Melissa Parke (Fremantle, Australian Labor Party) Share this | Link to this | Hansard source

Next week, American entertainer and comedian Jerry Lewis will be in the parliament in his capacity as international patron for the Muscular Dystrophy Foundation of Australia. I am very grateful for Mr Lewis’s visit and his efforts over many years to raise awareness about the difficulties for the children and families coping with muscular dystrophy. But I do think it is a sad reflection on our society that so often we need a celebrity endorsement of an issue or a cause that really should attract our interest on its own merits.

In this context I want to talk about an extraordinary young man, Conor Murphy, who suffers from Duchenne muscular dystrophy (DMD), a progressive degenerative muscle disease affecting boys. On average, affected boys lose the ability to walk and become wheelchair-bound before the age of 12 and they generally do not survive beyond their late teens or early 20s. Last Saturday, 12 June, I joined with Conor’s many family and friends at the Leeuwin Barracks in East Fremantle to celebrate his 21st birthday, regarded as something of a miracle milestone. Even though Conor’s condition has deteriorated to the point where he is on a ventilator 24 hours a day and he needs the assistance of a cough machine to cough, Conor’s huge smile showed that he was not going to let these minor inconveniences detract from his birthday celebration.

Conor lives over the road from my house in Beaconsfield in Fremantle, with his parents Maurice and Lesley Murphy. Lesley is the Community Support Director of the Muscular Dystrophy Association of WA and she also fundraises and does enormous amounts of volunteer work for the association, which receives very little government assistance. Last week, Lesley came to my office, together with John Gummer, the CEO of MDAWA, and Dr Hugh Dawkins from the Office of Population Health Genomics in the WA Department of Health. They explained to me that Australia does not have a national registry for muscular dystrophy or for any of the rare neuromuscular conditions such as spinal muscular atrophy. Not having such a registry is hampering the ability of our researchers to attract funds and patients to participate in trials for treatments, since there is no collated information about the number and location of sufferers in Australia or their clinical and genetic information. As Lesley said to me: ‘To be brutally frank, the fact that we are the only first world country without a rare disease registry makes us something of a laughing stock.’

Dr Hugh Dawkins has worked with a group of experts in the field from across Australia to produce a report for the Clinical, Technical, Ethical Principal Committee of the Australian Health Ministers Advisory Council on the need to establish a national Duchenne muscular dystrophy registry. The report notes that ‘although the disorder is comparatively uncommon affecting one in 3,300 live births, the impact is enormous with the burden of disease being grossly disproportionate to its frequency’. Access Economics has estimated this cost us $126,000 per affected person per year.

The report notes further that in Australia, even though there are several centres involved in the research and management of the disease, there is insufficient coordination on a national level to impart this research into improved patient outcomes. As noted by my colleague Senator Jan McLucas, the former Parliamentary Secretary for Health, in a comprehensive speech on this issue in February this year, the creation of a national registry for DMD is under consideration by the CTEPC. For the sake of patients like Conor, I hope the committee makes a decision soon so that he and others are able to obtain the best medical treatment that is currently available.

It was also noted by Senator McLucas that until recently there were no treatments available to halt the disease process or to restore muscle function. However, advances in gene technology have facilitated potential treatment options to improve muscle function. The ABC’s Catalyst program reported on 22 April this year that research being conducted by WA scientists Steve Wilton and Sue Fletcher has discovered a form of treatment for genetic diseases, in particular Duchenne muscular dystrophy, which involves engineering a genetic patch for the faulty gene. This has produced some promising results, with a trial in the UK showing that boys who had the patch were able to produce some of the important protein dystrophi. The patients have displayed movement abilities previously unseen in boys with Duchennes. Professor Wilton informs me that the treatment may also have application to other diseases such as cancer.

The researchers responsible for this world-first medical research breakthrough are based in Western Australia. It would be an enormous loss to the state and the country if they were forced to go overseas to continue this work. For a relatively small investment, full length DMD gene sequencing components could be created at a specialised laboratory in Perth that would meet the needs of DMD sufferers in Australia and potentially elsewhere. A national registry would allow these new opportunities for treatment to be implemented quickly and effectively, as information would be centralised and would provide an interface between patients, doctors and researchers. As Lesley Murphy said to me last week, as many people as possible should be able to access this amazing breakthrough. Boys like Conor deserve nothing less.