Motor neurone disease destroyed my life – now the drug that gave me hope is being taken away

In 2019, Eleanor Dalley became one of the six people who are diagnosed with MND per day in the UK – David Rose for The Telegraph

When you have a terminal illness like motor neurone disease (MND) you really need to cling hard onto any hope you can. It’s horrifically cruel, and while the scientist Stephen Hawking lived with a type of MND for 55 years, in fact a third of people die within a year of being diagnosed – and more than half within two. The disease attacks the nerves that control movement, which can leave people locked in a failing body, unable to move, talk and eventually breathe.

The fact I am still here now is something of a miracle. Yes, I’m on borrowed time, but I’m “lucky” that my MND is the slow progressing kind, and that I fought tooth and nail to be allowed onto an early access programme for a drug called tofersen. It only works for MND sufferers like me, with alterations in the SOD1 gene (around 60-100 people in the UK). But following a heartbreaking decision by the National Institute for Health and Care Excellence (Nice), tofersen is unlikely to ever be available on the NHS.

While there currently is no cure for MND, taking tofersen has meant I’ve been able to live to see my daughter get to secondary school. I’m now fighting for others to be granted that same privilege; for us it’s the difference between life and death.

According to the Motor Neurone Disease Association (MNDA), a person’s lifetime risk of developing MND is around 1 in 300, and in July 2019 I became one of the six people who are diagnosed with MND a day in the UK. My prognosis was a grim 18 months to two years.

I was 43 and working as a director of a luxury retailer. I lived in Barnet, north London, with my husband and our daughter Olivia, then just nine years old. Earlier that same year, my aunt had been diagnosed with MND at 58, and I’d recently lost another aunt to the disease at 65. I knew, deep down, that there was a possible genetic predisposition in the family and prayed I didn’t have it.

So when I noticed while stretching in the gym that I couldn’t stand on tip toes with my left foot, I started to panic. Friends reassured me I was “too young” for MND and I desperately wanted to believe them. I went to the osteopath hoping it was something that could be mended. It took months before I finally went to the GP, in January 2019, who referred me to a neurologist. After a nerve conduction test, an MRI, blood tests and a lumbar puncture, my MND diagnosis was confirmed. I didn’t burst into tears until I got in the car, because after my aunts had it, and with all the tests carried out over the period of months, I knew it had been coming. But the next six months were a dark time. I call it my “crying stage” and I needed counselling.

Eleanor: ‘I knew, deep down, that there was a possible genetic predisposition in the family and prayed I didn’t have it’

I told my employers, who were great, and a few close friends. But I didn’t want to burden Olivia, who was still so young. All I could think about was what I was going to miss – my daughter starting secondary school, getting married, the holidays and fun we would never have together. I didn’t want her to see me crying so I’d put on a sad film to explain my tears.

Six months later, more tests showed I had the SOD1 MND gene. This form of the disease is caused by a rare genetic mutation, found in just 2 per cent of all cases, but as much as one in five cases where MND runs in families. The faulty gene triggers the cellular production of a protein which is toxic to motor neurones.

Within the first year, I lost muscle strength in my legs and needed to start using walking aids and eventually a wheelchair when I went out. We moved house in spring 2021 to a property that could be adapted to my changing needs. But then in spring 2022, my marriage fell apart. Not having the support of a partner had a negative effect on my health, and my legs began to further deteriorate.

I couldn’t turn over in bed without using my arms to lift my legs, and doing the basic things like emptying the washing machine became impossible as I couldn’t stand up without support.

But I didn’t want to let what was happening in my relationship affect my health – easier said than done – and I still wanted to manage things around the home, because I hated the thought of not being able to care for Olivia in the normal “mum” way, and didn’t want her childhood cut short. Blaming “my funny legs” and explaining there would be people popping in the house to assess what help I needed, it was then that I got my electric wheelchair which was a godsend in helping me do things at home. I also had six months of counselling, which helped me to try and remain positive.

