In 1998, around the year UQ Emeritus Professor Perry Bartlett began his pioneering research into Motor Neurone Disease (MND), US activist Jesse Jackson said, “We can win, we must never surrender…keep hope alive!” And that’s exactly what those dealing with the ‘mighty nasty’ have been doing ever since.
Monday 16 July 2018 should have been a glorious day of celebration for Sunshine Coast Council Executive Officer and former UQ staffer Robyn Humphreyes-Reid (Graduate Certificate in Arts (Writing, Editing and Publishing) ’10, Graduate Diploma of Business ’13). It was the day she received the all-clear from the aggressive cancer that had ravaged her body five years earlier, claiming both breasts in its wake.
And it was indeed a day to rejoice. For a while.
Unfortunately, for the woman whose ‘glass-half-full’ attitude and sunny disposition had enabled her to achieve that momentous five-year milestone, it turned out to be a 'Mighty Nasty Day' indeed. Because Monday 16 July 2018 was also the day that her husband, Ross, received official confirmation of his Motor Neurone Disease (MND) diagnosis.
“We were pretty devastated,” she said.
“Ross is very sad a lot of the time now and I’m not really sure how to help: I just keep hoping the happier days outnumber the sad ones.”
According to the Queensland Brain Institute (QBI), the ‘mighty nasty’ Motor Neurone Disease, once known as creeping paralysis, affects around 2000 people in Australia at any given time (60 per cent male and 40 per cent female). A progressive disease, it has few treatment options and the sole medicine available, Riluzole, produces only modest results.
MND causes individual parts of the body to stop functioning. First, the extremities falter, and finally, the lungs fail. Brain function remains relatively unaffected, although subtle changes can occur.
For 10 per cent of cases, the condition is hereditary, but for the remainder, there is no discernible cause. Environment and lifestyle factors may play a role, but researchers are unsure.
Initial signs of MND include clumsiness, stumbling, slurred speech, difficulty swallowing, muscle cramps and general fatigue. Ross has all these symptoms – but not all the time and not all at once. And for a man who used to love his food and the art of cooking, his appetite has now diminished; he is losing weight. He is also prone to unexpected emotional responses, such as random crying or inexplicable rage. This is probably the hardest issue for him to deal with at present.
The average age of onset is 59 – almost exactly Ross’s experience – and the average length of life once diagnosed is 27 months. There is no cure.
MND costs the Australian economy more than $2 billion per year. The emotional costs cannot be measured.
“I knew something was wrong,” said Ross (pictured), former pharmacy student, footballer, camp cook, public servant and 'home handyman extraordinaire'.
“My head kept drooping, no matter how much I tried to keep it straight, and I had no energy. Even the smallest tasks seemed insurmountable – but I just thought I had a virus and that I’d get better.”
However, Ross did not get better: the self-proclaimed ‘glass half empty’ guru – the perfect complement to his wife – became progressively worse. Jobs that should have taken him 20 minutes now took eight hours or more.
Then he developed uncontrollable twitching – fasciculations – across his torso. When he finally went to the doctor, he was told that he had either a brain tumour, Parkinson’s or, most likely, MND.
None of which engender great hope for the future.
It was a cruel twist of fate for the man who had always been a physically capable person, someone able to work out what’s wrong with an object and then fix it, a person used to looking after others.
But now he feels like a puppet with someone else pulling the strings: he’s even had the image of a puppet tattooed onto his once strong forearm.
Needless to say, he rues "being played" and losing the control over his own body that he once took for granted.
Images of Ross and Robyn Humphreyes-Reid: Anjanette Webb
One known fact about the ‘mighty nasty’ is that some proteins go awry in the brain and kill neurons, the fundamental units of the brain and nervous system that send messages from our brain to our muscles, telling them what to do. Why proteins become dysfunctional – and how they then ‘melt’ the neurons to create such mayhem – is the mystery that UQ researchers are desperately trying to solve.
With her oversized glasses and earnest but compassionate demeanour, Dr Shyuan Ngo (Bachelor of Science (Honours) ’03, Doctor of Philosophy ’09) may well be the Watson to pioneering brain-researcher Emeritus Professor Perry Bartlett’s Holmes in being able to crack this puzzle.
CSL Florey medallist Bartlett, founder of the Queensland Brain Institute (QBI) at UQ 16 years ago, has been investigating the causes of MND for more than two decades. He established that the EphA4 protein regulates the progression of MND through its involvement with motor neuron loss in the spinal cord. Researchers in his lab at QBI are now investigating how different forms of this protein impact the progress of the disease, and what potential therapies it can produce.
His team has developed and manufactured a unique drug that blocks the action of EphA4, and planning for Phase 1 clinical trials (Phase 1 is when a drug is deemed to have no side effects and won’t do any harm; Phase 2 is when manufacturers aim to find any benefits, but the sample size is small; and Phase 3 is extensive multinational trials). He is keen to see his discovery translated into potential treatment for patients with MND.
“I was drawn to neurobiology because I viewed it as the last frontier of biological discovery," Professor Bartlett said.
