because there is so much more to say. I've sat in a room and told parents that their child has SMA and there was very little we could do for them. There was a little girl called Molly who died of pneumonia just after her second birthday. It's a common way that children with type 1 spinal muscular atrophy die. It used to be called Werdnig-Hoffmann disease, named after the neurologists who first described it over a century ago, and we gave it that name because we didn't know what caused it. Then, with medical advances, it became known that this disease was caused by the death of the nerve cells in the spinal cord and brain stem that supply skeletal muscle, and it led therefore to the loss of that muscle and eventual death, usually from respiratory failure. Then we found the genetic cause: the vast majority are due to a defect in chromosome 5 in a gene that produces a protective protein for those neurones. So those neurones die, the muscle dies and the child dies.

We found the cause, but in the 21st century we now have treatments. We have treatments that will allow these children, who all would have died with type 1, to survive and live, we hope, a normal life. Australia is a wealthy country, and we can provide those treatments, but it's very important that those treatments start very early, before damage is done—and damage starts from day one of life. We have newborn screening tests that can now pick this genetic defect up, and treatment can begin very early. The first treatment was a treatment called Spinraza. Another one is a genetic treatment called Zolgensma, and there's a third one, called Evrysdi, that has come on the market. It is an oral treatment, which makes treatment even better. This, we hope, will allow these children to live a normal life.

Paradoxically, not every child in Australia with this disorder will be picked up in the neonatal period and be offered treatment in the neonatal period. And this diagnosis often is missed. It used to be missed because of a lack of diagnosis. So it's very important that we start early treatment, yet, shamefully, in Australia we have no national newborn screening program. In New South Wales these children can get picked up virtually at birth with a newborn screening test, but in Queensland they don't get picked up until the diagnosis is made, usually when much damage has occurred. It really is disgraceful that in a country like Australia we have such a terrible screening program that differs from state to state. This should not happen, and it is a shame on both Labor and Liberal parties that we don't have a national newborn screening program that is the same in every state.

I want to pay tribute to Felicity McNeill, the CEO of Better Access Australia, who has been trying her very best to make sure that Australia gets a national, uniform newborn-screening program. It is ridiculous that we don't have one, and it's vitally important that it happens as soon as possible so that these treatments can be offered before damage occurs. It's a shame on all of us that we don't have this, and it needs to be approached on an urgent basis. I find it continually frustrating in this place that we can't get urgent action that will save lives in such a simple manner.

The other issue that is important is that we should be offering these treatments to people over the age of 18 so that they can prolong their lives with these now readily available treatments. I think it's highly discriminatory that people over 18 cannot be offered these treatments. It's an urgent matter, and this government should immediately provide treatment for all people with spinal muscular atrophy who would benefit from the newer genetic treatments available.

John Alexander (Bennelong, Liberal Party) Share this | Link to this | Hansard source

One of the great things about representing Bennelong is representing Pill Hill at Macquarie Park. Modern medicines are incredible. Many of the conditions which were traumatic, debilitating or deadly for my parents' generation are now cured. No-one fears polio or smallpox anymore. We haven't heard of these in years. We can thank revolutions in medicine for this. Similarly, many of the diseases and conditions we have now will not plague future generations, and if we look closely we can see cures coming over the horizon right now. Many treatments that were death sentences within the last 10 years are now curable or at least manageable. We will die with these conditions, not of them.

Spinal muscular atrophy was a terrifying condition. It is a genetic condition that causes the degradation of muscles, leading to their atrophy over time. It was, as the motion said, the No. 1 genetic killer of infants under the age of two in Australia. But, with all due respect to my friend and colleague the member for Bonner, this motion has its tenses muddled. SMA was the biggest killer of infants, but it is now one of those conditions which we have the ability to consign to medical textbook history. We have done this in Australia through two things: testing and treatment. When one in 35 people carries the gene for SMA, testing is obviously imperative. The newborn blood-spot screening program has been a huge success in screening over 25 conditions in newborns. The ACT and New South Wales have recently run a pilot that added SMA testing to this program. This screened over 250,000 babies, and 21 had a genetic condition of SMA. Through the screening, those 21 babies are either on the PBS-listed treatment or accessing treatment through clinical trials, which we know has been life saving and has allowed them normal development. Since we know that the earlier you treat this condition to prevent the loss of function the better the health outcomes, this intervention will have massive implications for their futures. While adding things to the newborn blood-spot program is arranged at a state level, following these great results Western Australia has added SMA screening to its program, which is fantastic to see. I understand that the Minister for Health and Aged Care, the Hon. Greg Hunt MP, has written to all state and territory health ministers, urging them to consider the inclusion of SMA screening in their newborn blood-spot screening programs, and I hope this call will be answered across the nation.

Even recently, testing provided somewhat useless knowledge, as treatment remained elusive, but in June 2018 this changed, with the first-ever treatment for this devastating condition being listed on the PBS. This was Spinraza, and it is made by one of the companies on Pill Hill. The government invested in Biogen's drug, with $241 million to list Spinraza on the PBS for the treatment of patients under the age of 18 with types 1, 2, and 3A SMA, from 1 June 2018. The listing of Spinraza was expanded from 1 December 2020 to include treatment of children and infants under 36 months with presymptomatic SMA. Without PBS subsidy families would pay more than $367,000 a year for this treatment. Meanwhile, Roche's Evrysdi was listed on the PBS in 1 August 2021 for the treatment of patients with SMA types 1, 2 and 3A who are aged 18 or under at treatment initiation. Without PBS subsidy around 100 patients a year would be paying more than $123,000 for their treatments.

Behind these figures are real families with loved ones who now have a bright future. One such family lives locally to me in Willoughby, New South Wales. Matilda MacDonald was born with type 1 SMA and would probably have died had she not accessed Spinraza. She is now a boisterous five-year-old who is keen to start school. While she needs a little help with things, she is growing into an independent young person. At a time when we are fixed on a vaccine helping us to open up, it is clear and obvious to all that medicines can change lives. But in some cases medicines can do more than change lives, they can give life. These two treatments represent the opportunity to live for children who otherwise would not have that opportunity. I can encourage testing across Australia. We have the opportunity to take the terror out of SMA.

Debate adjourned.