Scott Morrison (Cook, Liberal Party, Shadow Minister for Immigration and Citizenship) Share this | Link to this | Hansard source

It is my privilege today to move the following motion in this House in the presence of Sean Murray, the Chief Executive Officer of the Australian Mitochondrial Disease Foundation, who joins us today, along with Julie Adams, in the gallery. I move:

That this House:

(1)   notes that:

(a)   mitochondrial disease:

(i)   is an incurable and debilitating genetic disorder that saps the body's cells of their energy; and

(ii)   reduces the ability of mitochondria to produce energy required for vital bodily functions, disrupting important muscle and organ function and leading in some cases to organ failure or death;

(b)   a child is born every 30 minutes who will develop a mitochondrial disease before their tenth birthday;

(c)   one in every 200 people is affected by mitochondrial disease, but many are misdiagnosed;

(d)   each year 50 children will develop a severe or life-threatening form of mitochondrial disease;

(e)   there:

(i)   is a widespread lack of awareness about this disease, its symptoms or effects; and

(ii)   are few effective treatments for this disease; and

(iii)is currently no cure for this disease;

(f)   clinical trials are underway however, research into this disease requires greater monetary and community support and recognition;

(g)   scientists have linked mitochondrial dysfunction to other major diseases including Alzheimer's disease, Parkinson's disease and diabetes; and

(h)   advances in treatment for mitochondrial dysfunction could also improve treatments for millions of people who suffer these other illnesses;

(2)   recognises that:

(a)   16 to 22 September 2012 is Global Mitochondrial Disease Awareness Week;

(b)   23 September 2012 is Global World Stay in Bed Day to raise awareness and funds for research into mitochondrial disease; and

(c)   the Australian Mitochondrial Disease Foundation has been working since 2009 to support patients and their families, spread information and raise the profile of this disease in the community and medical field; and

(3)   calls on the Government to:

(a)   encourage the public and private sectors to promote greater awareness of mitochondrial disease;

(b)   help raise the profile of mitochondrial disease within the medical profession to overcome the lack of knowledge that contributes to misdiagnosis and improper treatment of this condition; and

(c)   ensure there is appropriate support for patients of mitochondrial disease and their families.

Vivian French wrote a picture book that is a favourite of my two daughters, who are aged three and five, and it is called Polly's Pink Pyjamas. It tells the story of a little girl named Polly who wears her favourite pink pyjamas all day long. She does so by choice because she cannot decide what to wear to a children's birthday party. But for many children and adults who suffer from mitochondrial disease they have no choice about being bedridden. Mito is an incurable and debilitating genetic disorder that saps the body's cells of their energy. Being forced to stay in bed and recharge is a common symptom of the disease, and around the world a child is born every 30 minutes who will develop mitochondrial disease before their 10th birthday.

Every cell in the body contains mitochondria. These are the power plants that generate the energy organs and muscles need to make the body move and work as it should. This disease reduces the mitochondria's ability to produce energy, disrupting organ and muscle function, in some cases leading to organ failure. The heart, brain, lungs and muscles are most affected. The disease is life threatening. Unfortunately, there are few effective treatments and there is currently no cure.

One of the big challenges is raising awareness of this condition. How do you try to treat something that can present with any symptom in any organ at any age? Mito was thought to be quite rare in the 1990s and was believed to affect just one in 20,000 people. New research reveals that one in every 200 Australians is affected. That is, they carry genetic mutations that put them at risk of developing the disease or related conditions in their lifetime. Many are misdiagnosed or asymptomatic. That works out to be about 110,000 Australians—more than would fit into the Sydney Olympic stadium and enough to fill Shark Park in my electorate many times over.

Known in the medical field as the notorious masquerader, mito exists in several hundred different forms with varying effects including strokes, seizures, gastrointestinal problems, kidney and heart difficulties, muscle failure and liver disease. The disease can appear at any age and doctors cannot predict how it will progress. So little is known about mito that patients are sometimes only diagnosed on their deathbed. Many patients see a merry-go-round of specialists, at great cost, unfortunately with little result. In some cases doctors send them to psychiatrists or psychologists, convinced that there is nothing actually physically wrong with them. Greater awareness about mito and proper diagnosis could lead to more effective treatments much sooner, not to mention saving thousands of dollars on consultations and medical expenses and bringing patients some peace of mind that at least they can put a name to their debilitating condition.

The third week in September, where we are now, is Global Mitochondrial Disease Awareness week, when leading foundations in America, Europe, New Zealand and Australia campaign together to raise awareness and support for mito patients. The highlight is World Stay in Bed Day on Sunday, 23 September. This is a poster which talks all about mito Stay in Bed Day, which is on Sunday, 23 September. I seek leave to table that for the benefit of members.

Leave granted.

The idea is to throw a pyjama party or a 'bed in' where you wear your PJs to school or work to show support, as persistent fatigue is one of the first signs of the disease. There are clinical trials and research programs under way, but greater awareness and funds need to be raised so that important scientific work can continue. Researchers have also linked mitochondria with diseases like Alzheimer's, Parkinson's disease and diabetes. They believe that advances in the way we can treat mito disease could help improve treatments for the millions who suffer these other illnesses.

Today's motion recognises in this place the widespread unpredictable nature of this disease, as well as its severity, and seeks to promote a greater understanding of mito and support for patients. Last month, the New South Wales Legislative Assembly agreed to a motion to recognise Global Mitochondrial Disease Awareness Week, while a similar resolution has gone before the US Senate. An early day motion before the House of Commons last year put this disease on the public record in Great Britain. I am pleased today to introduce this motion to recognise the dedication of the Australian Mitochondrial Disease Foundation here at home. The AMDF has worked tirelessly since 2009 to support patients and their families spread information and raise the profile of this cruel and debilitating disease.

