Matt Thistlethwaite (NSW, Australian Labor Party) Share this | Link to this | Hansard source

I wish to address the Senate about Charcot-Marie-Tooth disease. One may be forgiven for thinking that this was an ailment that, if contracted, would put one in the dentist's chair, but in fact Charcot-Marie-Tooth disease, or CMT, is one of the most commonly inherited neurological disorders. Conservative figures have CMT affecting one in every 2,500 people, and it is generally understood to be much more widespread than the figures would suggest. Australia's Aboriginal and Torres Strait Islander population, in particular, are among those believed to be largely unaware of CMT, with only one Aboriginal family ever having been diagnosed to date.

CMT is a hereditary motor and sensory neuropathy with no cure, which comprises a group of disorders that affect peripheral nerves that, in turn, supply the muscles and sensory organs in the limbs. CMT affects a person's ability to voluntarily contract and control muscles, which can make simple functions such as breathing, swallowing, walking and speaking very difficult. Other typical features of CMT include weakness of the feet and lower muscles, which can result in regular tripping, and foot and lower leg deformities from loss of muscle mass.

The onset of symptoms most commonly occurs during adolescence or early adulthood but can also be in mid-adulthood. The severity of the symptoms varies greatly amongst individuals and even amongst family members with the disease. Progression of symptoms is gradual. Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopaedic devices to maintain mobility.

CMT is debilitating, it is prevalent and, according to a report from the University of New South Wales into the cost of CMT, it is also a significant financial burden on the Australian economy. The report stated that neurological disorders like CMT accounted for 12 per cent of Australia's disease burden and injury in 2003. While there are scant figures relating directly to CMT, to offer a useful comparison, in 2005 almost 3,500 Australians had muscular dystrophy, with an associated financial impact of $435 million. That is $435 million from a disease that is far less prevalent than CMT.

CMT is a disease that deserves greater awareness, just as those suffering from it deserve greater support, and I want to mention and pay tribute to a good mate of mine, Dr Scott Denton. Scott is a sufferer of CMT himself, but he has been a diehard advocate for research. He has worked most of his adult life to raise awareness and funds for research into a cure. He has been fighting for recognition for sufferers of CMT for many years and supporting work towards a cure. I have seen Scott cope with the disease but gradually be increasingly debilitated by it, and he is beginning to experience difficulties associated with CMT on a daily basis. I would like to take the opportunity to commend Scott and pay tribute to the work that he has done in promoting awareness of this disease and raising funds and support for finding a cure.

Stories of those affected by CMT reveal the difficulties they face completing the most simple of day-to-day tasks but also dealing with a general lack of awareness within the community. I want to refer to the plight of one such Australian family, the Critchleys. In my research into this disease I came across their story, which is both heart-warming and heartbreaking. It was on their first date that Peter told Jillian about his disability. He explained that, although he looked like a regular bloke, his disability that he had inherited from his mother had severely affected his life. Growing up, Peter had trouble walking and running, he could not swim confidently and, because of his disability, he was unable to play sport with his friends. Peter told Jillian that he had been forced to rely on others for assistance since a very young age.

That first date must have gone quite well, because Peter and Jillian eventually married and went on, of course, to consider having children. But this was a fairly worrisome prospect given the one-in-two chance of passing on the CMT gene to their child. The couple investigated genetic counselling and, whilst encouraged by health professionals, they experienced negativity from others who questioned their decision to risk having a child with the disease, which they said would subject their children to a life of unhappiness. But Peter and Jillian shrugged off the naysayers, due in large part to Peter's awareness of his condition and the fact that others in his family, who also had CMT, had learnt to manage the disease and live happy lives.

Peter and Jillian went on to have two lovely children, both of whom, unfortunately, would eventually test positive for the most common form of CMT, type 1A. The Critchleys did all they could to manage CMT in their family. They acquired a whole range of new friends, including neurologists, podiatrists, physiotherapists, occupational therapists and orthopaedic surgeons. They became experts at stretching exercises, procured inserts for shoes meant to hold very small feet and discovered new ways of doing up buttons and opening jars.

But it was not just inside their home that the girls would experience significant challenges. Peter and Jillian knew that, as the symptoms became more and more noticeable, their girls would need to know how to respond to comments about their disability. One day at school Eleanor, Peter and Jillian's youngest daughter, was told by a classmate that she did not want to play with her anymore because she walked funny. But, as recounted by Jillian, her daughter did not cry, flinch, recoil in horror or stammer. She simply turned to her friend and said: 'I walk funny because I have CMT. Nobody's perfect. What's wrong with you?' She meant no harm or malice by that; she was simply stating the facts. She clearly had learnt quite well to cope and live with her disability.

The Critchleys are a remarkable Australian family, a family that has learnt to live with CMT and lead happy and healthy lives. But their story highlights just how debilitating CMT can be, particularly when there are multiple sufferers within the one family.

Thankfully, genetic counselling and pre-implantation genetic diagnosis now means that those carrying the CMT gene can conceive without the 50 per cent risk of passing CMT to their offspring. But there remains a disturbing lack of awareness of CMT and, despite the advances, detection and genetic counselling, low awareness and detection means that this disease is still spreading to future generations, when it really could be stopped.

There is a clear case for more investment into the cause, the care and the cure of CMT. This needs to be brought into the public awareness arena.

Senate adjourned at 19:39