Stephen Jones (Throsby, Australian Labor Party) Share this | Link to 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.

Deborah O'Neill (Robertson, Australian Labor Party) Share this | Link to this | Hansard source

I take the opportunity to formally welcome Scott and Jo to the Federation Chamber. Thank you for your civic participation in helping broaden the understanding of this important disease.

Sharon Grierson (Newcastle, Australian Labor Party) Share this | Link to this | Hansard source

I rise to speak in support of the member for Throsby's private member's motion on Charcot-Marie-Tooth disease. I thank the member for Throsby for bringing this matter to the attention of the House. I also welcome his constituents and thank them for taking the time to come to the House tonight. I say to them: this disease is important and you are important, and you have done a very good thing to promote understanding of this illness.

If someone told you that you had this disease and you had never heard of it before, you might assume it had something to do with dental care or dental health, but this is nowhere near the truth. That, however, illustrates the lack of awareness about CMT disease. It is a rather common and yet little understood genetically inherited neurological disorder found around the globe. Its unusual name derives from the three neurologists who discovered the disease in 1886. As the motion states, there is a low level of community awareness about this disease, which is also known as inherited motor and sensory neuropathy, and yet it is in fact the most common form of genetic or inherited neuromuscular disease. Around one in every 2,500 Australians is affected by this disease. Recent international studies have indicated it may be far more common. As the member for Throsby pointed out, because of some of the difficulties in diagnosis, it may be closer to one in 1,000.

CMT is characterised by the progressive degeneration of foot muscles and muscles in the lower leg, hand and forearm, as well as a loss of sensation in limbs and digits. Ninety-five per cent of those with the disease experience weakness in the lower limbs. Whilst not fatal or impacting on life expectancy, it can certainly adversely impact on the quality of life of those with the disease. As life tends to tell us over and over again, we are never able to predict what fate life's deck of cards will deal us. Typically, the first sign is a high-arched foot and problems with walking. Other symptoms include bone abnormalities in the foot and hand grip. It becomes difficult to open bottles and jars and do the basic things like operate taps in the home. It can bring poor balance and tumbles and falls, cramping in the legs and forearms, reflex issues, sight and hearing loss, and, occasionally, scoliosis, or curvature of the spine. This all occurs at a slower rate as the nerves gradually degenerate, making muscles weaker because of a lack of nerve stimulation. Symptoms for this disease appear by the age of 30 in most cases and, of course, that is so young. CMT currently has no cure. This presses the issue and importance of this motion and its aim—to raise awareness of this disease and encourage investment into research into the causes, treatment and preferably a cure. Though it is more common than muscular dystrophy, CMT lacks the community awareness that is often required to bring such issues into the spotlight in order to bring about constructive change and results. Though presently incurable, there are treatment options that do alleviate symptoms, including leg and ankle braces, orthopaedic shoes, physical therapy, muscle training, stretching, low impact exercises and orthopaedic surgery.

But what a regime! Would it not be better, however, to have no symptoms to treat if we could find a cure. The University of New South Wales report, the Cost of Charcot-Marie-Tooth Disease on the Australian Economy, states that neurological disorders like CMT accounted for 12 per cent of Australia's disease burden and injury in 2003. There is limited data on the cost associated, however, to do a direct comparison with muscular dystrophy; in 2005 almost 3,500 Australians had MD with an associated financial impact of $435 million. Of this, $236.2 million was lost in productivity and $117.8 million in cost to carers, as well as many other additional financial burdens experienced by sufferers and their families. With the knowledge that CMT disease is far more prevalent than MD it is possible the costs are similar or more pronounced.

The member for Throsby informs me that my region, Newcastle, has an above average prevalence of this disease. I was not able to establish that but it is part of the problem—we just do not have the data. I would like to know. Research conducted at the University of Newcastle by Dr Fiona Hawke in 2011 has revealed a previously unrecognised link between calf cramps and hand tremors in children with CMT disease type 1, that worsen with age. Of course, we do require greater research into CMT and its causes and increased funding towards such endeavours is essential. I am very pleased to support this motion and thank the member for Throsby for bringing this to our attention.

Debate adjourned.