Dr Karen Crawley of Gymea in my own electorate of Cook has helped run the foundation for a number of years now, inspired by her 13-year-old daughter Kara's battle with this illness, which I spoke of in this place on a previous occasion. Like many children who suffer from mito, Kara is slowly losing her senses and brain function. It is literally a daily struggle for her devastated family and Karen has been told by doctors that she and her 11-year-old son Braden could also be affected by the illness. Karen's daughter now has developed dementia and forgets to call her 'Mum'. In Karen's words:

With a few years at most to live, our gorgeous girl is disappearing. I am literally watching my daughter slowly die in front of me and there is nothing I can do.

It is dedicated volunteers like Karen who have driven the foundation forward, living today with hope for tomorrow, and the willingness of gutsy patients who are helping make headway into the research. Karen herself is a GP. She runs a 24-hour helpline on her mobile for patients, families and medics with questions about mito. Since 2009, the AMDF have committed more than half a million dollars to research. Before this there were no specific mito studies. The AMDF has funded five PhD research projects and organised support groups in Sydney, Brisbane, Melbourne and Perth. They run information days at research facilities across the country, including the Murdoch Childrens Research Centre in Melbourne, the Kolling Institute of Medical Research at Royal North Shore Hospital and the Children's Hospital at Westmead. The foundation has set up a nationwide patient database and is working to sync it with other global genetic registries. The foundation has funded new medical facilities and equipment like priority access to the next generation DNA sequencing facility at the Royal Perth Hospital, to facilitate faster, cheaper and more accurate diagnosis.

In my electorate each year, the Cook Community Classic raises funds and awareness for more than 30 local community organisations and we have a longstanding affiliation with the Australian Mitochondrial Disease Foundation. Community groups like Caringbah Rotary work hard to support the wonderful work of the AMDF. With encouraging research and burgeoning information and support networks, we are making progress but there is still much to be done in both the field of medicine and the wider community.

This motion today is one step forward toward achieving greater recognition and demonstrating our support for those living with mito. I encourage all Australians to show their support—including those in this House—for the Global Mitochondrial Disease Awareness Week by buying a pin and wearing their PJs with pride on World Stay in Bed Day. Polly did not need an excuse to wear a pink pyjamas, but if you ever needed a reason to sleep in on a Sunday, raising awareness for mitochondrial disease is certainly worth while.

As we sit here and reflect on the many other matters before this House, may we this week spare a thought for those who are suffering under this condition, suffering in the uncertainty that reigns around it but pushing on in the hope that there will be a cure and greater recognition. I commend the motion to the House.

Kelvin Thomson (Wills, Australian Labor Party) Share this | Link to this | Hansard source

Is the motion seconded?

Sussan Ley (Farrer, Liberal Party, Shadow Minister for Childcare and Early Childhood Learning) Share this | Link to this | Hansard source

I second the motion.

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

I would like to congratulate the member for Cook for bringing this very important motion to the House. This is an opportunity to raise awareness of mitochondrial disease, to make people aware that it is quite common and that it is very debilitating. I would like to add my support to his motion, to congratulate the mitochondrial society of Australia on the work they do and to pledge my support to help them in any way I possibly can. This week, 16 to 22 September, is Global Mitochondrial Disease Awareness Week. The aim is to raise awareness of the disease amongst the community—and the medical profession, since one of the issues with the disease is that doctors do not immediately look for it. Mitochondrial disease is an incurable disorder which saps energy from the cells in our body with debilitating effects. It is a disease referred to as the 'notorious masquerader' because it mimics many other illnesses in both children and adults.

Five years ago, the term 'mitochondrial disease' did not seem to exist. It is a little-known disease which many people, including GPs as mentioned, are still not fully aware of. It is not, however, a new condition but one with a history of misdiagnosis due to the variety of symptoms associated with the disease—I will go through those symptoms a little later. Our bodies are made up of cells and the mitochondria are the batteries of those cells—providing them with energy. Mitochondria take in energy from the food we eat and that energy is then used to power the nucleus and hence control the cells in our bodies.

Mitochondria are themselves very complex organelles and each one requires over 1,400 genes to create. Mitochondrial disease is a genetic fault in the mitochondria—a hiccup in the production of mitochondria from the time of conception. Due to this gene fault, some mitochondria grow abnormally. How many unhealthy mitochondria develop varies greatly from cell to cell and organ to organ. Mitochondrial disease is best summarised in the phrase 'any organ, any symptom, any age'. This is because mitochondria are found everywhere in the body, so mitochondrial disease can present differently in each and every person.

New presentations of this disease are still appearing regularly. We presently know of around 100 different types of mitochondrial disease and there is potential for more. The severity of the effect on body function depends on many things, including the location of the mitochondrial defect in the body and the number of unhealthy mitochondria. Some mitochondrial disorders only affect a single organ, although most involve multiple organs. The organ systems which work the hardest and the longest in our body, and thus supply the most energy, are the most affected by mitochondrial disease.

Mitochondrial disease is characterised by a multiplicity of symptoms, varying in type and severity, so making diagnosis extremely difficult. A person with advanced mitochondrial disease may present with many symptoms, while a healthy person suffering this silent genetic defect may present none at all. I heard the member for Cook talk about how his constituents worry about the fact that, whilst they are currently free of this disease, they may develop it in future. People who share the same genetic defect can also present with different symptoms. So you can see why it is called a masquerader.