"Understanding how the brain works will reveal how functions like memory and learning are regulated, and provide the basis for developing new ways to combat brain disease – which currently accounts for about 30 per cent of the burden of disease in our community."
Dr Ngo, who is the Scott Sullivan MND Research Fellow at QBI and Group leader at the Australian Institute for Bioengineering and Nanotechnology (AIBN), is looking at a potential cure for MND from quite a different perspective: the causes and consequences of human metabolism going wrong.
She is interested in understanding how maintaining a stable internal environment (homeostasis) that lets the body’s systems work to maximum efficiency (metabolism) can impact upon neurodegenerative processes. She works with scientists and clinicians across Brisbane and around the world to address how changes in energy metabolism affect the course of MND and is keen to identify which particular metabolic pathways are disrupted so that they can be specifically targeted to help prolong survival.
“Part of our research looks at blood and other biomarkers to determine how cells in the body respond to disease, and how they can lead to the body using energy inefficiently,” Dr Ngo said.
“Through the research we do with patients in the clinic, we are learning new things every day. My team uses this knowledge to investigate how particular drugs can be repurposed to correct MND’s defective energy use. We look at the energy equation from all angles and have a theory that the gut microbiome might also be implicated. I would specifically like to know how altered glucose and fatty acid metabolism contributes to the progression of MND, and we are using both stem cells and mouse models of MND to tackle this question.
“MND is a tough disease. But, through research, there is hope that we will beat it. For me, it is not a matter of if, but when.”
One ray of hope in an otherwise dark outlook for Ross is the service he has received from the National Disability Insurance Scheme (NDIS). Unlike some potential participants, having MND means there is absolutely no question about whether or not he is eligible to receive help.
Both Ross and Robyn have nothing but praise for the service since the NDIS rolled out to the Sunshine Coast in January this year. Under the guidance of his case manager, Ross can now access services and aids for little or no cost – a scooter, household help, home modifications, and services including palliative care, occupational therapy, speech therapy and physiotherapy are just some of the recent additions to his life he has come to rely on.
“Breathing is a big issue for people with MND, when muscles don’t work well enough to keep the airways open,” Ross said.
“I’m particularly happy to have a neck brace to prevent my airways being crushed and a CPAP mask that forces more oxygen into my lungs.”
While it would be wonderful for Ross not to need the NDIS, the only solution is to find a cure for MND; however, this will only happen if more research can be conducted. Fortunately, the impetus has begun.
The Queensland Brain Institute's first philanthropic donor, Ross Maclean.
QBI’s first philanthropic donor, quite coincidentally, was also called Ross – Ross Maclean – and he too suffered from MND. Despite knowing that any treatment discoveries would be too late to help him, in 2003 Maclean did not hesitate to donate a vital piece of equipment to Professor Bartlett to ensure his MND research could continue.
Although Maclean died in 2005, his family has continued the generosity through their son Jeff, who established the Ross Maclean Senior Research Fellowship in 2004. To date, more than $1 million has been raised.
The results of their fundraising efforts are, hopefully, about to yield results with the current clinical trial Professor Bartlett and his team are conducting.
At present, there is no panacea, unlike a cancer diagnosis, devastating as it is, where there is hope of recovery – Robyn being the perfect case in point – MND has no cure, which is why researchers are so keen to find a treatment.
Ross’s mantra of 'no pity, no denial' means he is trying to engage with others in this spirit. Knowing that he will soon die, he’s living each day on his own terms and is now convinced that he’s in a better situation because whenever he sees anyone, he makes sure to part on good terms.
“If I were to die suddenly, I would be robbed of that opportunity, but I do struggle to say goodbye sometimes. I’m lucky to have a wonderful family and a caring network of friends.”
He’s had the chance to catch up with many friends he may not otherwise have seen, and despite having at least one low point each day when he just wants to die, he is trying to ensure that misery hates company. He does not want the ‘mighty nasty’ to wreak havoc with any more lives than it needs to and has encouraged his wife and children to follow their dreams and pursue their own life goals.
Ross’s son Harry (Bachelor of Arts ’19) has heeded his advice, completing his degree and preparing to move to The Netherlands to live with Dutch fiancé Anouk. Daughter Aynsley, previously a rural and remote nurse in Nhulunbuy in the Northern Territory, has relocated to the Sunshine Coast with husband Cam. All are looking forward to celebrating Harry’s impending nuptials in Europe.
So, does Ross have any theories of his own about why he became ill?
“I think it’s because I had an abrupt lifestyle change –I suddenly stopped a lot of physical work and just sat around a lot – but really, I have no idea.
“I am trying to make sense of it myself and focus on every day being good if I can see some beauty or make some contribution. I listen to music a lot and watch nature, and I have made myself available for any and all clinical research programs I am eligible for; I just need to get my lung function up.
“Hope is what you lose when you have a terminal illness, but I’d like to ‘keep hope alive’ for those in future.”
To find out how you can help support Motor Neurone Disease research at UQ, visit UQ's Not if, when giving page for MND.