It was during their routine walks that Jenny Richmond’s friends first observed her unusual gait.
“I told them, ‘No, I don’t think I’m limping,’ but they insisted, ‘Yes, you’re definitely limping,'” recalled Jenny, now 69.
As time progressed, Jenny’s limp became more pronounced, prompting her to piece together the clues.
Motor neurone disease (MND) had already cast a shadow over her family, claiming her mother, who succumbed to the illness at 70.
“My mum, unfortunately, battled motor neurone disease for two years,” Jenny shared.
Tragically, her nephew also fell victim to the disease at just 18, with his initial symptom mirroring Jenny’s—a limp.
“His was very aggressive, and he only had it for 10 months from the time he was diagnosed to the time he passed away,” she said.
The underlying culprit is a genetic mutation called SOD1, technically known as superoxide dismutase 1.
It affects up to two per cent of all MND cases and was discovered in 1993. It was the first genetic trigger identified, with SOD1 being mostly inherited.
Professor Steve Vucic is currently treating Jenny with a new drug called Tofersen, which is the first targeted treatment to slow the disease in people with SOD1.
It binds to messenger RNA to reduce the amount of harmful SOD1 proteins that build up in the nerve cells.
“Tofersen is a huge advance, it’s the first of its class of treatments,” Professor Vucic, University of Sydney and Senior Neurologist at Concord Hospital, said.
It has been shown to reduce key disease markers in the spinal fluid, including neurofilament (NfL) which measures nerve loss.
Studies spanning up to four years have also produced very promising results.
“Not only does it slow down functional decline and muscle weakness, but in about 20 to 30 per cent of patients it improves function and muscle strength which has not been shown by any other medication so that is really exciting,” said Vucic.
Jenny has been receiving monthly injections of Tofersen through the spine since November 2025.
“I had some major falls before that but I haven’t had any falls since,” she said.
“I feel like the drug is definitely working. I say to the kids what do you think, am I getting any worse, and they say I think you’re staying at bay,” she said.
The only side-effect Jenny has encountered is headaches, which are linked to the lumbar puncture.
“Pleasingly, patients have tolerated Tofersen quite well, certainly in our cohort and that’s what has borne out in these larger studies that have been published,” said Vucic.
The promising data and the urgency in treating this rapidly progressive disease recently led the Therapeutic Goods Administration to grant provisional approval of the drug, giving eligible patients in Australia faster access.
Studies also show earlier intervention leads to better outcomes.
“The availability of a targeted treatment reinforces the need for clinicians to act with urgency; any suspicion of MND should prompt immediate referral to a neurologist or specialist centre,” said Professor Matthew Kiernan, chief executive of Neuroscience Research Australia.
While people with other forms of MND are not eligible for Tofersen, Professor Vucic says research is ongoing and he expects other advances in therapy will follow in the next one to two years.
“There are over 40 different genes implicated in motor neurone disease and there are other boutique genes so you wonder what the future holds and that’s one of precision medicine,” said Vucic.
Jenny tries to remain positive and is focused on being around for her close-knit family, including her three children and seven grandchildren.
“They’re my life,” she said.
“So I would like to be around for them to see them grow up a bit more.”