Diagnosis of mitochondrial disease is problematic because it looks like so many other illnesses. The common symptom is fatigue—not the common type you feel after you have had a long and hard day, but a fatigue which feels like hitting a wall. If a person is well rested, they may feel as though they have normal energy levels. When mitochondria are working hard, a person can experience extreme fatigue, often struggling to get out of bed. These fluctuations in fatigue often make it hard for a person to present their case to the doctor. There are many different symptoms. They can vary considerably. When symptoms arise in three or more organs, the possibility of mitochondrial disease should definitely be considered. Poor growth; failure to thrive; muscle weakness; poor coordination, sensory, vision and hearing problems; reduced mental functioning; disease of organs such as the heart and deliver, which is very common; dementia—we heard about that from the member for Cook—respiratory problems; hypoglycaemia; apnoea; lactic acid disorders; seizure; gastrointestinal disorders and swallowing difficulties; developmental delays; movement disorders such as dystonia, muscle spasms and tremors; stroke; diabetes; and brain atrophy are some of the very different ways that mitochondrial disease can affect people.

This disease is nearly as common as childhood cancer and yet I suspect if you were to ask people in the community about mitochondrial disease you would find that not very many people know about it. One in 4,000 children born in the United States every year will develop mitochondrial disease by the age of 10. In adults, many diseases of the ageing can be attributed to defects in mitochondrial functioning.

As I have already said, this is a disease that has enormous impacts, and it is a disease for which there is no cure. Some of the treatments include trying to remove stressors and taking vitamins, but there is research taking place at the moment into trying to solve the puzzle. As has already been mentioned, diagnosing the disease is difficult and for practitioners it is often like putting together the pieces of a jigsaw puzzle. It is a process that begins with the family GP and progresses to a mitochondrial specialist.

Considering the possibility of mitochondrial disease is the most difficult part. GPs recommend that mitochondrial disease be suspected when a common disease has atypical features and/or three or more organ systems are involved and there are recurrent setbacks or flare-ups with infections in a normal chronic illness. Basic investigations such as blood tests and eye and hearing tests can be used to begin diagnosis and they can be followed up with tests in individual organs. However, genetic testing is not a practical tool for diagnosis of mitochondrial disease given that each of the 1,400 genes which make up a single mitochondria would potentially have to be tested. It is usually up to the right specialist to make a clinical diagnosis based on the symptoms and the results of investigations. Mitochondrial disease is also being increasingly linked with mainstream illnesses. Relatively little is known about this very serious and very common disease.

The other part of the motion refers to World Stay in Bed Day, which is this Sunday, 23 September. For many of us thinking about staying in bed, this will be an opportunity to indulge in a guilt-free lazy Sunday, but for people suffering from mitochondrial disease it demonstrates a fact of life. We can join with those people and have, as the member for Cook suggested, a pyjama party, or we can simply think about the great impact that mitochondrial disease has on people. (Time expired)

Greg Hunt (Flinders, Liberal Party, Shadow Minister for Climate Action, Environment and Heritage) Share this | Link to this | Hansard source

It is a great honour to support the member for Cook, the member for Shortland and this motion on mitochondrial disease. This debate shows the parliament at its very best, and in my judgement the parliament is at its very best when it focuses on two primary functions. We only have two constitutional functions; they are, firstly, to make laws and, secondly, to represent our electorates. This motion comes from the lived experience of the member for Cook and many others as representatives of families and children who have great challenges. I know from my own experience that two causes with which I have had the honour, and indeed the joy, to be involved are juvenile diabetes, working with the Juvenile Diabetes Research Foundation in particular, and autism, working with Autism Victoria.

Against that background we see the issue of mitochondrial disease. Mitochondrial disease affects up to 100,000 Australians. We know that, worldwide, every 30 minutes is born a child who will develop mitochondrial disease before their 10th birthday. In Australia approximately one in every 250 people is affected by some version of mitochondrial disease, although we believe that much of it is misdiagnosed and has yet to be fully recognised.

Let us understand what it is we are talking about. Mitochondrial disease is a largely incurable genetic disorder that essentially saps the body's cells of their energy. It reduces the ability of the mitochondria to produce the energy required for critical bodily function—it disrupts muscle and organ function and in some cases leads to organ failure or even, tragically, to death. It is a disease of heaviness that limits our ability to be our full selves. I was reminded of John Donne's meditations and his Variations upon Divergent Occasions. I was literally contemplating on the way into the chamber the phrase: 'No man is an island, entire of itself, each is a piece of the continent, a part of the whole. If a clod be washed away by the sea Europe is the less as well as if a promontory of thine own were'. It goes on with the critical phrase: 'each man's death diminishes me, because I am of mankind. Therefore, never seek to know for whom the Bell tolls, it tolls for thee'.

This topic reminds us, as parliamentarians, of our good fortune and our responsibilities. Each day, and this is a largely untold part of the story of the best of the parliament, each member of this parliament encounters in their own electorate people who, for whatever reason, need or cause, desire and are in absolute need of assistance. Mitochondrial disease is one of those hidden problems that we as a society face.

