<div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Jenny Richmond's girlfriends were the first to notice her limp during their weekly walks.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"I said no I don't think I'm limping and they said yeh you're definitely limping," Jenny, 69, said.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>But as the weeks went by, the limping worsened, and Jenny started to connect the dots.</span></div></div><div><div id="adspot-mobile-medium"></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><strong><span>READ MORE: </span></strong><a href="https://www.9news.com.au/national/heavy-rain-thunderstorms-queensland-new-south-wales-when-will-it-end/753d600f-2f82-4d4b-b451-f1fee0ac0396"><strong><span>Aussie state at 'risk of tornadoes' as severe storm approaches</span></strong></a><span></span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Motor neurone disease (MND) had already afflicted members of her family, including her mother, who passed away from it at the age of 70.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"Unfortunately my mum had motor neurone, she had it for two years," she said.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Jenny's nephew was only 18 when he also passed from the disease. His first sign was a limp.</span></div></div><div><div class="OUTBRAIN" data-reactroot="" data-src="//www.9news.com.au/health/health-news-motor-neurone-disease-new-drug-tofersen/5bc74c28-64b1-4d66-9eb2-4ed5c33cf903" data-widget-id="AR_5"></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>The underlying culprit is a genetic mutation called SOD1, technically known as superoxide dismutase 1.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><strong><span>READ MORE: </span></strong><a href="https://www.9news.com.au/national/nab-fixed-rate-increase-bank-hikes-fixed-rate-mortgages-after-may-rba-meeting/b993da99-8e04-46d1-a984-c0dda7406b00" rel="" target="" title="Big four bank's decision spells doom for borrowers"><strong><span>Big four bank's decision spells doom for borrowers</span></strong></a><strong></strong></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>It binds to messenger RNA to reduce the amount of harmful SOD1 proteins that build up in the nerve cells.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>It has been shown to reduce key disease markers in the spinal fluid, including neurofilament (NfL) which measures nerve loss.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Studies spanning up to four years have also produced very promising results.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Jenny has been receiving monthly injections of Tofersen through the spine since November 2025.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"I had some major falls before that but I haven't had any falls since," she said.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>The only side-effect Jenny has encountered is headaches, which are linked to the lumbar puncture.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Studies also show earlier intervention leads to better outcomes.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"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.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>Jenny tries to remain positive and is focused on being around for her close-knit family, including her three children and seven grandchildren.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"They're my life," she said.</span></div></div><div class="block-content"><div class="styles__Container-sc-1ylecsg-0 goULFa"><span>"So I would like to be around for them to see them grow up a bit more."</span></div></div>