Machado Joseph Disease (MJD) is an incurable illness. Even though it's rare in Australia, it can be found in several remote Indigenous communities. In fact, remote communities in the Northern Territory now have the highest rates of MJD worldwide.
“It’s a cruel disease, it affects people’s muscles... it affects your speech, your mobility, swallowing, eyesight and continence,” health worker and MJD sufferer Julie Wunungmurra says.
The condition causes nerve cells to die prematurely. It leads to muscular weakness which eventually progresses to a total lack of voluntary control. Sufferers end up wheelchair-bound with significant permanent physical disabilities.
Because MJD is a condition mostly found in remote pockets of Northern Australia, many people, including health workers, don't know much about it.
“You go to doctors and you talk to them about MJD and they don't know about this disease, and then you go and see another doctor and no one knows about it,” Ms Wunungmurra says.
But now, a new online eLearning module has been developed to create awareness of the disease, so sufferers can enjoy a better service delivery.
“Because MJD is an extremely rare condition … and it's not seen particularly widely outside the Indigenous communities, most health professionals would not be familiar with it and they certainly wouldn't have had any coverage of this in their basic training,” Doctor Tony Austin from Remote Area Health Corps says.
“When we recruit health professionals to come and work in the Territory either as part of the permanent workforce, or part of the locum force, we will be directing them to this online module and saying, 'guys, if you're working in these areas where there is a prevalence of this disease, you need to be across this information'.”
The eLearning module, developed by Remote Area Health Corps (RAHC) and the MJD Foundation, is an interactive MJD explainer designed for doctors, nurses, and carers. It can be accessed by anyone anywhere, and remote health workers say it's desperately needed.
“Because often with rare conditions there is a delay in diagnosis, people think of everything else but, and so they go down the wrong paths, they make the wrong investigations, or they start inappropriate treatments and that delays the patient from getting the care that really will be useful to them,” Doctor Tony Austin says.
“And so that's why it's important for us to have the module and get people thinking about it and always have in the back of their mind when something isn't adding up that maybe this could be MJD.”
The MJD Foundation has praised the accessibility of the online tool.
“I think especially in remote communities there's so many barriers already to service provision that it's costly. There's a high turnover of staff, so anything that we can do to have a resource that's on tap, that's ready for those new people coming through, I think will benefit everyone,” The MJD Foundation’s Chief Executive, Nadia Lindop says.
“People can also go back to [the module] at any time that they need it, they might know they’re about to see a patient for the first time with MJD and so they can prepare for that."
Sufferers have also welcomed the tool. They hope it helps tackle the emotions that are triggered by the diagnosis.
“The diagnosis affects you a lot emotionally because you’re shamed, and you think, ‘why is it my family that has got this disease?’
“This tool is a good thing, it's an eye opener, it's opening the doors as well so my family and my people can get a lot of support and help,” Ms Wunungmurra says.
About the disease
MJD is an inherited, autosomal dominant disorder. This means MJD sufferers may pass the defective gene on to their children, who will then have a 50% chance of developing the disease.
The gene then mutates when it is passed to the next generation, making the disease harder to manage. Symptoms of the disease appear around 8-10 years earlier, and are more severe.
Ms Wunungmurra thinks more awareness will help sufferers realise they are not alone.
“I would like to send a message to the families that are suffering from this disease; you are not alone, we are here to help you and stay strong for longer.”
It is believed the disease entered Australia through trading relationships between the Aboriginal people of Arnhem Land and the Macassan people of Indonesia.
There is no known cure for the disease. Life expectancy ranges from the mid-thirties, for those with severe forms of MJD, to a normal life expectancy for those with mild forms. Most sufferers are wheelchair-bound and fully dependent on others within 10-15 years of the first symptoms emerging.
Although it is impossible to predict the number of people who will develop MJD, there are currently around 550 people alive today thought to be “at risk” of developing the disease across Northern Australia.
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