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Edward’s story: What happened after his Zolgensma gene therapy?

A young boy looks at the camera, resting his face on his hand while sat in a pedal car.
29 August 2023

In 2021, when he was just eleven months old, Edward became one of the first patients in the UK to receive the potentially life-saving gene therapy, Zolgensma, at Sheffield Children’s.

Now nearly three, Edward is “doing amazingly well”, said his mum Megan. “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.”

Passing all of these milestones originally looked unlikely for Edward before he received treatment, as he has Type One Spinal Muscular Atrophy (SMA). This is a rare and often fatal genetic disease that causes paralysis, muscle weakness and progressive loss of movement.

Megan said: “He was diagnosed at eleven weeks old and by that time he had lost nearly all his movement and 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.”

In 2021, Sheffield Children’s Hospital was selected as one of only four sites in the UK to provide Zolgensma, which can prevent paralysis and prolong the lives of children with SMA. The Trust has been at the forefront of treating children with SMA since 2017, and was recognised as a national Neuromuscular Centre of Excellence by Muscular Dystrophy UK in 2019 due to its commitment to diagnostic and medical excellence and research.

For Megan, the opportunity for Edward to receive this treatment was a lifeline.

A young boy is sat on a high chair in a restaurant wearing a pair of aviator sunglasses.“Although Edward was receiving Spinraza (another drug used for the treatment of SMA), he had no energy – you could see the effect wear off between doses like he was running out of battery. We had seen some of the amazing results from Zolgensma in the US and it was a light for us in the following ten months because the wait was painstaking, and we needed to be in isolation.

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

Edward now has physiotherapy sessions closer to home in Essex. His physiotherapist has said that in the future he will be able to walk unaided, a goal which Megan thought she would never see him achieve.

“We are so grateful for the care we’ve received – this one-time infusion of Zolgensma is a drug which has given Edward his future.” said Megan. “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”.

“All successful things start with an idea, and, especially in medicine and diseases, it’s incredibly important. This drug has given Edward a life.”

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