Patrick Secker (Barker, Liberal Party) Share this | Link to 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.

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

I thank my honourable colleague for his contribution and his interest in spinal muscular atrophy. Only recently we organised a forum in Parliament House, and I know that the member for Barker was one of those who attended and that he has continued his interest in this very debilitating disease.

Very few things are as tragic as losing a loved one, which I have only just been through, having lost my father last week. It is even more devastating when you lose a child, an infant. Last month was Spinal Muscular Atrophy Awareness Month, a month where the SMA association wanted to actually ensure that people start thinking about this very debilitating disease, a killer disease. I seek to draw your attention, Mr Deputy Speaker, to the causes as, alarmingly, it is the leading genetic killer of infants under two years old in Australia. That is something I just did not know a couple of weeks ago. I am advised that internationally it is well recognised that a baby is born every six to seven hours with this disease. Spinal muscular atrophy is a rare motor neuron disease that causes progressive deterioration of the motor neuron and the spinal cord and the muscles surrounding that area. Muscles most likely to be affected are those around the neck, the trunk, the arms and the legs, the same muscles that control our posture, our movement and the respiratory muscles that control our breathing. Over time coughing becomes very, very difficult. As a matter of fact a lack of ability to cough is one of the things that actually people do die from. Alarmingly, it occurs not only in children but also in adults. A lot of people have had late onset of this disease and it has absolutely life-changing ramifications.

Just another statistic which is again something I was absolutely unaware of: one in 35 Australians carry the regressive gene and, regrettably, most people are unaware of it. Now, we do not know it in our family histories and if one carrier of a defective gene has a child with another carrier of that same gene, they have a one in four chance that their child will be born with spinal muscular atrophy. SMA is not a disease that is usually evident at birth itself, nor is it routinely tested for. For the most severely affected individuals, the symptoms develop as early as about three months and yet for those only mildly affected, evidence of this disease may not become manifest until a child is in their late childhood or even early adulthood. But I must advise that children with type 1 SMA usually do not see their second birthday. Tragically 52 Australian lives are lost every month to this, so far, incurable disease.

The greatest risk for parents coincides with the birth of their first child. This was horrifically the case for the CEO and founder of the Spinal Muscular Atrophy Association of Australia, Julie Cini, who is sitting in the visitors' seats second from the left. As the member for Barker just recounted, Julie lost two daughters to this disease, Montana when she was about 10 or 11 months old in 2005 and her daughter Zurlee that she lost in 2007. I also am aware that around about the same time she also lost her husband in a very tragic farming motor accident. Julie Cini, using her training, particularly in the disability sector and community service areas, now works tirelessly not only to raise awareness about SMA but also especially doing things within the medical community, providing a support network to those families affected, families that until they actually physically have the onset of this disease are completely unaware of it, as I was a few weeks back.

The issue is very close to home because Tamara Hayes, my cousin, is here with her mum and dad and she too lost her daughter, Summer, only last April. I have got to say it was an absolutely tragic and devastating experience for a family but it is certainly a credit to Tamara and the support of her mum and dad, Steve and Carol, that she now takes on the role of heavily getting involved and volunteering for the association to offer emotional support. The association also offers free medical equipment, a toy library, information and a network for other families who have been afflicted by this dreadful disease. Julie and Tamara and the SMA Association of Australia have been working tirelessly to raise awareness and provide support for other families. SMA Australia is currently the only support association for sufferers of this debilitating disease. It is a not-for-profit organisation and a charity but receives no ongoing funding from any government, state or federal. The association is urging the public to provide support to families. They have listed practical things they think could make a difference—things such as the provision of manual or powered wheelchairs; special beds; bath and toilet chairs; support and standing frames; breathing equipment; support seating equipment; switch toys for children; and travel assistance, particularly for regionally based families that must go to cities to be treated in hospitals.