We recognise that there are serious problems in relation to awareness, research and support. In terms of awareness, not many Australians—hitherto including me, I have to confess—have been fully aware of what mitochondrial disease means, in terms of the scope, with nearly 100,000 Australians suffering some form of mitochondrial disease, or the impact. The effects of its progressive impact on organs range from modest through significant, leading to a crushing lack of energy, to preventing them carrying out their most vital functions, at its worst. It affects our vital organs—in many of the worst cases the organs of the youngest of children—which are then unable to do their thing. We need to be more aware. We need champions. I honour and respect the member for Cook, who has raised this as his issue. He is a great friend and I am pleased that mitochondrial disease has a champion in the parliament. I am sure that there will be very strong support. I honour the support of those on the other side who speak today. So we recognise that there is an issue around awareness. Secondly, there is also an issue around research. Significantly, this disease is not just largely unknown but one where the diagnosis remains difficult and the treatment undeveloped. There are things we can do to deal with many of the symptoms, but the causes are one of the frontiers. This century, in my judgement, will be, among other things, the century of communications. It will be an environmental century in terms of the changes we make to the by-products of our modern life. But in particular, of all of the different radical transformations, I think it will be the century of biotechnology. One of those items in desperate need of research and development and cure and treatment is mitochondrial disease. The impact on individual lives is profound.

I want to deal with a particular case study, one which we have been given permission to use: that of Joanne Edwards from Melbourne and her daughter Annaliese. Annaliese is an 18-year-old young lady. She has had a major tremor in her hands, to the point where she cannot cut the food on her dinner plate or eat the food off a spoon. She struggles to put that food onto her fork or to write her name, let alone to pen an essay, whether on the computer or by hand. That same tremor, caused by mitochondrial disease, is also in her speech and her limbs, making it difficult for her to go about the ordinary things which we take for granted in our lives. She has been knocked with falls. She has been taken to hospital by ambulance. There are challenges in her development. And she went undiagnosed for 12 years, despite the fact that her family had taken enormous steps to find out what it was that was challenging their daughter.

Annaliese's particular strain and mutation of mitochondrial disease is not life-threatening in and of itself. It may not be as severe as other mutations. However, it does make her day-to-day life exceptionally tough. And then there are those—and I considered looking at the case studies but chose not to—where the lives of young children were not able to pass through and they have been lost to their families. As a parent, that is every parent's nightmare—not just to lose a child but to lose them through a long, slow, tragically painful process where their child wastes away in front of them. What could possibly be worse? So we have a great human task—a moral responsibility, and I absolutely do not shy away from that—to support the research.

That leads me into the third part of what I wish to talk about, and that is the general notion of support. There are two things that we need to do. One is to deal with the research—to actually embark on a federal program—and this is a difficult time. Our nation's budget is in a very bad place and it appears, day to day, as if things are getting worse. But, that aside, in a budget which will be well over $300 billion I am sure that we can find some money somewhere for vital research which is about saving lives, protecting lives and improving the lives of those who are truly the most vulnerable. If we cannot do that then we have some serious questions as legislators, executors and representatives to ask ourselves.

We also have a duty to raise awareness. How do we support? We raise awareness. The more that we can talk about this issue the more we may take away stigma, in the same way that awareness about juvenile diabetes and autism has helped take away stigma. That is a very important part: many of these children may be stigmatised, because that can be the nature of our school environment. So we have to improve our general schooling environment, but we also have to provide specific information: that this disease of tiredness is an issue, a condition—something which is not within their control. And that is why this Sunday is Stay in Bed Day. I will be sponsoring my good friend, the member for Cook, to stay in bed, and I would encourage all Australians to sponsor him to do so on that day!

More seriously, I thank the member for bringing this motion. I commend its sentiments, and I believe that we have a deep duty to support research and awareness and to take all the steps we can to help those with mitochondrial disease. (Time expired)

Andrew Leigh (Fraser, Australian Labor Party) Share this | Link to this | Hansard source

I join the member for Flinders in strongly supporting the member for Cook staying in bed; I think there is bipartisan consensus on that point! More seriously, I commend the member for Cook for bringing this motion before the House. Too often, discussions about health care operate at the very high level—the millions of dollars that are spent, the institutions, the hospitals, the doctors, the researchers—and sometimes there is value in a particular motion that focuses on a single disease, highlights the plight of sufferers and allows us in this place to focus briefly on their stories and what we can do to alleviate their suffering.

I must confess that, of all the diseases that scare me, a fatigue related disease is perhaps my greatest fear. In common with many in this place, I quite enjoy doing too many things, so the description of mitochondrial disease as feeling like you are hitting the wall strikes me very much. That is why Stay in Bed Day, on Sunday, 23 September, is an appropriate way to recognise sufferers of mitochondrial disease.

Mitochondrial disease was discovered fairly recently and research on it is ongoing. There is a great deal we do not know about it, but we do know that its symptoms are various and severe. They can include deafness, eye disorder, dementia, muscle weakness, heart disease and kidney disease, to name but a few. I note in passing that one of the syndromes of mitochondrial disease is called Leigh Syndrome, which reminds me that researchers who ask for their own names to be given to a disease are brave people indeed.

The ongoing research into mitochondrial disease is of a piece with the increasing research on what has come to be known as personalised medicine. It is research which recognises that treatment for certain genetic disorders—mitochondrial disease can be caused by mutations to mitochondrial DNA—may require personalised approaches, treatments that are tailored to an individual's genetic structure. That is bringing health researchers and genetic researchers together—and some of that high-level gene research is taking place at the Australian National University. The John Curtin School of Medical Research is one of the great powerhouses of medical research in Australia, and I believe it is through research bodies such as the Curtin school that we are going to make great breakthroughs on mitochondrial and other diseases.