Eleanor with her sister and friend at Rob Burrow Leeds Marathon for MNDA

Luckily, because I was told my MND was “slow progressing”, I had the time after my diagnosis to research everything I could lay my hands on, and I found out about tofersen which had had some success in clinical trials. So I fought tooth and nail – changing consultants and writing to everyone, all over the country – to ask to be put on the early access programme.

Then in November 2020, my 63-year-old father, Owen, was also diagnosed and died just nine months later. It was just devastating how this disease was tearing through our family. Olivia is an intelligent girl and after her grandpa died she worked out for herself that it was genetic. She asked: “Will I get it?” I told her there is a 50 per cent chance, but said “Let’s hope you get Daddy’s genes for this”. Children can’t be tested, so it will be up to her one day, but I am praying there will be a cure by then.

I had to remain optimistic, and at least I could tell her that I was taking the drug, that there was hope. I started the programme in November 2022, which is currently paid for by the US company Biogen. Every month I go for a lumbar puncture and have a vial of the drug injected into my spine, which costs an eye-watering £29,000 each vial. A total of £350,000 a year, I could never afford this privately.

Since that first treatment, I’ve experienced no further decline. There have even been small but, for me, significant improvements: I can move my legs in bed unaided and can get on the massage table by myself. I still can’t walk unaided, but these small things are mini miracles to me, which my family and I prayed for. I didn’t think I would see my daughter go to secondary school, but she’s now 14.

Eleanor: ‘I feel in a privileged and lucky position to have the drug, and I pray it’s giving the research community the time to find more answers’

My loved ones were so relieved when I started the treatment, not just for me but because they know that if it happens to any of them, then at least there is this medicine that can potentially help them, too. As Olivia said to me: “This treatment, it gives you hope, and it gives us a chance of a cure”.

I can’t yet bear telling her the latest, devastating news that tofersen is unlikely to ever be available on the NHS. But I am already outliving the odds and this July will be my five-year post-diagnosis anniversary. Tofersen has given me the courage to think longer term.

I will turn 50 in October 2025 and am daring to plan a girls’ trip with my friends and a holiday with Olivia to celebrate the milestone that I never imagined I would see. I feel in a privileged and lucky position to have the drug, and I pray it’s giving the research community the time to find more answers and a cure for this evil disease. MND has taken my loved ones but it’s not going to take my hope for the future.

As told to Susanna Galton

What is tofersen?

Tofersen is a drug is targeted to treat people living with MND who have alterations in the SOD1 gene – approximately 2 per cent of the MND population (estimated at

up to 100 people in the UK). The drug, administered through a lumbar puncture, is specifically designed to treat familial MND caused by mutations in the SOD1 gene. It uses an approach known as “antisense”, in which the drug directly interferes with the faulty instructions for making SOD1 protein, thus stopping the production of the disease-causing substance.

Why won’t the drug be available on the NHS? 

A decision taken by Nice means it is unlikely the treatment will be accessible to patients through the NHS. Nice has decided to appraise tofersen through the single technology appraisal (STA) route, rather than the highly specialised technologies (HST) route.

Ordinarily, products targeted at rare diseases (affecting less than 1 in 50,000 people in England) are assessed through the HST route. However, Nice will conduct a standard appraisal, because it does not view SOD1 MND as a clinically distinct disease.

As such, it is highly unlikely that tofersen will receive a positive decision if evaluated through the standard route, meaning that it will not become accessible to patients through the NHS.

A Nice spokesperson said: “Our topic selection oversight panel carefully considered whether to route the technology [i.e. send it down the pathway] to the HST rather than the STA programme. But this therapy does not meet the criteria for the HST programme.

“Nice’s independent committee hasn’t yet met to consider the evidence for tofersen now that it has been routed for evaluation and therefore no decision on whether the therapy will be made available to eligible patients on the NHS in England and Wales has been made.”

For more information about MND and the MND Association please visit www.mndassociation.org

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