A father-of-five who is still running three years after being diagnosed with motor neurone disease is fighting for NHS access to a life-changing drug. Sean Davies, 56, believes monthly doses of the groundbreaking medicine, tofersen, have helped him hold onto his mobility — and could allow him to live a normal life.
The keen runner, who has completed ultra-marathons, recently crossed the finish line of a 5km Parkrun in just 33 minutes. Tofersen targets a rare, inherited form of MND caused by the SOD1 gene variant, affecting around 2% of all people with the disease.
Sean’s father carried the same gene mutation and died just five months after his MND diagnosis in 2004. The decorated war veteran was left bed-bound, in constant pain and barely able to speak as the disease took hold.
Sean’s brother and sister also have the variant. He said: “My brother is two years older than me. He was diagnosed after me and he can’t run anymore and has some difficulties with mobility and walking. In our family, we follow a fairly fixed line of decline. So I’m very confident that without tofersen, it’d be very unlikely I would be even walking now.”
Sean first noticed something was wrong around eight years ago, when his running times started to slip and his right leg began collapsing.
His diagnosis left him feeling there was “no hope” and took a heavy financial toll. He and wife Mary were in the middle of building a home when their banks called in mortgages and his life insurance cover was declined.
Then genetic testing confirmed he had the SOD1 mutation. Now Sean makes a 2.5-hour journey from his home in Nocton, Lincolnshire, to a Sheffield hospital every month to receive tofersen.
The treatment is delivered into the fluid around the spinal cord through a lumbar puncture, a procedure involving numbing injections followed by the insertion of needles to administer the drug.
His brother is also receiving tofersen and his symptom progression appears to have slowed. His sister is not taking the drug yet, as women in their family tend to be affected later in life. But while the treatment has given Sean hope, his access to it is not guaranteed.
Sean and around 60-70 other patients get tofersen through an early access scheme, under which its US manufacturer, Biogen, supplies the drug to participating NHS trusts free of charge.
Sean said: “We’re at their mercy. And with our current state of affairs with America and things going on there, it is a constant background worry that it might stop.”
The National Institute for Health and Care Excellence (NICE) is due to announce a decision within days on whether tofersen will be recommended for routine NHS use.
Sean and the MND Association met with NICE’s Highly Specialised Technologies Evaluation Committee on Thursday to make the case for approval. He told the expert panel that time was of the essence for people with this diagnosis.
He said: “The longer you don’t get treatment, the worse your condition gets. So if they delay it, we’ve got a lot of people who could have been kept in work or could have been kept functional that aren’t going to be.
“There are so many people I meet when I go for my injection that have been delayed by a year or two years, and because of that delay, they’re in a wheelchair. They can’t use their hands and they’re losing their speech. If they received the treatment earlier, they wouldn’t be there. They could be walking and talking.”
Sean is also fighting for future patients, which could include his children, aged between 17 and 30. They each had a 50/50 chance of inheriting the SOD1 variant and have not yet been able to access NHS genetic testing.
He added that MND “has been a death sentence” for too long and, although tofersen only benefits a small proportion of people with MND, it has brought science “a step closer to a cure’. Sean said: “The fact that we’ve made this one step, that’s a huge amount of hope.”
This story originally appeared on Express.co.uk