However, at present, as the Australian Mitochondrial Disease Foundation website notes, 'there is no cure, treatment is limited and diagnosis is difficult, costly and often missed'. That is because the mitochondrial mutations are due to the lack of an error-checking capacity of nuclear DNA. Consequently, mitochondrial disease is potentially tied in with disorders such as Alzheimer's, autism and cardiovascular disease—hence, any breakthroughs on mitochondrial disease may well affect our understanding of many other conditions.

I believe that there are two things that are at the core of dealing with mitochondrial disease. The first is ongoing research, what I think of as the push factors, for getting to a solution for mitochondrial disease, whether that is a vaccine or some other form of treatment. But there has also been increasing interest among economists on improving the pull factors—the attractiveness of finding treatments for diseases for which we do not yet have treatments. The GAVI Alliance, formerly the Global Alliance for Vaccines and Immunisation, is currently experimenting with advance market commitments. Advance market commitments are commitments by countries to purchase certain amounts of vaccines. They have been used with great success with pneumococcal vaccine. They have been discussed for use with potential vaccines for malaria and HIV. As policymakers, we need to bring all of the innovation to dealing with a problem of this kind that scientific and medical researchers bring to thinking about the disease itself. There may be a role for advance market commitments in the future as a way of encouraging researchers to find the prize.

One of the benefits of advance market commitments is that they are available to anyone who comes up with a solution, whether that is an established research team or a group of mavericks who are working in a lesser-known institution or even outside an institution. An advance market commitment rewards ingenuity, and we need as much human ingenuity as can be brought to bear on diseases like mitochondrial disease and other diseases for which vaccines do not exist, such as malaria and HIV. I commend that policy tool to the House as a valuable way of addressing diseases about which we do not yet know enough.

I commend the member for Cook for his hard work on finding a solution to mitochondrial disease and am grateful to him for his continued advocacy on this issue.

Steve Irons (Swan, Liberal Party) Share this | Link to this | Hansard source

I rise to support the motion before the House moved by the member for Cook. The member for Cook's motion is very pertinent and self-explanatory, with a lot of information. I will read out some parts of it which I think should be mentioned in the House:

(a) mitochondrial disease:

(i) is an incurable and debilitating genetic disorder that saps the body’s cells of their energy; and

(ii) reduces the ability of mitochondria to produce energy required for vital bodily functions, disrupting important muscle and organ function and leading in some cases to organ failure or death …

The motion says that there:

(i) is a widespread lack of awareness about this disease, its symptoms or effects;

(ii) are few effective treatments for this disease; and

(iii) is currently no cure for this disease;

(f) clinical trials are underway, however research into this disease requires greater monetary and community support and recognition;

(g) scientists have linked mitochondrial dysfunction to other major diseases including Alzheimer’s disease, Parkinson’s disease and diabetes …

The motion also says that the House:

(2) recognises that:

(a) 16 to 22 September 2012 is Global Mitochondrial Disease Awareness Week …

Mitochondrial disease is quite frankly a terrible disease. It can effectively shut down the organs of the body one by one until it becomes life threatening. For those with a less severe condition, the fatigue this disease induces is life altering. When I read through this motion, I saw many parallels with a disease that I have been advocating about over the last three years: the condition of adhesive arachnoiditis. They are both diseases that have struggled to be recognised by authorities. As the member for Cook said in his opening statement, mitochondrial disease has only been recognised as a disease in its own right within the last five years.

Mitochondrial disease is known as the notorious masquerader, in that it exists in several hundred different forms, with symptoms such as strokes, seizures, gastrointestinal problems, kidney and heart difficulties, muscle failure and liver disease, and doctors often understandably fail to identify mitochondrial disease as the specific cause. In fact, so little is known about mitochondrial disease that sufferers are often diagnosed on their death bed, with many patients moving from doctor to doctor, at great cost but to no avail and with no diagnosis.

Mitochondrial disease results in severe fatigue in the short term and organ failure in the long term. This element of fatigue is recognised by World Stay in Bed Day, organised by the Australian Mitochondrial Disease Foundation, which encourages people to raise money for the cause by hosting a pyjama party or sleeping in, which I am sure many members in this place would relish the opportunity of doing. This disease changes lives. It has knock-on effects for the family around them, who provide extraordinary levels of care. I think we need to always remember in this place the strains that are placed on all aspects of family life by these diseases. I would like to give some examples of people who have suffered or are suffering from mitochondrial disease.

Pam Hausler: AMDF volunteer, mitochondrial disease sufferer. Pam has mito, as does her son. They discovered this after the diagnosis and death of her 19-year-old daughter, Shayli. Pam noticed that Shayli, from a baby, was different. Shayli did not feed well: she simply got too tired and fell asleep after less than two ounces formula. Shayli was never able to breastfeed through lack of energy and poor sucking reflexes. She was slow to grow, and although she smiled early she could not sit at all. When Shayli was about 10 months, Pam was taking her into the Adelaide children's hospital for physio on a daily basis. Here she also had access to other therapies, and at 11 months Shayli started attending the Woodville Spastic Centre in Adelaide as the youngest ever patient.

Shayli was described as having atypical cerebral palsy. At 14 Shayli had the first seizure, which, although a shock, seemed an inconvenience rather than anything else. Shayli was in and out of hospital, and she lost partial vision after an episode where she fitted for 12 days and went into a coma for a while.

These episodes by now were being referred to as a massive seizure, a huge migraine or perhaps a stroke—but, no, it could not be a stroke because scans showed no bleeds on the brain. What was it? Shayli was tested for everything currently known to science but all came up blank. Eventually in June 1990, Shayli was in a coma from which she never recovered and she died in August aged 19. At that time the condition of mitochondrial disease had just been recognised, so Shayli had a diagnosis of MELAS in the July just before her death.

