Government withholds funding for Indigenous genetic disease foundation
Machado-Joseph is a dreadful disease, a rare genetic neurodegenerative condition that progressively robs sufferers of their muscle control, and usually takes about 20 years to kill.
In the remote Aboriginal communities of East Arnhem Land, where the prevalence of MJD is the highest of anywhere in the world, it used to be called “drunken walking sickness”, because one of the first signs of its onset is ataxia, a loss of muscle control in the legs resulting in a distinctive gait.
The progression of the disease is variable, but sufferers experience dizziness and are prone to falls, severe muscle cramps and sleep disturbance. Vision becomes blurred; speech becomes slurred and eventually impossible. Sufferers have trouble swallowing, lose bowel and bladder control, and ultimately respiratory function.
It runs in families. Where a parent has MJD, there is a one in two chance a child will have it as well. It is an adult-onset disease, so without genetic testing, there is no way of knowing whether an apparently normal child will become an afflicted adult.
Another characteristic of MJD is something called “anticipation” – the genetic defect tends to amplify, so successive generations get it earlier in life.
Perhaps most cruelly of all, people with MJD remain intellectually normal. Cognitive function is not affected, so sufferers are aware of what is happening to them, and aware of what is happening, or likely to happen, to their loved ones. Right to the inevitable end.
It’s hard to think of a circumstance that could be more corrosive of hope. Unless, of course, you factor in the actions of the federal minister for Indigenous affairs, Nigel Scullion.
Scullion has spent the past three years, and large but unquantified amounts of government money, trying to reclaim a $10 million grant made by the previous Labor government to the Machado-Joseph Disease Foundation, an organisation set up to help sufferers.
The good news for these people and for the foundation is that they have just won the latest round in the legal battle. On March 3, the full Federal Court dismissed an appeal by Scullion against an earlier decision that the money should be paid. It determined that he did not have the power to revoke the previous government’s publicly announced decision to grant the $10 million from the Aboriginals Benefit Account.
The less good news is that it is not yet clear that this will be the end of the matter. There could still be an appeal to the High Court, although the minister has indicated this is not his preference.
But the money, of course, has still not been paid, almost four years after Labor’s then minister for Indigenous affairs, Jenny Macklin, promised it.
First, though, a bit about the history of the disease and the remarkable people who try to ease its suffering.
Machado-Joseph Disease is exceedingly rare. Globally, it affects fewer than one person in 100,000. But there are some hotspots around the world where it is more common. One of them is the Azores Islands, a Portuguese territory in the Atlantic Ocean, where it is more than 40 times as prevalent.
There are other hotspots, too, among them the New England region of the United States, where there is a Portuguese/Azorean connection, dating back to the days of whaling, and where the disease was first described. And Brazil, which was also settled by the Portuguese.
Not until 1974 did it get its name, after two Azorean families in which it passed down the generations. It took another 20 years for medical science to establish the cause, when Japanese researchers discovered its genetic basis.
But the fact that it is a newly identified disease does not make it a new disease. Genetic science now identifies two strains: the older and more severe of which, the so-called “Joseph lineage”, traces back more than 6000 years to an Asian origin.
Still, Aboriginal settlement of Australia long predates that. So how did it come to Australia?
For a time, says Libby Massey, director of research and education for the MJD Foundation, the assumption was that there was a Portuguese connection. It was linked through the Macassans – Indonesian seafarers and traders in trepang, or sea cucumber, a marine invertebrate prized as food and medicine by the Chinese.
“The prevailing view is it was probably introduced to Australia about 600 years ago. We thought maybe it came from the Macassans who used to come to harvest trepang, who also had contact with the Portuguese.”
More recent research, however, published in 2012, ruled out a Portuguese connection, and instead points to “a direct Asian link based on an international DNA haplotyping study”.
That genetic evidence is interesting in that it suggests the Aboriginal communities of Arnhem Land were engaged in trade with Asia hundreds of years before any European contact. It is tragic, too, in that it exposed them to the more severe strain of MJD.
None of this was known, of course, back in the 1960s when the first medical practitioners to make regular visits to Groote Eylandt recorded “motor system disorders” in some Indigenous families.
