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Over the past four decades, Nicole Lynch has watched motor neurone disease strip her family members of their agency and rob years from their lives.
In 1995, her cousin was diagnosed with MND. Not long after, so was another cousin. Her mother died from MND at the age of 51, and her family suspects it killed both of her grandparents on her mother’s side too.
“It’s awful … The worst thing about it is knowing what’s going to happen,” the 54-year-old said.
Her family carries a gene mutation that causes amyotrophic lateral sclerosis (ALS). While ALS is the most common form of MND – the same disease that killed AFL great Neale Daniher – only 2 per cent of people with MND will suffer from this particular mutation.
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Lynch’s 25-year-old daughter carries the gene mutation.
For the first time, patients with the rare form of MND will be able to access a new treatment on the PBS that could extend their lifespan by years. From October 1, Tofersen will be subsidised on the national scheme.
Professor Dominic Rowe is a clinical neurologist who treats several patients with Tofersen. He said the treatment was able to change the progression of disease in people with SOD1-related MND.
When SOD1 mutates, Rowe explains, it acquires what is known as a “toxic gain of function”.
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This means the gene – which, in a body without MND, usually protects cells from damage – instead begins attacking and gradually destroying motor neurons in the brain and spine.
“What the therapy does is reduce the amount of toxic protein in a patient’s motor neurons, and by reducing that toxic protein, improves the ability of motor neurons to survive, and slows the progression of their loss,” Rowe said.
“When you slow the progression of motor neuron loss, you slow the progression of weakness, ultimately translating into improved quality of life and improved survival.”
Lynch, who was diagnosed with MND in December 2021, travels from the mid-North Coast to Sydney every three weeks to receive the treatment she describes as “life-changing”.
Her team administers local anaesthetic before injecting a dose of Tofersen via a lumbar puncture that sends the fluid directly into the central nervous system. Lynch spends the night in hospital recovering.
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She started the treatment in March 2022, and said her deterioration had come to “a standstill”.
A patient diagnosed with MND is expected, on average, to live just two years beyond their diagnosis. Lynch has survived almost five.
“I see the treatment as my best friend,” she said.
She walks with a limp due to muscular atrophy caused by the disease, so her left calf is much skinnier than her right. Between 35 and 40 per cent of MND patients experience their first symptoms in the lower limbs.
Lynch fears, more than anything, how her loss of independence will burden her children in the future.
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“Walking up and down stairs is extremely difficult,” she said. “Having to ask people for help, it sucks. It’s like, hang on, I’m the wife and the mother, I should be doing that … It’s the simple things.
“I have really dark days. But I keep it to myself. I don’t like upsetting other people, I don’t want to be a burden.”
Patients will now pay a maximum of $25 per script for Tofersen. Concession cardholders will pay just $7.70.
Before the subsidy, it cost patients up to $28,600 per dose.
It is the second treatment for MND listed on the PBS by the Albanese government, and the third overall.
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“MND is a heartbreaking, insidious disease that Australians are all too familiar with,” Health Minister Mark Butler said on Friday.
MND Australia chief executive Clare Sullivan said the impacts of the change would be profound.
“Instead of having one or two years from the diagnosis, they can have many, many more years of time with their loved ones,” she said.
But she said the NDIS support packages were insufficient in meeting the needs of patients.
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“People with MND should have automatic access to the maximum funding, and I would argue even more than that … There’s so many things people don’t see,” she said.
Ten per cent of MND cases are genetic, like Lynch’s, while 90 per cent are sporadic. Most cases are caused by environmental triggers.
In June, NSW announced it would make MND a notifiable disease, a world-first move that requires doctors to report diagnoses of MND to a state-based registry.
The change will be instrumental in helping researchers understand what causes the condition.
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Lynch is determined to spend as much time as she can with her four “beautiful” grandchildren, and despite the overwhelming odds stacked against her, draws strength from the steadfast belief that MND will not win.
“I’ve always said I’ll be the first person in the world to beat it. That’s my goal.”
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Emily Kaine is a national news blogger at The Sydney Morning Herald.Connect via email.AdvertisementAdvertisement