The next story I'd like to relate is from Penny Andrews of Western Australia. This is what she wrote, which I have condensed to fit into the time limit:

My husband Steven and I have four special, fantastic, gorgeous, much loved children—William, Georgia, Dimity and Thomas.

Our two gorgeous girls—Georgia who is nine and Dimity who is six—are both such good fun, full of life, great at sport and love their friends and school. And then we have our two great, loving boys: Will who is ten and Thomas who is six, who are also both full of life. They, however, are not so healthy or as active as our girls, due to a debilitating and potential fatal genetic disorder … mitochondrial disease.

It was a disease neither Steven, nor I, had ever heard of before it arrived in our family.

Our firstborn son William was diagnosed with mitochondrial disease at just three, but only after enduring many doctors, endless tests and various misdiagnoses.

He'd developed slowly, struggled with his feeding, had tortacollis (wry neck), and was a shocking sleeper—just a really difficult baby. My GP at the time told me Will was just a lazy boy, a clumsy boy: oh, he just has low muscle tone, he will strengthen up … don't worry about it.

But as time went on things just weren't right and we started on the hunt for answers. During this time I had my second child, Georgia, who was a healthy and happy dream baby, thank goodness.

Just before Will turned two, we finally got in to see a specialist who took one look at Will and told us he had cerebral palsy. We were referred to another neurologist. The good news was Will didn't have cerebral palsy, but the bad news was that he had brain lesions, with a movement disorder. But this didn't give us a diagnosis to explain why our son just couldn't do what his other two-year old mates could … walk, feed himself, catch a ball, hop, float, ride a bike, hold a paint brush, or build with blocks.

I switched to practicalities, hoping that with ongoing physio and speech therapy all of this early intervention will fix our little boy. We went on with our lives with a wobbly, clumsy Will and Georgia. We kept going back to see the neurologist for routine visits, but no answers. Will hadn't got any worse but he hadn't got any better. Then the next bombshell hit: I was pregnant with twins. Will was only just three and Georgia was 18-months old. In the meantime poor Will the human pin cushion was a target again. This time we were referred to a neurogeneticist. What does a neurogeneticist want with our family? In May 2003, our lives took a turn for the worse: we were the ones responsible for Will's condition. This was the first time Steven or I had heard the words 'mitochondrial disease' or, in our case, 'Juvenile Leigh's disease', one of a hundred types of mito disease.

This was crazy. This 'whatever it is' is a genetic condition that we both passed on to our son. But how can our daughter be okay? I remember asking, 'She is okay, isn't she?' 'Yes, Georgia is fine, but'—that long pause—'it's about the twins you're carrying. There is a 25 per cent chance that each of your twins could have it.'

When our twins came along, Dimity met all her milestones easily, but her twin Thomas lagged behind. Steven and I got a sinking feeling that we'd seen it all before—and we had. This time we knew how to get the diagnosis and more about what we were dealing with. Thomas was diagnosed with Juvenile Leigh's at just nine months of age. We watched Thomas eagerly, hoping he might somehow recover or that it was a mistake, but now, at six years of age, our youngest boy's symptoms are more severe than William's were at the same age. Thomas now needs his walker every day. His eyesight is also deteriorating and he has respiratory problems, poor growth, swallowing difficulties and laboured breathing. At times it's difficult to understand his speech.

William is now ten ... His life has never been really easy for him: the constant health setbacks, the constant fatiguing of his body, the rapid deterioration of his vision and his developmental delays. It's something no parent wants to ever see. We used to watch him struggle to walk ... now he needs a walker every day at school because he gets so tired—and a walker helps to ensure his safety. Some days he is so fatigued he struggles to put one foot in front of the other. It is heartbreaking that as a parent you cannot give your child the right answer. We would love to be able to tell him everything will be okay and that he will get better soon   , but we can't as we just don't know what lies ahead for him.

We all want to try and do something positive about a condition that's anything but. I and others, including Dr Lamont, have set up the WA branch of the Australian Mitochondrial Disease Foundation, which aims to fund research into the diagnosis, treatment and cure of mitochondrial disorders, and to support those who are affected. Steven and I now watch both our boys and wonder what mitochondrial disease is going to do to them. We simply don't know. We live our lives with uncertainty and fear as at present there is no cure... and all we have is hope.

I support this motion calling for the Government to encourage the public and private sectors to promote greater— (Time expired)

Michelle Rowland (Greenway, Australian Labor Party) Share this | Link to this | Hansard source

I support this motion on mitochondrial disease and I commend the initiative of the member for Cook in bringing it forward. As a new mother, I think I can say what a lot of other parents know. When you are becoming a parent for the first time, it is very exciting, but, at the same time, you experience a sense of worry which is beyond any worry you thought you would ever have. When I was pregnant, I was doing a lot of work in the disability sector in support of an NDIS. That raised my own awareness about disability and it made me think a lot about the health of my unborn child—whether she would be born with any conditions or whether she would develop any conditions. I became very aware of the reality of illnesses which affect children.

Although my daughter appears to be a very healthy baby, it is indeed something when you hear about the experiences of people with children who are suffering from disease. You really cannot begin to understand the pain they experience or the ongoing struggle in their day-to-day lives. In this place you get an opportunity to do a lot of interesting things—and often some very good things—but I do think it is the cases and stories of individual constituents which bring a human face to what we do in this parliament.

