A Scots baby has become one of the first in the UK to receive a potentially life-saving drug for Spinal Muscular Atrophy.
Little Isabella Winfield now has the chance at a normal and happy life thanks to a new drug made available on the NHS.
Parents of the six-week-old, Richard and Margaret, now have hope their baby will survive as sadly, if left untreated, 90% don’t survive past their first year of life.
Margaret said they knew within a day something was wrong after the birth on April 30.
Their worst fear was confirmed when doctors diagnosed Isabella with 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.
Margaret, from Elgin, 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.”
She continued: "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.”
Wonder drug Zolgensma has just been made available on the NHS after the health service struck a deal with manufacturers Novartis Gene Therapies and it works to stop muscle deterioration.
Isabella was diagnosed at just 11 days old and nine days later received her potentially life-saving treatment.
Neurologist Dr Iain Horrocks looked after Isabella and her family at the Royal Hospital for Children in Glasgow and has spent his career specialising in neuromuscular disorders in children.
He said: “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.”
The family are now back home in Archiestown, Moray, settling into life with hope for the future.
Margaret added: “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.”
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