Newborn baby given potentially life-saving new drug

A newborn baby has become one of the first in the UK to be given access to a new, potentially life-saving drug.

Isabella Winfield was born on April 30 in Elgin to parents Richard and Margaret, but within a few hours, it was clear the newborn wasn’t well.

Mum Margaret, from Archiestown, Moray 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.

Without treatment, 90% of children don’t survive past their first year of life.

However the new family were given hope after new drug Zolgensma was 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.”

Baby Isabella with parents Margaret and Richard Email

Looking after Isabella and her family was Royal Hospital for Children neurologist Dr Iain Horrocks, who 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.

Dr Horrocks 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 a 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.

“I am very hopeful for children with this condition in the coming years. It’s life changing.”

Richard, Margaret and six-week-old Isabella are now settling in at home in Archiestown and are hopeful for the 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.”