In echoing the words of the member for Swan, who has just spoken, I would also like to raise the story of Pam Hausler, who is one of my constituents. Like the member for Swan, I asked for permission to tell this story. I did so because I think it sums up very accurately what the journey of mitochondrial disease must be for people who are suffering from it or who are family members of someone suffering from it. As was mentioned, Pam Hausler is a volunteer with the Australian Mitochondrial Disease Foundation in Sydney and I commend her for that. As the member for Swan indicated, the story of Shayli, her daughter, is a tragic one. Shayli was born in Adelaide in 1971 after a dream pregnancy. She was a month overdue but no-one seemed concerned, but after she was born by emergency caesarean alarm bells did start to ring for Pam. Pam describes, as the member for Swan has outlined, how Shayli did not feed very well; she got tired and fell asleep after eating very small amounts. She was slow to grow and could not control her sitting. Again, when you are a first-time mum you do not really know whether these things are normal or not, or whether there is an underlying reason for these traits. Eventually in June 1990 she was in a coma from which he never recovered, and she died in August aged only 19. At the time of her death the condition of mitochondrial disease had only just been recognised, so they had a diagnosis just before Shayli's death.

Interestingly, and this goes to the issue of awareness and research, in those days Pam was told that her daughter was one of only three in the world who suffered from mitochondrial disease, but recent research has shown the condition is indeed at the root of many illnesses and is as common as maybe one in 200 people. Pam works as a volunteer in the office of the AMDF in Sydney, and she does what she can to raise the general public's awareness of mitochondrial disease so that eventually the funds raised will allow research to find a cure and her beautiful daughter Shayli will not have died in vain. Pam says:

Mitochondrial Disease can happen to any person at any age and affect any organ. We now know that many women with mito have Cesarean sections as their bodies are too tired to labour, and we know it's at the basis of Chronic Fatigue Syndrome, Parkinson's Disease, Huntington's, Cardio Myopathy, some cancerous tumors, some diabetes and some hearing loss. In fact it can affect any organ that uses a lot of energy as the mitochondria are the cells in your body that break food down into energy. Everybody needs mitochondria in order to function.

Pam has also written to me in the following terms, and this strikes a chord with me:

We all work so hard when our children are small to give them everything they need; we have sleep deprivation, anxiety, stress and more. During my first few years with Shayli I was often suffering fatigue, muscle soreness and migraine headaches, hardly surprising when my child slept 2 hours in 24 (every night for 2 years), and in the mornings I was taking her for physio at the Children's Hospital, all of which I put down to being a single mother with a disabled child. Now I know we both had mito disease. What I am finding now is that as I age, my previous symptoms worsen and a few new ones have appeared.

Finding a cure is vital, but that can only happen through research which also requires awareness of this devastating disease.

Pam says to me:

Still in 2012 there is no cure or even satisfactory treatment due to minimal funding. In the last 2 years, with the aid of research—mostly funded by public donations—a study has been done showing several conditions are Mitochondrial based …

So research remains the key to the cure of many diseases and is as essential today as it was in years past …

I strongly agree with her sentiments. The other important thing to take from the story that Pam tells is the incidence of mitochondrial disease. The research that Pam has provided to me courtesy of the AMDF states:

Until the 1990s, mitochondrial disease was thought to be rare (1 in 20,000 people), but it is now recognised as the most common subgroup of inherited metabolic disorders. Recent research shows one in 200 people, or more than 100,000 Australians, may carry genetic mutations that put them at risk for developing mitochondrial disease or other related symptoms such as diabetes, deafness or seizures during their lifetimes.

I also highlight some other research findings that Pam Hausler has provided to me showing the comparative incidence of mitochondrial disease compared to other diseases such as MS, cerebral palsy and SIDS. Based on population, mitochondrial disease has a very high incidence rate at least in Australia. I encourage anyone who is listening to this debate to look at the AMDF website. It gives some quite instructive information on the symptoms and some of the possible preventive mechanisms. The website is amdf.org.au. I would also like to highlight some of the research attributed to that author—who I believe is Banzai—who gives a very good summary of mitochondria and some of its symptoms:

Have you ever wondered where your 'get up and go' comes from? The answer lies inside your cells were a multitude of microscopic structures called mitochondria are working industriously to maintain your health and physical well-being.

  …   …   …

Unfortunately, there are many reasons for mitochondrial inefficiency, including lack of exercise, poor diet, toxins and a range of environmental stressors.

There is a very interesting piece here about the importance of exercise. As we know from a number of other studies, exercise is said to be the fountain of youth and energy. Another cause of mitochondrial problems is an inherent genetic mistake or mutation in DNA and that failure to produce enough energy is called mitochondrial disease or mito. I encourage everyone to increase their awareness of this terrible disease. Also I believe it is important to point out, as other speakers have done in this debate, the importance of understanding that research will put together the symptoms and lead us not only to diagnose with more efficiency but also to treat this disease in future. As the member for Shortland stated, mitochondrial disease symptoms and proving its existence is like a jigsaw puzzle. That is one the key factors that comes from the AMDF's findings. The AMDF highlights three points for suspecting mitochondrial disease: where there is a common disease which has atypical features and/or three or more organ systems are involved and/or recurrent setbacks or flare-ups when there are infections in a normal chronic illness.