In addition to the call for public support, the association has recommended several policy initiatives that they would like to pursue with government that they strongly feel would make a very significant, practical, beneficial change in the lives of sufferers and their families. First and foremost the association is calling for a national awareness and screening program. They advocate that routine testing and carrier testing for the SMA gene can prevent the continuation of this disease. Currently, individuals have to request such a test and it comes at a personal cost of somewhere between $380 and $400, none of which is rebatable from Medicare. Through this initiative, couples who are deciding whether to start a family would at least be able to avail themselves of the necessary information before pregnancy as to whether they are carriers. As I said, if they are both carriers they have a one in four chance of having a child with SMA.

SMA is also not tested in the IVF program. Subsequently, there have been numerous cases of IVF babies who have been born with and died of SMA during infancy. If this disease cannot be prevented, sufferers must have access to the appropriate, proactive care. Families with a member affected by SMA spend so much time visiting multiple healthcare areas. In order to ensure easier access to all-round care, it is suggested the community should consider access to multidisciplinary clinics offering standards of care for patients and their families.

The provision of government rebates and subsidies should also be recognised to enable the purchase of life-saving equipment such as the cough assist machine. As I said a little earlier, it is the lack of the ability to cough that generally causes death as a consequence of this disease. Providing rebates for such machines not only helps ease the financial burden; it also allows families the opportunity to look after and care for loved ones at home, as opposed to using hospital facilities.

In addition to these practical initiatives, the association is calling for spinal muscular atrophy to be listed as a keyword with the National Health and Medical Research Council. Though the association is making every contribution it can to further research into this genetic abnormality, public funding is desperately needed. Like SIDS, SMA is a silent killer and those suffering undoubtedly deserve our assistance.

I urge members of the House to take the opportunity to meet with members of the SMA Association to understand this debilitating disease and to be able to make a difference by being able to speak up about it. I welcome the opportunity to speak here tonight. (Time expired)

Alan Griffin (Bruce, Australian Labor Party) Share this | Link to this | Hansard source

I want to thank and congratulate the member for Fowler for bringing this matter before the parliament. I note his contribution and also that of the member for Barker. I will endeavour to try and cover some other elements of this particularly tragic and debilitating disease, although, given the central nature of their contributions, there will be a certain amount of overlap. I also only have five minutes, as is the nature of the structure of the debate today, so I will endeavour to be briefer than I would normally be. I will start by reading into the record an e-mail I received from a constituent whose family has been touched by this terrible disease.

Dear Mr Griffin,

My name is Jan Hill. The Spinal Muscular Atrophy Group represented us in a letter to you recently. My husband Brian I had two amazing daughters, Laura and Suzanne, who were both diagnosed at about nine months of age with SMA—Werdnig Hoffmann disease. Laura was born in 1978 and Suzanne was born in 1982. Both girls were in electric wheelchairs by the time they were four years old (neither had ever walked on their own) which gave them the independence they so needed, although that was somewhat limited to where the wheelchairs were accessible. Laura and Suzanne at different times attended the local Pre-school Rosswood where my husband made a ramp up to the front door. They both attended Rosewood Downs Primary School with the support of the principal and some wonderful teachers. My husband also made some ramps there so that the girls could access different rooms. The Education Department provided money for a ramp to a portable which was the music room. Originally I went to school twice a day but was on call all day every school day. After the first year and a half we managed to have a nurse visit the school at lunch times (whom we paid for) which helped immensely until many submissions to the Education Department later we were able to employ an Aide who remains one of our dearest friends. The girls were extremely bright both becoming Dux of Year 10 and Year 9 respectively at Lyndale Secondary College in Dandenong North. Accessibility there was somewhat limited and it was quite a job to get the Education Department to provide some money for some ramps. Even then there were areas that the girls could not access. Hopefully new schools being built today are totally inclusive. It has been some time since our daughters died (Laura at nearly 17 years of age in 1994 and Suzanne at almost 16 years of age in 1997). No amount of time minimises the impact they have made on everyone who knew them. Meeting Julie Cini a few years ago was heart-warming and somewhat confronting at the same time. She is an amazingly passionate person who seeks to get a better deal for everyone touched by SMA. Her own story is one of great sadness yet she is focused on bringing her story and the SMA Group to everyone's attention so that others might have the help and support that she and others did not have. I hope your meeting yesterday with Lynette and Elvira helped you to see for yourself not only what Elvira has to deal with on a day to day basis, just as our own daughters did, but also what the SMA group as a whole has to offer all families who are dealing with this very sad disease. It would be wonderful for our Government to become aware of this amazing group who work tirelessly to raise funds and awareness of SMA within communities. Perhaps with that recognition might come some big steps toward research specifically on SMA and hopefully genetic screening.

