The parents of a sick six-week old baby girl have thanked Glasgow doctors after she was one of the first in the UK to receive a potentially life-saving drug.
Little Isabella Winfield was born in Elgin in April and within the first day of her life her mum and dad knew something was not quite as it should be.
After her first check-up, the midwife looking after Isabella expressed concern that she appeared to be floppy and referred her on to a paediatrician, prompting a number of tests focussing on her muscle function.
Mum Margaret said: “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.”
The tests concluded that Isabella had Spinal Muscular Atrophy, a condition which causes progressive muscle weakness, loss of movement, difficulty breathing.
Sadly, without treatment, 90 per cent don’t survive past their first year of life.
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However doctors at the Royal Hospital for Children in Glasgow were able to offer the little girl Zolgensma, a potentially life saving drug which has just been made available on the NHS.
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.”
Isabella was diagnosed at just 11 days old and nine days later received her treatment.
(Image: NHS GGC/Handout)
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.”
