Steve Irons (Swan, Liberal Party) Share 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)

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