In conclusion, I believe Shayli's story needed to be told. We need to emphasise the importance of research and support. I wish I could spend a day in bed for this cause, but maybe I will just end up sponsoring the member for Cook. (Time expired)

Andrew Laming (Bowman, Liberal Party, Shadow Parliamentary Secretary for Regional Health Services and Indigenous Health) Share this | Link to this | Hansard source

I also support the member for Cook's motion on mitochondrial disease. It is appropriate to reinforce the strong feelings which those on both sides of this chamber have to finding the scientific breakthroughs that can lead to a better life people born with mitochondrial conditions. The best example of science at its frontier are these mitochondrial diseases. We are only just beginning to understand the causation, the mechanisms of the disease and, ultimately, to search for a cure. I guess what holds back the awareness of mitochondrial disease is the very fact that it expresses itself in so many different ways that even primary care providers and GPs have very rarely had the experience of caring for a patient.

Most people who have specialised in neurology, ophthalmology and similar areas will have worked with people who have a family member affected by mitochondrial disease. My background with Lebers hereditary optic neuropathy is one example where we are just starting to understand that the origins of this disease lie in the tiny mitochondria of every cell in the body. We have the figures that around 4,000 Americans and around 200 Australians every year are being diagnosed with the condition. One in 4,000 Americans and Australians by the age of 10 will have been diagnosed with the disease. The Australian Mitochondrial Disease Foundation is making a simple request of this place that everyone be more aware through an awareness week—16 to 22 September—of this disease and of the needs of the people who live with it, and is pushing very hard for a cure.

There really is no greater test of a health system than how we look after those who, through no fault of their own, are born with a condition like mitochondrial disease. It is so heterogeneous and so varied in its expression that it very rarely impacts an individual Australians with a picture of exactly what this condition looks like. Those living with this disease do not have the benefits of, say, some of the larger pathology groups like cancer and heart disease, the benefits of a really clear picture of what this condition entails. We are only now learning about the importance of mitochondria in disease functionality, the role of mtDNA, that small amount of DNA which, unlike the rest of nuclear material, has only a single maternal copy. That leads to a far more varied expression of disease than one would find in a traditionally genetic disease. Whether it is acquired or inherited, the basic situation with the 15 respiratory proteins that are coded by mitochondrial DNA is that firstly they are directly from the mother and, secondly, from that point as mitochondria replicate they are randomly assigned to these organelles. That means that any possible clinical phenotype can be witnessed by clinicians, and that is simply because it depends on which organ body these mitochondrial variations turn up in. This is called 'threshold expressivity'—the heteroplasmy that leads to mitochondria affecting one part of the body and not another. We know if it ends up in the cerebrum, or in the peripheral nerves in particular, that it can have the strongest of outcomes and the most limiting for life and for quality of life.

Research started a decade ago. There are connections between mitochondrial disease and diabetes, the diabetes and deafness syndrome being one example. Optic neuropathy, the loss of central vision, is another. It is experienced at an early age and in far more severe forms that we would commonly know. These are typically older forms of retinopathy experienced by large numbers of Australians.

As I said, this is a disease category that deserves recognition. We need to raise awareness among GPs and primary care providers. We need to make sure every Australian knows what people living with mitochondrial diseases go through and give all the support we can, not just for more scientific research but for the inevitable ethical debate that will follow. Already we see in the University of Newcastle research allowing infertile mums with mitochondrial diseases to have children through pronuclear transfer. So what level of genetic engineering is society prepared to brook in order for infertile people to have children for the first time? These are just examples of where healthy DNA is being taken out of the eggs of a woman and placed into a healthy egg to allow that process to occur.

Right now the UK is leading the way on this moral debate, whether we are talking about vitamin supplementation, pyruvate or antioxidants that are able to penetrate the cell wall, which are the three most common forms of treatment. But more importantly, as this society, this fellowship, would be arguing, we must create awareness among Australians and care providers and push hard through medical research for a cure.

Laura Smyth (La Trobe, Australian Labor Party) Share this | Link to this | Hansard source

I am pleased to be able to speak in this debate today and I commend the member for Cook for bringing the matter before the House. It is a matter that has certainly been raised with me by members of my own electorate who are concerned about the debilitating effects of mitochondrial disease. I must say I had not anticipated reverting back to the dark recesses of my mind for the components of cells to participate in a debate on mitochondrial disease today, but I have had the opportunity to think about the role of mitochondria in cells. When you think about that and about the impacts of dysfunction in mitochondria on the ability to produce energy for the sustenance of all systems in the human body, it really does not take much to realise that the range of diseases that fall within heading of mitochondrial disease are very significant and have very deleterious effects on the health of those who suffer from them.

Mitochondria are the point in the human cell where around 95 per cent of energy is produced. In order for all other bodily systems to continue functioning these are obviously fairly significant cellular components. So it is important that further research be encouraged into mitochondrial disease and the causes of mutations in mitochondria to ensure that people who are facing the wide range of health impacts that arise from mitochondrial diseases might be better assisted.

I mentioned at the outset that I had heard from constituents of my electorate about the issue of mitochondrial disease. I would like to quote from some correspondence I have received from one constituent, a young woman called Amanda Filleul, who said:

'I speak now for those of all ages, the young, teenagers and adults of varying ages who suffer from this debilitating and misunderstood mitochondrial disease. Many will not get to enjoy the milestones of their lives and live to their fullest potential. We need a proactive approach. We need people to listen to our stories, to gather information and at least find, firstly, a successful treatment, if not a successful cure.' In concluding my remarks, I would say that that really does sum up the tenor of this motion, which is aimed at promoting further research and investigation into this debilitating disease and encouraging greater awareness of it in our society. I commend the motion to the House.

Mike Symon (Deakin, 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.