I do hope that you will be able to take Julie's message forward when the debate comes up in Parliament. You will be representing so many families of children and babies who have not had a chance of life and also those who have amazing talents and abilities but who are severely restricted by SMA. A small voice in the wilderness can certainly be the start of something bigger don't you think.

Yours sincerely

Jan Hill.

I did recently meet with representatives of SMA, both today and last week, in my electorate. Jan mentioned Elvira Alic, a young lady I met with who is struggling with SMA type 2, who is an example of courage in the face of absolutely horrific adversity. It was an honour and a privilege to meet her and to hear her story and those of others who are suffering from this debilitating disease. Others have made the point that it is often at a very young age that these children are tragically taken from their families. But in the case of Elvira—and the daughters of my constituent—the circumstances where it is clearly type 2 have resulted in debilitating conditions being experienced over many years. Elvira has exceeded the life expectancy for her circumstances and remains an example to all of the terrible conditions that we can face and of how to handle that in a stoic manner and with great courage. I urge the parliament: this is a matter which the government needs to look at. The sorts of conditions that we are dealing with here, and the sorts of examples about the future of policy here, I think are matters we should be endeavouring to take forward. (Time expired)

Michael McCormack (Riverina, National Party) Share this | Link to 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.

Jill Hall (Shortland, Australian Labor Party) Share this | Link to this | Hansard source

On Thursday 25 August I attended a meeting that was arranged by the member for Fowler and I was privileged to sit in the room with parents and grandparents who have been associated with spinal muscular atrophy and to hear their stories. I have to say that I was very close to tears as I sat there and heard Juli talk about her two beautiful children and to hear how she lost her husband and to learn that it has become a mission in her life to provide information to work for a cure and to not sit back and say, 'Poor me,' but actually get in there and try to make a difference and provide support to all those parents who find themselves in that desperate situation that she has been in. It is a privilege to actually have been associated with her. In this job so many of us end up seeing people who come to us with real complaints and they are absolutely devastated by the cards that life has dealt them. Instead of doing that, Julie was there saying, 'I'm going to make a difference; I'm going to change it'. I would like to commend her for that and commend the member for Fowler for bringing this important motion to the parliament.

When I went along to that meeting I did not know that one in five people carry this gene. It just shows you what a lottery it is; how fortunate all those parents are who have very healthy children. I did not know that when two parents of a child have that gene that there is a one in four chance of having a baby with SMA. I did not know that and I am a person who has been really involved in health issues for 20 or 30 years. It is something I did not know about. I felt that if I did not know about it, then the majority of the population would not know about it. I think it is really important to get that message out to people. The simple fact is that, around the world, a baby is born with SMA every seven hours. That is incredible; they are incredible figures. That shows that this is such an important issue. Genetic testing is an absolute imperative. We need to get behind the research that is being undertaken in a big way. We need to do something to stop the suffering of parents and not to forget those little people who are born with SMA. We need to address it and we need to ensure that the testing takes place and from the testing that proper research takes place and from the research then work towards developing a cure so that this is a disease that does not impact on any more parents.