Lacking any firm diagnosis, they called it Groote Eylandt syndrome. Some theorised that it was due to manganese toxicity from the big BHP mine on the island. That idea was debunked in the mid-1980s, but it took more than another decade to determine the true cause of the mysterious illness. In 1996, genetic testing finally proved it was MJD.
Then the challenge was to find out how widespread the genetic condition was and how many people either had the disease or were at risk of developing it. Massey was a main driver of that effort, and was uniquely qualified to do it. She was the daughter of two Anglican missionaries and had arrived on Groote in 1970, when she was a year old. She understood two cultures.
It involved a great deal of genealogy, tracing family histories to determine how far the gene mutation had spread.
“I began my investigation because Groote was my home and it was affecting people I loved,” Massey says. “We now have family histories that run for pages and pages – 200, 300, 400 people.”
To cut a long detective story short, the more she and others investigated, the more MJD they found. First at Yirrkala, on the mainland at the north-eastern tip of Arnhem Land. Then in 2002, on Elcho Island, a couple of hundred kilometres north-west of Groote, and Numbulwar, 80 kilometres to the west. Then in other places.
In 2004, Massey published the results of her work, “Investigative Report of MJD in the East Arnhem Region”.
“The report pointed to what was ahead and the likely prevalence of the disease in the future,” says Neil Westbury, chairman of the MJD Foundation.
“It was ignored by the Northern Territory health department. It was after that we started talking about setting up a foundation.”
It was not until 2008 that the foundation formally came into being, under a board that mixed white and Indigenous directors and relevant organisational, financial and clinical skills. The local Anindilyakwa Land Council provided financial support, says Westbury, “and cultural legitimacy”.
By 2010, the foundation had identified 41 sufferers of MJD, and another 410 people considered at risk, and applied for a $6 million grant, to be invested and the interest used to help fund research into the disease and to provide for the ill.
They got it, but their work kept expanding as the geographic range of MJD and the number of people with the disease grew.
It was identified at other remote communities across the Top End: Milyakburra on nearby Bickerton Island, Oenpelli, Warruwi on South Goulburn Island, and the Ngukurr and Urapunga communities on the Roper River. And in Darwin. It was also found further afield, at Papunya, Hermannsburg and Santa Teresa near Alice Springs. And in Far North Queensland, in Cairns, Kuranda and Malanda.
By 2012, the number of people identified as having the disease had grown to 71 and the number at risk to 557.
More concerning still, the genealogical and genetic evidence projected that within a generation MJD could affect up to 5 per cent of the Indigenous population of some Indigenous communities. A few hundred thousand dollars interest on their invested money was not enough.
They applied for another $10 million of federal money and on July 22, 2013, Macklin signed off on the grant.
Before the money was paid, though, the 2013 election happened. Tony Abbott’s Coalition won and Scullion became minister.
And on December 18, after stalling for three months, Scullion wrote to Westbury to say no money would be forthcoming. So the foundation took him to court.
The reason Scullion offered in his letter was “longstanding policy and practice not to provide recurrent funding from the Aboriginals Benefit Account”.
The account is a fund set up in 1974 through which the government returns to Indigenous people in the NT a share of the royalties from mining on their land. Yet the same letter acknowledged the grant did not amount to recurrent funding, but money “to be invested in perpetuity to enable interest earned to fund the work of the Foundation…”
Scullion subsequently offered other arguments, too. In December 2015 it was that the $10 million grant threatened “the integrity and sustainability” of the ABA that is meant to be used to support Aboriginal people in the Northern Territory for many years to come, including for the operation of land councils.
Yet the ABA continues to grow, and now contains some $580 million, as the former senior federal and NT bureaucrat, Michael Dillon, a visiting fellow at the Australian National University Centre for Aboriginal Economic Policy Research, noted in an analysis last week.
“Moreover…” he wrote, “the majority of current revenue can be traced back to the manganese mine on Groote Eylandt; it seems perverse to punish the very people whose lands have been affected by mining on Groote.”
These are the same people involved in setting up the MJD Foundation, the same people whose land council provided its own funds for research and care.
Perhaps most risibly, Scullion argued in a media release last December that “Aboriginal people with serious health issues should not have to fund their own support services…”
The problem there is that government was clearly not funding the necessary services, the specialist therapists, equipment and research, which is why the foundation was set up in the first place.
