Sheffield Children’s Hospital: Boy with often-fatal genetic disease turns three thanks to gene therapy

Edward is celebrating his third birthday today, September 7, despite being diagnosed with a rare genetic disease which meant he was not expected to live for long.

He was diagnosed with Type One Spinal Muscular Atrophy (SMA1) in 2021, at just 11 weeks old. The disease causes paralysis, muscle weakness and progressive loss of movement, and can often be fatal.

Historical studies showed that before treatments became available, fewer than eight per cent of children with SMA1 type survived to 20 months without permanent ventilatory support. Now, nearly three quarters of children in the UK with the disease are older than two.

Edward’s mum Megan said: “He was like a rag doll. Learning about SMA doesn’t make for good reading, and we were told the prognosis was that he wouldn’t live very long.

"Now, he’s at nursery. He can talk fluently, he’s learning to walk, he sits unaided, eats everything. He’s sweet, kind and funny - he’s literally the perfect kid.”

At 11 months old, he was the fifth patient at Sheffield Children’s and one of the first in the UK to receive Zolgensma, a type of gene therapy. He has recently been told unexpectedly that he will be able to walk unaided in the future.

Zolgensma is a one-off treatment given via a drip over the course of one hour. Sheffield Children’s Hospital was chosen in 2021 as one of only four UK sites to provide the treatment.

Previously, he had been receiving another drug called Spinraza, but Megan said she could “see the effect wear off between doses like he was running out of battery”.

“When we got the call from Sheffield Children’s and made the trek up, it was surreal. It was like I got my baby back,” she adds.

“He was babbling, putting his feet in his mouth, sitting up – it was all so sudden. And his voice! When he cried, it was like, ‘Where did that come from!’. He just went up, and up, and up.

“We are so grateful for the care we’ve received. The nurses treated us like family – it wasn’t just a job to them. We had to leave each night and I had to trust them to look after Edward with my whole heart, and I did. This drug has given Edward a life.”

Edward now has physiotherapy sessions closer to home in Essex. 

Staff nurse Sally Roberts, who administered Edwards’ infusion in 2021, said at the time: “It’s quite emotional and a big responsibility as a nurse, it’ll help patients in their future and that’s brilliant. We see patients with SMA regularly, and it’s amazing that Sheffield Children’s is able to offer it to these children.”