Stephen Jones (Throsby, Australian Labor Party) Share this | Hansard source

Sometimes when you read the motions on notice for private member's business it can read a little bit like a triage sheet at a major hospital in any capital city around the country. Against that background, it is a little bit surprising that the words Charcot-Marie-Tooth disease have never been mentioned in Hansard before—particularly given that it is the most common form of inherited neuromuscular disease. Despite this, awareness of the disease is extraordinarily low. That is why I am pleased to have brought this motion before the House and to make a few comments tonight about Charcot-Marie-Tooth disease.

I would first like to acknowledge the presence in the chamber tonight of my constituent, Dr Scott Denton, and his partner Dr Jo Coghlan. I would also like to acknowledge the presence in the chamber tonight of Darryl Beitsch, who is the national president of CMT Australia, and is joined by his wife, Robin. I welcome them to Parliament House and to this chamber tonight.

I take this opportunity to commend Scott for his work in raising awareness of CMT and for putting so much of his time and energy towards ensuring that the Australian and New South Wales governments take notice of CMT and the needs of those who suffer from this disease. Last week I had the pleasure of introducing Scott and Jo to the Minister for Health. Not surprisingly, Scott was the first patient with CMT that the minister had ever met.

Given the low awareness of CMT, many may ask: what exactly is this disease? Charcot-Marie-Tooth disease is the name given to a group of disorders that primarily affect the periphery nerves. The degeneration of motor nerves means a loss of ability for nerves to communicate with the body's extremities—the arms, the legs and the feet. That means that sufferers of CMT find it hard to stand for very long or to remain mobile. Trips and falls are an obvious risk.

Sometimes the disease gets confused for other disorders. Sometimes when in public people are confused for even being drunken and disorderly. Ignorance of CMT means that many of us mistake the symptom of physical unsteadiness for some broader disability of affliction. The consequences of the physical challenges of living with CMT are that those with CMT face many obstacles in trying to maintain social contact and to remain in the workforce—yet, unlike many other diseases and disorders, they live a normal lifespan.

It is of great concern that the low level of awareness of CMT means that it is frequently misdiagnosed in Australia and, once diagnosed, it is difficult for sufferers of this disease to then receive the treatment and support that they desperately need. Physiotherapy, rehabilitation and allied health care can all slow the progression of symptoms of CMT. Whilst there is a clinic at Westmead Hospital for children who suffer from CMT, there is no clinic in Australia for adult sufferers. Advances in DNA testing and better affordability mean that the estimated prevalence of CMT shows that it is far more common than previously thought. It is estimated that one in every 2,500 Australians is affected by CMT, but it could be much more prevalent than even that. In particular, it is statistically likely that the prevalence of CMT is enormously undiagnosed amongst Indigenous Australians because, to date, only one Aboriginal family has been diagnosed.

Naturally, with such a debilitating disease, the direct and indirect costs of CMT are significant to the sufferers and to the public purse at large. Unlike comparable diseases such as muscular dystrophy and Parkinson's disease, no data on the costs of CMT exists. For many reasons, including the human impact—not just the cost—it is important that the frequency of CMT is reduced. As a genetic disease, that means that gene discovery, preimplantation genetic diagnosis, or PGD, and genetic counselling are required. Scott and Associate Professor Joshua Burns, who is at the forefront of medical CMT research in Australia, have developed a three-step plan to reduce the financial burden of CMT. There is a clear case for more investment into the cause, the care and the cure of CMT. For that reason I have brought this motion before the House. I welcome Scott, Jo and the others to the House today to draw it to the attention of members, who are responsible for passing legislation on all manner of healthcare matters. This needs to be brought into public awareness. I commend the motion to the House.

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