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Wonder drug gives NHSGGC team a chance to save baby Isabella

Sunday, June 13, 2021

The parents of a six-week old baby girl who is one of the first in the UK to be given access to a new, potentially life-saving drug are thanking the NHSGGC team for giving their daughter a chance of a normal, healthy life.

 

Isabella Winfield was born on 30 April in Elgin to her parents Richard and Margaret, and within her first day of life it was clear that something was not quite as it should be.

 

Mum Margaret, from Archiestown said: “From her first check-up, the midwife was concerned that Isabella appeared to be floppy and told us she would need to refer her on to the paediatricians. From then they started lots of tests, focussing on her muscle function.

 

“As a new mum it was quite overwhelming. One minute I was a new mum, the next I had a very sick baby. But the team were great and their support was invaluable. Gene tests were started and we waited 11 days for the results.”

 

Tests concluded that Isabella had Spinal Muscular Atrophy. Babies born with Type 1 SMA, which is the most common form of the condition, experience progressive muscle weakness, loss of movement, difficulty breathing. Sadly, without treatment, 90% don’t survive past their first year of life.

 

While this was devastating news, there was hope – in the form of Zolgensma. Zolgensma has just been made available on the NHS after the health service struck a deal with manufacturers Novartis Gene Therapies.

 

Margaret said: “I was aware of Zolgensma but thought it was still in trials. As soon as they said it was available to us, we just thought yes, go for it. We had no hesitation. If it’s available for her, it’s her best hope.”

 

Looking after Isabella and her family was Royal Hospital for Children neurologist Dr Iain Horrocks. Dr Horrocks has spent his career specialising in neuromuscular disorders in children.

 

He said: “Tragically, most babies with Type 1 SMA would die within six months. There was no treatment. It’s a disorder of the Motor Unit and the missing gene means messages from the spinal cord where the gene is located to the muscles aren’t received. This results in muscle atrophy (or death). Typically it presents as babies struggled to feed, but it was often as late as six months before it became apparent.

 

“For the last few years we have had access to a drug which works well in stopping muscle deterioration, but it needs to be given every four months for life. It’s injected into the spine. As they get older, patients hate getting it and there can be problems getting access to the spine, so it’s not ideal. And it’s not a gene therapy.

 

“Zolgensma is a game changer. Time is of the essence – the sooner it’s given the better and muscle function is protected from any further deterioration. Literally every day counts. It’s also less invasive as it’s given as a single, once only infusion, rather than being injected into the spine.”

 

Isabella was diagnosed at just 11 days old and nine days later received her potentially life-saving treatment.

 

He said: “It all happened really quickly. I met them on the Wednesday with the diagnosis “virtually” with my colleague Dr Elma Stephen from Aberdeen Children’s Hospital. We brought them down to the Royal Hospital for Children in Glasgow, the following Wednesday, gave her some steroids, and infused her on the Thursday.

 

“Isabella was the ideal candidate for Zolgensma. As she presented so young she managed the viral load of the gene therapy infusion really well. She was the perfect candidate for this treatment presenting at the perfect age”.

 

“I’m so pleased that we got to her so early. We only treated her about three weeks ago when she was only three weeks old, so it is probably too early to talk about the future, but we are, of course, optimistic. She is prime candidate to do really well with this therapy and we should see some real improvements with her in the next couple of months.

 

“The expectation from Isabella is that she could go on to hit her motor milestones within the WHO (World Health Organisation) classifications, such as sitting, standing and walking. So we really hope she will progress nicely, albeit, she will be a bit weak. We hope she will be able to have a full life whereas a few years ago I would never have been able to talk about SMA babies like this.”

 

Dr Horrocks says he feels re-invigorated in his work, having had so many years where he was unable to hold out any hope for babies like this and their families.

 

He added: “This has radically turned the approach with these patients on its head! It re-enthuses you for your work. I think I can do this for the next 15 or 20 years because it makes it all worthwhile. I am very hopeful for children with this condition in the coming years. It’s life changing.”

 

Back in Archiestown, Richard, Margaret and baby Isabella are settling into life – with hope for her future.

 

Margaret said: “At the end of the day, we have hope for her to go on and be a happy, healthy little girl. We are so grateful to everyone involved.”

 

ENDS

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Last Updated: 13 June 2021