MJD Foundation

Senator Trish Crossin addresses parliament

Senator Trish Crossin addressed the Senate on Wednesday 11th Feb, and below is her speech (extracted from Hansard).

Senate

Senator Trish CrossinI want to use my opportunity this afternoon to put on record some information about a disease that had its foundations in Groote Eylandt and is becoming more prevalent and gaining national attention. That is Machado Joseph Disease, or MJD, as it is commonly known. I want to highlight to the nation what this disease is and what is being done to find a cure. There is no doubt that it is a disease that is rarely heard of. It needs to be brought to national attention and given some national significance.

Machado Joseph Disease is a rare hereditary condition that causes the nerve cells to die prematurely. It is caused by a defect in a chromosome that results in the abnormal production of protein. It has been described to me by researchers and professors as like having a drain in a kitchen sink gradually being blocked, changed and disfigured so that the content of that sink-that is, the protein-just builds up and up. The result is that the nerve cells die prematurely in the part of the brain that we know as the cerebellum.

The symptoms of MJD are clumsiness and weakness in the arms and legs; spasticity; a staggering, lurching walk that is easily mistaken for drunkenness; difficulty with speech and swallowing; involuntary eye movements; and double vision. When you get such major damage to the cerebellum you eventually end up with a total lack of voluntary control and very significant permanent physical disability. MJD is inherited. It is an autosomal dominant disorder, which means that each child of a person who carries the defective gene has a 50 per cent chance of developing the disease. In addition to the defective disease being passed on to the next generation, the symptoms of the disease appear eight to 10 years earlier and with more severity in that generation.

The disease is prevalent on Groote Eylandt. Fifty per cent of that small community has a chance of the disease kicking in and becoming abnormal at some time. It can occur at any time in your life. I have seen it just starting to appear in four-year-olds and in 60-year olds. If you start to develop it, you can guarantee that at least 50 per cent of your children will get it, and they will get it 10 years earlier than you did. There is currently no cure for MJD.

For many years people on Groote Eylandt thought that they were the only people that suffered with MJD. In fact, 20 or more years ago it was thought that MJD was a result of the manganese in the atmosphere from the Groote Eylandt mining operations. People up there were somehow led to believe or thought for whatever reason that the mining operations related to this disease. But we now know, thanks to an amazing breakthrough in 1994 by some Japanese researchers, that people all over the world are going through similar pain and suffering due to MJD. There are people in Portugal, Brazil, England, the USA and China suffering from this disease. We suspect, through research, that trading relationships between the Portuguese and the Macassans of Indonesia, who also traded with people in north-east Arnhem Land, caused this disease to be inherited over many, many generations.

Investigation into the Machado Joseph disease, which was previously known as the Groote Eylandt syndrome, has been sporadic since the early 1980s. Aboriginal people within the North-East Arnhem Land area have known about the effects of this disease for at least four generations-so going back many tens of years. And as I said, in 1994 there was a major breakthrough in the discovery of the gene, its effects, and the impact it has on people, by researchers in Japan.

In 1995 the Northern Territory Department of Health undertook a study by Dr Tim Burt who confirmed that what was known as the Groote Eylandt syndrome is in fact MJD. Since then we have seen action plans developed, guidelines established, care plans established and disability reports printed into coming to terms with how to manage its debilitating effect. In 2005 there was an MJD coordinator position established by the Northern Territory Department of Health.

Last year we had a significant breakthrough. In 2008 the Rudd Labor government committed $100,000 to address MJD in the Groote Eylandt region through the Anindilyakwa Land Council. It was the first time a national government had recognised that the disease needed supporting and needed financial assistance. The funding was used to employ a health professional that would assist in the provision and delivery of genetic counselling, education and testing services and also the development of an education campaign for the general community and service providers.

