Motor neuron disease: “It’s as if a death sentence hangs over his family …”

Her father, uncle and a cousin also died – all within a year of diagnosis and in most cases after just a few months.

Cris is supporting a Sunday Express campaign calling for government funding of £ 50million over five years to create an MND research institute to coordinate national research to find effective treatments and hopefully a cure.

Advances in gene therapy are expected to provide a lifeline for the 10 percent of patients with MND who inherit the rapidly progressive terminal disease that affects the brain and spinal cord.

But funding is urgently needed to move faster.

Cris, 70, says that whenever his male relatives experience pain or pain, they fear it is the onset of MND. She said: “I would describe it as the sword of Damocles hanging over your head.

“As a family we have to recognize what’s going on and then it’s ‘oh no, not another’ and ‘who’s next?’

“You have to try to live your life as much as you can, but we can never forget that.

“Whenever there is a diagnosis, it brings back all the others from the past, so that a diagnosis is not just one, it is amplified and digs up all those memories of the people we have buried and of what we’ve been through before, especially for us with the two children. “

Cris, a retired university professor from Wigan who advised local authorities and charities on youth protection and education after first working as a high school teacher for 20 years, was born after the death of his grandfather John Hewlett.

All she knows about him is that “he passed out” when he was 31 or 32 years old in 1937 or 1938, when his father Thomas, said Tommy, was about nine years old.

She said: “I described the symptoms to professionals and they said it was MND. Then my dad Tommy started blurring his speech in the summer of 1991.

“He worked for the board and was a binman but lately he’s described himself as a garbologist and then a garbage disposal officer, so he was a character.

“He was a Morris dancer and folk singer and had been on TV several times, so he was well known in Wigan. He had a fall in the yard where he was working, so he assumed he was from banging his jaw, but he was sent to a neurologist and diagnosed with MND in August. We didn’t know anything about it at the time, just that David Niven had had it.

“I misunderstood him for a few years after that. He passed away in September just before his 63rd birthday.

“There was no mention that it was caused by a family gene at that time.”

Cris and her husband David, 73, a retired forklift driver, met while she was a student. They married in 1973 and had two sons, James, born in 1975 and John in 1978.

After Tommy’s death in 1991, 13 years passed until John began to suffer from symptoms in 2004 when he was just 26 years old.

Cris said: “He had had a bad cold in the summer and we assumed he was suffering from post-viral fatigue. He saw his GP who said his blood was not okay so she ordered some. more in January 2005.

“He was doing a sports diploma but worked in furniture making and had trouble planing a piece of wood.

“When he went to the hospital they noticed weight loss in his shoulders. He was referred to Salford Royal where they were diagnosed with MND in February 2005.

“John lived with his girlfriend Terrie. He had no children but she had two. He married her in June.

“They went on their honeymoon and when he came back in July, they said he was deteriorating and he couldn’t walk.

“He went to the hospital but told me he wanted to die at home, so we took him home and he died in November at the age of 27.” She added: “It was very difficult. I was working for a charity in Brighton at the time, but luckily a lot of my work could be done at home, offering policies and courses.

“I used to go to Brighton once a month to give training.”

“John was at Wythenshawe Hospital near Manchester, so I would get up at 5am every morning and work from 5.30am until lunch, then go to the hospital so I could give him his meals.”

“I stayed with him until the evening and went home, then did the same thing again.”

People would say, “I don’t know how you did that”, but back then you just just pilot automatically and do it. I was doing a 70 hour week with work and attention, but you just keep going because there’s nothing else to do. “

At this point, Cris and his four siblings – three siblings and one sister – spoke to a specialist about a possible genetic link to the disease, but were told there was no way to predict who would or would not obtain an MND.

So they decided that there was little to be gained from whether the gene was in the family.

Cris said: “Since I had eight or nine year old nieces and nephews at the time, we didn’t want them to worry for the rest of their lives if they had the gene.” Next to get

MND was her uncle Tony Hewlett, her father’s brother, diagnosed in 2013, aged 80 and died a few months later.

The following year, one of Cris’ cousins ​​was diagnosed and died a few months later, just before his 55th birthday.

Cris said: “Then we continued as usual until last summer when my oldest son James, who was a porter at a local hospital, fell ill.

“During the lockdown, because he was on medication for rheumatoid arthritis, they wanted him to protect himself. But he felt his job was vital, so he asked the consultant to change the medication so he could continue to work.

“We’re really, really proud of him for that.

“Last summer he started having mild swallowing problems which then got worse.

“He saw a GP and they ruled out cancer, but over time and he started blurring his speech, I think we knew that.

“His wife Gemma was having a hard time coming to terms with this but he started to lose weight and, because it was during the pandemic, he was sent to a specialist center and diagnosed last October and he died in January, in the age of 45. “

Cris added: “It was very, very difficult. People say to me, ‘Eventually everything will be fine because you have already been through it’, but no, it’s completely different.

“With our other son, we were ready to say goodbye because we had seen him deteriorate.

We reached a point as parents with John where we felt we had to let him go, but we never got close with James.

“Also the difference is when John died we had James, but when James died we didn’t have anybody so it was really tough and it will take a long time to get over it.

“I think our grieving process was delayed because of the shock.”

Cris hopes that research into gene therapy in the UK will spare future generations of her family… ”the pain she has suffered, but she wants Health Secretary Sajid Javid to pledge to fund it correctly.

She said: “My message to the government would be: ‘Please help this campaign, help us find a cure so that other families do not have to go through what we have been through because this’ is absolutely horrible ‘.

“It’s for future generations and for everyone, because the chance of getting this is one in 300.”

She added: “When you are diagnosed with cancer you are told what treatments you can get, but there is nothing for MND, it is a death sentence.

“That’s why we really need this research, because why should families continue despite this? A diagnosis shouldn’t be a death sentence.”

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LADY PAM SHAW’S COMMENT

“More funding will help us develop promising genetic therapies”

I believe that MND is poised to reap the benefits of recent exciting discoveries in neuroscience that have led to a better understanding of the mechanisms of motor neuron damage. Much of this progress has been spearheaded by British research teams. We now have a much better understanding of the genetic susceptibility factors that can cause MND.

Preclinical work from our research institutes has confirmed that gene therapy trials may be beneficial for patients with MND. The first gene discovered to cause MND is known as SOD1 and is present in two percent of patients with MND. A genetic therapy trial has been underway in Sheffield for four years and the published results of phase two are really promising. Patients have reported stabilization or improvement in their muscle strength.

The final results of the phase three trial are expected in the coming months. Another benefit of this pioneering trial is that we finally have a biomarker (a protein that can be measured in blood or cerebrospinal fluid) that shows whether a treatment is working. This should allow us to test new treatments much faster in the future. An increase in funding will allow us to capitalize on these promising developments much faster to bring hope and benefit to patients and families facing this distressing disease.

• Pam Shaw is Professor of Neurology at the University of Sheffield and Director of the Sheffield Institute for Translational Neuroscience