Paralysis island: 'slowly the disease kills them'

Groote Eylandt, in the Northern Territory is home to stunning beaches and the highest prevalence of MJD in the world. Photo / Supplied

It's a large island in the tropical north of Australia fringed with palm trees and surrounded by sparkling azure waters.

But the Northern Territory's Groote Eylandt is anything but paradise for a whopping five per cent of its residents who are at risk of or suffer from Machado-Joseph Disease.

More people on the island than ever before are "symptomatic" of the deadly rare genetic disorder with sufferers getting younger and the gene getting stronger, according to MJD Foundation chief executive Nadia Lindop.

The NT has the highest concentration and "most severe" strain of MJD in the world with an estimated 654 residents - mostly on Groote Eylandt - officially "at risk" and more than 100 currently "symptomatic". There is no known cure.

MJD is a debilitating and deadly hereditary neurodegenerative condition that starts with muscle weakness then progresses to a total lack of voluntary control and significant permanent physical disability.

In the late stages of MJD, the sufferer cannot move or talk but remains fully alert - a state often referred to as 'locked in syndrome'.

Ms Lindop told news.com.au it was a "cruel disease" that "doesn't affect cognitive function so the person suffering from it is completely aware of everything that is happening to them ... even when they can no longer move or speak".

"Their brains are fine ... that's the very cruel part of the disease," she said.

"The disease gives the person urinary incontinence, slurred speech, affects swallowing, mobility and anything you need muscles for.

"In the end people are locked into their bodies."

Slowly, the disease kills them.

The lifespan of an MJD sufferer is roughly 20 years from the onset of symptoms.

But carriers of the disease in Arnhem Land die much sooner, according to Ms Lindop. No one knows why.

"We call it 'anticipation onset'," she told news.com.au.

"It used to be people in their 30s or 40s first getting symptoms.

"Now we're seeing teenagers in wheelchairs.

"At the moment we have an 18-year-old with MJD in a wheelchair. She probably won't live much past 21 or 22.

"When the younger ones get it in their teens or 20s, the progression of the disease is more accelerated.

"We've had two 21 year olds die - one last year and one three years before that."

Daniel Lalara, 31, was diagnosed with MJD in 2008. Photo / Supplied

Any child of a person carrying the defective gene has a 50 per cent chance of developing MJD, and is classified as "at risk". Anyone with a grandparent carrying the gene has a 25 per cent chance of inheriting it.

"In some families you have parents with MJD caring for their children with MJD," Ms Lindop said.

The disease was brought to the region by the Chinese, who traded in the Blue Mud Bay area on the eastern coast of Arnhem Land more than 100 years ago, according to the American Medical Association.

Ms Lindop said the "gene can get worse as its passed on from one generation to the next".

"The Chinese strain is more aggressive strain and seems to pass on at a higher rate than less aggressive strains in other parts of world," she said.

"We're still investigating. We don't know why it's so prevalent."

There are also cases of MJD in far north QLD and other pockets of the world, including China and the Azores islands off the coast of Portugal.

MJD occurs when a fault in a chromosome causes nerve cells in the brain to die prematurely. It is similar to Huntington's and Motor Neuron diseases. Close to 70 per cent of people with MJD have clinical depression, according to the MJD Foundation.

'I NEVER THOUGHT THIS WOULD HAPPEN TO ME'

Father of two young children, Daniel Lalara, 31, was diagnosed with MJD in 2008.

He first noticed his symptoms when he became "wobbly on (his) feet" and his co-ordination became increasingly impaired.

In 2012, Mr Lalara told news.com.au he was "finding it hard to walk around at night, had blurred vision, was unsteady on (his) feet during the day and feeling tired and (his) confidence went". He was forced to give up his job as an NT Parks ranger when, at just 27-years-old, he became confined to a wheelchair and required full time care "for everything".

"I loved working in the bush," he told news.com.au in 2012.

"I had a great life with a lot of friends, now that I have the disease I think people are sad for me and don't want to visit as it upsets them.

"MJD affects everything I do on a daily basis.

"I see people that bludge the system and who don't want to work for a living, if I had the chance I would work for my family.

"I never thought this would happen to me ... I didn't want this to happen to me.

"I wanted to be a good hard working honest man that looked after my family.

"This was my main goal and my life before I got sick."

Since his 2012 interview with news.com.au, Mr Lalara's condition has rapidly deteriorated.

He now lives in assisted housing. His speech has become difficult to understand. He relies on carers for activities and to feed and shower him.

Mr Lalara loves spending time with his two young children who visit him every afternoon. But he is no longer physically able to play with them.

"I never thought this would happen to me." Lalara says. Photo / Supplied

GROOTE EYLANDT IS NOT EQUIPPED FOR MJD SUFFERERS

Groote Eylandt is the homeland of, and owned by, the Anindilyakwa people who speak their own language. It boasts a thriving manganese mine that attracts contractors and workers from all over the country. The metal is a critical alloying agent in the production of aluminium, copper and steel, with the island contributing more than 15 per cent of the world's total manganese production. While significant infrastructure is in place to cater to the island's approximate 1600 residents, it's services are not sufficient to support most sufferers in the end stages of MJD.

"Once locked in (to their bodies) many of our clients go to Darwin for supported accommodation," Ms Lindop said.

"There's no overnight support in remote communities. Some of our clients have been cared for families in their home until they died where we've been able to provide electric beds and other equipment. It's a terrible situation because no one wants to go away."

Ms Lindop said sufferers were often afraid to seek medical help because of the stigma attached to the disease.

"They get wobbly on their feet and can appear people drunk when they're not," she said.

"That causes a lot of problems for them when doing the groceries. We've had people kicked out of Coles by security who think they're drunk.

"There's an inability to access medical services, cultural barriers and a lot of shame in the past around the disease.

"Lots of people have died of bowel obstructions on their veranda without seeking medical attention."

THE SEARCH FOR A CURE

Earlier this year, Australian neuroscientists at Macquarie University's faculty of Medicine and Health Sciences in Sydney, started a research program involving zebrafish in a bid to slow the progression of MJD.

The tropical freshwater fish shares 70 per cent of the same genes as humans.

Zebrafish embryos were injected with the mutant human gene that causes MJD before different drugs were tested on them to see if they would cause them to "move and swim better".

"Zebrafish are transparent during development and they can absorb drugs that we add to their water, allowing us to treat large numbers of zebrafish to explore the effects of drugs," lead researcher Dr Angela Laird said.

Traditional owners on Groote Eylandt got the zebrafish project off the ground, with the Anindilyakwa Land Council donating $1 million for medical research to the MJD Foundation.

Ms Lindop said researchers found positive results they are "close to publishing".

"If that drugs works it won't cure the disease," she said.

"Sufferers will still have the genetic fault to pass on but it will slow down the progression of MJD".

But if there's a cure it's most likely to be found in the USA, according to Ms Lindop.

"In Boston, scientists are looking at research around switching off the gene," Ms Lindop said.

"If they find a cure it will cure a lot of things - Huntington's, motor neurone disease, so many ataxias.

"But can it be done? That's the 300 billion dollar question."