The severity of this disease is now recognised of course and its impact on the Groote Eylandt region. It impacts not only on individual sufferers and their families but also on the whole community. So we are talking about the need for major respite centres. We are talking about the need for wheelchair access and the need now for 24-hour full-time care for not a few people but 50 per cent of the community. This is half the community, hundreds of people. It is impossible to predict the number of people who will develop MJD.
Currently there are 277 people thought to be at risk of developing the disease in East Arnhem Land. There are currently 128 on Groote, 97 at Yirrkala and 52 at Galiwinku. And at risk of course are individuals that have a direct descendant of those with the disease. So in years to come we may well in fact see those numbers blow out to more than 300 or 400.

On 30 August last year I had the absolute pleasure to be on Groote Eylandt and to witness and be part of the launch of a new foundation that will be established to look at gathering funds for further research into this disease. The MJD Foundation was launched in August last year. It has been set up under the auspice of a national committee. It has since had its launch in Sydney on 30 October. It is a national foundation with the aim of providing a better quality of life for sufferers of MJD in North-East Arnhem Land by providing improved services, accessing local and international research, implementing practical solutions, getting greater levels of community infrastructure and transportation options to sufferers and by facilitating comprehensive genetic education programs.

The MJD board has Libby Massey (Morgan) as its chairperson and Gayangwa Lalara as the vice-chairperson, and of course the Lalara family in the Groote Eylandt community is severely impacted by this disease. There are also Nadia Lindop, and Kathy and Bryan Massey. Kathy and Bryan are two wonderful people who have spent the best part of 30 years of their lives on Groote Eylandt and have just recently left the island for retirement and, I might add, have just recently been acknowledged in the Australia Day honours. Kathy and Bryan are significant supporters of the foundation and a significant couple who have worked for years to try to get this disease recognised. And of course there is the Anindilyakwa Land Council representative, Tony Wurramarrba.

So this disease has now been recognised through a national foundation. It was terrific in August to be on Groote Eylandt to meet such wonderful people and researchers from right around this country and from overseas as well, particularly Professor Jorge Sequeiros from Portugal who has been working and researching this disease. It was just amazing to see the people on Groote Eylandt looking at photos of people from China, Portugal and from all around the world that had a similar disease. The fact that it was no longer the
Groote Eylandt syndrome but an international disease provided in some way some comfort to people on Groote Eylandt and North-East Arnhem Land, providing them perhaps with hope in finding a cure.

In fact Professor Sequeiros said to me that there is a cure. It is like a mathematical combination: we know that there are possibly five million answers out there; we have just got to go through them one by one and it is going to take us more than 10 years to do it and a lot of money. In his speech to the community on that day he had this to say:

"Much research is being done here in Australia but also in
many other countries. This is because MJD is all over the
world not just here in Groote. You are not alone in this affliction.
Many other persons, many other families, are going
through similar pain and suffering and similar struggle to
find associations like this in many places"

He is referring of course to the MJD Foundation. He went on:

"and there are foundations such as this in Portugal, England,
Brazil and the US. They have given me photos of many of
their local patient families for me to bring and to show you
that MJD is in fact all over the world."

What I want to do today in this contribution in this place is to encourage people to have a look at the MJD Foundation website, to become an associate member and support the work of this association. It does not have the national profile that a lot of other diseases have, because at this stage it is only in three communities in this country, but it does deserve the recognition from this nation and it does deserve our energies and efforts in supporting this foundation to find the funds for research and sifting through those five million answers until we finally hit the jackpot so that we can open up that blocked sink for people and let that accumulated protein develop and be removed from their bodies, giving them a normal life.

This foundation has been sponsored by Vincent Aviation, GEMCO, the Dugong Beach Resort, Gilbert+Tobin, Perkins Shipping, Browndog Productions, Kate Freestone Photography, Driver Web Design, the Groote Eylandt Car Co., the Darwin Airport Resort and a whole heap of other businesses. In the first couple of months it has launched a newsletter and has developed its constitution and its board. It has attracted many great sponsors, who have helped it. The MJD Foundation is new-it is less than 12 months old. It provides a valuable service to the sufferers of this disease in the north-east Arnhem region. I strongly encourage people to get on board and become associate members.