In my role as a member of parliament I actually had a constituent at one time who had a little girl who had this illness. She nursed her, she looked after her, she ventilated her and she did all that hard work. There was not a day or an hour that she regretted putting in the effort to sustain her little girl. I know that SMA is the greatest killer of babies. I think that as a society, a parliament, a government we need to get behind the research that is needed to address this issue. We need to make sure that our society is educated about it and we need to act now to do every single thing that we can to support Julie and her research.

Congratulations, Julie, on the wonderful work and all those people who are here with you tonight on all the effort that you have put in to addressing this important issue. Thank you.

Craig Kelly (Hughes, Liberal Party) Share this | Link to this | Hansard source

Firstly, I would like to congratulate my neighbour in south-west Sydney the member for Fowler for moving this important motion. Although we do not always agree with each other, it is good that we can come together on this important issue. This motion deals with the devastating genetic disorder of spinal muscular atrophy, which follows a seminar presentation by the CEO and founder of the Spinal Muscular Atrophy Association of Australia, Julie Cini, held during the last parliamentary sitting. I know she is here tonight. I was in attendance during Julie's emotive presentation on the struggle and devastation faced by families of children suffering from SMA. It was an awakening. It was an experience that Julie faced with her two children, Montanna Jean and Zarlee Rose. I am in awe of Julie's inner strength. After facing such tragedy and adversity throughout her life, she has not allowed it to get the better of her. She is an inspiration to us all. As previous speakers have noted, SMA is the No. 1 genetic killer of children under two years of age. At the same time, it is a silent killer and one that has received little publicity. I note the wide interest among MPs here tonight to speak on this motion and associate themselves with such a worthy cause, and I take the opportunity to raise the case of a family within the electorate of Flinders. I do this on behalf of the member for Flinders, who wished to speak but, due to the limited opportunities of just eight speaking spots, could not.

The Gilchrist family lost a daughter, Ava, to type 1 SMA at just four months of age. The story told is one that is common to many families across Australia. Ava's grandparents, Aileen and Darryl, contacted the member for Flinders when they discovered that this motion was being debated. In an email, Aileen recounts the loss of young Ava to SMA as 'revealing myself as a carrier and two of my three children also as carriers of this regressive gene'. Aileen goes on: 'Once this gene is exposed in a family it is amazing how widespread it is in that family without knowledge of it until two of its carriers come together.'

What Aileen is referring to in the last passage of her email is that, when two carriers with a regressive SMA gene have a child, that child has a one in four chance of developing SMA. The rare genetic disorder is caused by the deficiency of an essential protein, SMN, and leads to the progressive deterioration of motor neurons in the spinal cord resulting in weakness and atrophy of muscles in the body, including the diaphragm and accessory muscles that support breathing, and progressive paralysis.

There is no known cure for SMA. Historically, nearly half of those born with SMA type 1 die before the age of two, and children with SMA type 2 generally die before adulthood. Some of the shocking statistics include the following: one in 35 people carries the regressive SMA gene. A baby with SMA is born every seven hours worldwide. Approximately one in 10,000 children is born with SMA, making SMA the most common cause of death by genetic disorder in children under two and the second most common autosomal regressive disorder after cystic fibrosis. Approximately 630 people die from SMA in Australia every year.

Genetic testing for SMA is available but it is not widely used and it is not eligible for a rebate under Medicare. But there is a glimmer of hope. Antisense oligomers, or AOs, have been used to modify gene expressions and are showing promise. I am proud to say that these advances over the last 16 years have been made here at home in Australia. Since then, and with funding from SMA Australia, clinical trials have commenced in Europe with successful proof-of-principle and preclinical studies. We must continue to fund this research and tackle this problem head on, not allow it to fall into the too-hard basket or overlook it entirely due to its rarity or the fact that the majority of sufferers are too young to have a voice. Let us be their voice and support this worthy cause.

