Giving hope to those with CMT

15 October 2013

CMTAA's President Darryl Beitsch presents the $75,000 gift to Associate Professor Joshua Burns.
CMTAA's President Darryl Beitsch presents the $75,000 gift to Associate Professor Joshua Burns.

The Charcot-Marie-Tooth Association of Australia (CMTAA) has donated $75,000 to the University of Sydney's Faculty of Health Sciences to fund research on Charcot-Marie-Tooth disease (CMT). The research will establish the cost of CMT to the community and recommend strategies to reduce the health burden of this little known genetic disorder.

Opening and closing lids on bottles, hand writing, walking and hair brushing are tasks most people take for granted. However, even the simplest tasks require a great deal of concentration for those with CMT, according to Postdoctoral Research Associate Dr Scott Denton, who has CMT.

Dr Denton will work on the research under the supervision of Associate Professor Joshua Burns.

"My sense of touch is greatly reduced and my balance is dependent almost wholly on eyesight," Dr Denton says. "If the lights go out, I will immediately fall down. Physical challenges aside, the biggest challenge I have is how it affects those around me. Living with CMT is always frustrating, at times humiliating, but it won't kill me."

He's not alone. CMT affects one in every 2500 Australians, although recent international studies suggest closer to one in every 1500 people have the incurable disease. Named after the three neurologists who classically described it - Jean-Martin Charcot, his pupil Pierre Marie and Howard Henry Tooth - the group of genetic disorders causes progressive loss of muscle tissue and touch sensation across various parts of the body.

CMT is usually hereditary, though Dr Denton's family has no history of it. DNA testing has cleared his three sisters.

"As I have no children, the disease in my family started with and will end with me," he says. "In medical terms I am a 'new mutation'."

While there is data on the cost of neurological disorders such as Muscular Dystrophy and Parkinson disease, there is none for CMT at present. Now, thanks to the generous gift from CMTAA, the Faculty of Health Sciences is able to begin research towards a report on 'Reducing the health burden of Charcot-Marie-Tooth disease in Australia'.

Associate Professor Burns, who in addition to his role as Co-director of the Arthritis and Musculoskeletal Research Group at the University of Sydney, is also a NHMRC Career Development Fellow at the Children's Hospital at Westmead, says the report will establish the cost of CMT and recommend strategies to reduce the burden.

"Some of the possibilities we are looking at to reduce the financial burden include the establishment of a 'CMT Specialty Centre', improvements in the way the education sector accommodates those with CMT, and Pre-implantation Genetic Diagnosis (PGD) supported by Genetic Counselling," says Dr Burns.

The latter allows for those carrying the CMT gene to conceive without the 50% risk of passing CMT on to their offspring. In 2011, only 11 Australian couples carrying CMT utilised PGD treatment, largely due to a lack of awareness.

Throughout the years, Dr Burns and the Faculty of Health Sciences have developed a strong association with CMTAA's President Darryl Beitsch.

Mr Beitsch, who also has CMT, has spoken to students at the faculty about the disease, participated as a 'patient' so the students can see the impact of CMT, and is currently involved in a clinical trial.

"I have been most encouraged by the professionalism of the faculty and their willingness to think outside the square," says Mr Beitsch. "I believe people with the disease will draw significant encouragement from the fact that there will be credible and up-to-date information regarding its actual financial and physical cost. Additionally, this could result in more targeted research, which will both directly and indirectly benefit those with this disease."

Providing this hope and relief for fellow-CMT carriers was a big part of Dr Denton's decision to switch the focus of his academic career to the social societal aspects of CMT after completing his PhD in political science.

"Medical science in the last decade has made significant advances and we are on the cusp of some major breakthroughs, so it is important that CMT research be funded at the levels it deserves."

This gift is also helping us to reach our fundraising goals by supporting INSPIRED - the Campaign to support the University of Sydney.