There is a powerful case to be made that the response to MJD should be funded by government, but not delivered by government, for, as Massey says, the disease raises complex and difficult issues that require very sensitive handling.
“Eugenicists would say if you carry this gene you shouldn’t have children. But a lot of people, not just Aboriginal people with conditions like this, like Huntington’s [a similar neurodegenerative genetic disorder], sometimes don’t want to know if they have it, because they don’t want to have to make the choices that entails.”
Those choices include things such as abortion.
“They can test for affected embryos, so selective termination of pregnancy is an option,” Massey says. “But typically Aboriginal women don’t report their pregnancies until quite late, after 12 weeks, which is when you would be doing a selective termination.”
There are other options, such as selective IVF. But even someone like Massey, with a lifetime of experience of the culture in remote Aboriginal communities, is wary of complications.
“There’s a lot of work to be done in that space. I’m planning a PhD next year on the acceptability of pre-implantation genetic testing in these families. Is this an option they would take? We don’t yet know the answer. It’s a very delicate area.”
Back to the conflict between the minister and the foundation, which would seem to have a personal as well as a legal dimension.
The fact is Scullion and Westbury have a long history of mutual antipathy, as Westbury readily admits.
“It goes back to when I was on the board of the Indigenous Land Corporation and the issues we raised about the purchase of the Ayers Rock Resort.”
The sorry saga of the resort purchase has been well documented, including in this paper. In a nutshell, the Indigenous Land Corporation paid way too much for the resort when it bought it for $317 million in October 2010. Five years later it was valued at almost $100 million less – $225 million.
Projected revenues proved to be wildly optimistic, and the land corporation was left with a huge debt, which will take years to clear.
In November 2013, after most of those responsible for the purchase had been purged from the board, the new Indigenous Land Corporation chairman, Dawn Casey, described the deal as “perhaps the largest single evaporation of public monies in the Indigenous policy domain, ever”.
An investigation by the new board suggested shabby and possibly improper practice. They called for an inquiry. The government refused to hold one.
The whole affair was very politicised and very bitter and Scullion, who had backed those who engineered the dud deal, was savage in his attacks on those who had opposed it, including Westbury.
Westbury believes that hostility lingers.
“Yeah, I think he would have taken some malicious pleasure in refusing us,” Westbury says. “But I also think he really didn’t understand the scope of the disease and the work of the foundation. I note in recent times he has been very reticent about criticising the foundation.”
Westbury suggests that is because Scullion has come to realise the broad community and political support for the MJD Foundation in the territory.
“When Scullion overturned the decision on the money there was outrage in the community. All the Indigenous members of the NT parliament came out and pilloried him. Across all the parties.
“He was forced to agree to provide an amount of money equivalent to what we would have earned in interest on that $10 million – $500,000 a year for three years. That money expires in June this year.”
Given the delicate relations – to put it mildly – between Westbury and the minister, the foundation has tried a couple of times to go over Scullion’s head.
In November 2013, Gayangwa Lalara, the vice-chairman of the MJD Foundation, who was in her 70s and had lost seven siblings, three nieces, a nephew and a grandniece to MJD, wrote to Tony Abbott, seeking his intervention. She described her experience of MJD as “living with dying bodies every day”.
It was to no avail.
This week, in the wake of the appeal court decision, Westbury wrote to Malcolm Turnbull, again seeking prime ministerial intervention, not only to pay the long-delayed grant but to provide one payment of $500,000 to tide the foundation over until the grant money could accumulate interest.
The Saturday Paper contacted Scullion’s office to ask if the grant would be paid. We were first referred to a press release that did not provide an answer. A subsequent response on Thursday afternoon said: “Minister Scullion is carefully considering the full Federal Court’s decision, and noted that at a senate additional estimates hearing on 3 March 2017 that a further appeal is unlikely.”
But still no mention of funding. And so the afflicted wait and the misery grows in remote Australia. At last count, the number of indigenous Australians with MJD was 106, a fivefold increase since the foundation was established nine years ago. And the number of those at risk of developing it was at 624.
This is a cruel disease. The politics of addressing it, however, are crueller still.
This article was first published in the print edition of The Saturday Paper on Mar 18, 2017 as "Territorial neglect". Subscribe here.