I appreciate this opportunity to play a role in expanding the understanding of this disorder in this place and hope that this filters through to the public at large. We must all play our part in this. Finally, to Julie: congratulations. You are an inspiration to us all. No-one deserves the tragedy and hardships you have been through in your life. Keep going; you will eventually get there.

Robert Oakeshott (Lyne, Independent) Share this | Link to this | Hansard source

I too rise to congratulate the member for Fowler for introducing this important motion and getting debate going in this House on this important topic. I also congratulate Julie Cini and the likes of Professor Andrew Kornberg, who have been leading the charge on trying to get many of us to understand SMA, some of the basic differences between dystrophy and atrophy and the implications of those differences. Like 22 million of us and like, I am sure, many of the 150 members of parliament I am guilty of probably not understanding or knowing enough about SMA until I was faced with it personally when a former friend I played football with, Simon Munro, met the love of his life, Donna Liver, whom I am sure the network all know about. Their lovely son Finn was diagnosed with SMA, and from Port Macquarie they started the very long journey to understand (a) what it was, (b) what to do about it and (c) to campaign on many of the broader issues still unaddressed in public policy that could help a lot. On a personal level, I congratulate Simon and Donna for turning something which was a shock at the time and which caused a great deal of distress for them and their family into plenty of positive energy. I can report to the House that Finn, having been diagnosed two years ago, is doing very well in the loving care of his two parents and is also getting some fantastic treatment via Melbourne and the work of Professor Kornberg and others.

But there is still plenty of work to be done. I am pleased to see that the Australasian Neuromuscular Network has been formed and I really encourage anyone who reads or listens to this to go to their website, www.ann.org.au, to really get the better understanding of what we are talking about and what needs to be done. There are policy issues that I hope the minister for health will take away from this debate, such as the points I made before about not having SMA sit under the muscular dystrophy banner and getting it to stand on its own legs and that it continues to be labelled as a chronic disease. I have heard every speaker already mention the fact that the majority of SMA deaths occur before the age of two, and that needs to get much more consideration in public policy. Also, for parents like Simon and Donna who are absolutely fighting for the survival of children like Finn, a great deal of help and support is needed through the maze of the health system. A family from Port Macquarie working their way through the system and ending up in Melbourne to get some support should not be an example of the way this works, if it is working. This is an example of how state and federal health systems can and should do a lot better.

There is a need to have SMA listed as an NHMRC keyword. Even though the government is assuring everyone involved and I understand that it is not a problem, the network, and certainly Donna herself, wants it to be recognised and listed so that there can be research and medical and clinical trials done as a consequence of that keyword being there. I hope that that is considered. Another point that has come up in conversations with Donna and Simon, and also in the speeches I have heard so far, is the surprise of so many of us with regard to the prevalence of the regressive gene. Therefore, there is a need for genetic testing in a more systematic way so that the carriers, if they do find each other and, with Cupid's arrow, fall in love, can at least make mature and difficult decisions in the full knowledge of the implications. So I would hope a more systemic basis around genetic testing could be considered.

It is fantastic that this is being debated. I congratulate the network on pushing the member for Fowler and all of us to get this issue up the public policy pile and I hope that SMA is now starting to find its place and that the health department responds accordingly. (Time expired)

Russell Matheson (Macarthur, Liberal Party) Share this | Link to this | Hansard source

I rise to speak about the heartbreaking disease spinal muscular atrophy and the devastating effect it can have on a child and their family. To help raise awareness of SMA I would like to share with you the story of a little girl named Brittney McKenna, from my electorate. Brittney's parents, Debbie and Andrew, described her as a social butterfly, a bright, bubbly and beautiful young girl with an infectious smile who always saw the glass as half full. She loved people and had the ability to make friends with anybody who crossed her path. I first met Brittneysix years ago and her zest for life, cheeky smile and bright personality have left a lasting impression on me that I will never forget. Sadly, Brittney was nine years old when she died in 2008—a beautiful life cut too short under heartbreaking circumstances. Brittney was diagnosed with SMA when she was 15 months old after more than a year of testing and weekly monitoring due to weak muscle tone, loss of deep tendon reflexes and an inability to walk, crawl or roll on her own. When she was diagnosed at Sydney Children's Hospital, her parents were told there was no cure and no treatment, and that the condition was terminal. Debbieasked all the basic questions. Would her daughter ever walk? Would she grow up? Would she have children? She was told that Brittney would never walk, would not live long enough to have children and would face huge respiratory complications throughout her life. I have two beautiful daughters myself and cannot imagine being told that my baby girl would probably die before she finished primary school.

After her diagnosis, the next eight years for Brittney and her family were intense. In total, of the nine years of her life, Brittney spent more than five years in hospital. SMA is an extremely difficult disease to live with. The loss of nerves in the spinal cord causes muscles to become weaker over time. The weakness not only affects the arm, leg and neck muscles but also the muscles which assist in breathing and eating. Brittney's muscles were so weak that she could not eat without choking and could not cough when she needed to and, at times, she struggled to breathe. She had 41 surgeries in her short life and suffered from severe scoliosis, chronic pain, ongoing pneumonia and multiple lung collapses. She had central apnoea which caused her to stop breathing in her sleep and her mum would often have to resuscitate her.

Children living with SMA are very bright, with above average intelligence, but unfortunately their bodies cannot keep up with them. Brittney was only four when, knowing she was going to die, she asked her mum, 'When I go to heaven, can you catch a plane to visit me when I'm lonely?'—a heartbreaking question that no parent should ever have to answer.

While telling Brittney's story, I must also mention the lack of funding and respite for families living with SMA. There was limited support offered to Brittney's family and no respite because she was classified as too high medical support and under palliative care. Brittney's mum was proficient at all her medical needs, including IV medications. At five years old, Brittney had IV feeding fluids through a central line in her heart, 24 hours a day, a tube in her stomach for some of her medications. She also had a large bowel completely removed at age seven. In between all the years spent in hospital, and the 41 surgeries and the 24-hour intensive care for their daughter, Debbie and Andrew also had to do their own fundraising for equipment, and home modifications to support Brittney. Life by the hospital bed included a constant struggle with red tape, bureaucracy, budgets and politics in an attempt to get some support. Brittney's longest single admission to hospital was 21. Her dad, Andrew, was working interstate to support the family financially. Her mum, Debbie, was by her hospital bed 24 hours a day. Their son Liam was passed around between family and friends to give him some stability and routine in life. With the help of the community, the family raised hundreds of thousands of dollars to give Brittney the life she deserved. It is no wonder that they were left financially, physically and emotionally exhausted.

It is the lack of government support and the memory of her beautiful daughter that has inspired Debbie to work with other families who have children living with disabilities and illnesses in Macarthur. She is a staff member of KU Starting Points—Macarthur, a not-for-profit organisation in my electorate that runs several programs and a great support network for the local families. Debbie said that her wish was for all children to have the right to be their best and to know no boundaries to their abilities. Despite the heartache and pain Brittney's family have been through, her parents say they were blessed to have such a beautiful daughter who touched the lives of so many and left a lasting impression on the Macarthur community.

I hope that telling Brittney's story will raise awareness of SMA and encourage families living with the condition to take one day at a time and enjoy those precious moments with their children. And while aeroplane trips to heaven might not be possible, I am sure Brittney is watching over her family with an enormous amount of pride as they strive to make this world a better place for all children living with disabilities and their families. Rest in peace, dear Brittney; you will always be remembered by your family, friends and community. I thank the member for Fowler and other members for bringing an awareness of SMA to this parliament.

Maria Vamvakinou (Calwell, Australian Labor Party) Share this | Link to this | Hansard source

Order! The time allotted for this debate has expired. The debate is adjourned and the resumption of the debate will be made an order of the day for the next sitting.