Colchester boy given £1.8m drug gets new life

A five-year-old boy who was given the world’s most expensive drug as a baby has made “incredible progress” and can walk independently, his mother has said.

Edward, from Colchester, suffers from spinal muscular atrophy (SMA), which means he is missing a vital protein for muscle development.

He was one of the first children in England to receive the Zolgensma gene therapy, which costs £1.79 million for the one-off treatment, through the NHS in 2021.

Mother Megan said Edward was her “pride and joy” and had reached milestones she never thought possible.

Around 65 babies are born with SMA each year in England. This causes muscle weakness and affects movement and breathing, meaning most babies do not live beyond the age of two without intervention.

Megan said Edward had grown from a lethargic baby to a cheeky, playful boy who was “full of life” and “a real character”.

He may have to use a wheelchair for the rest of his life, but she added: “It doesn’t matter, as long as he’s happy. We’re so proud of him.”

“Edward had to have a double hip replacement in October and is only just getting back on his feet, but overall he is doing very well.

“He’s learning to swim, he can float on his own, which is very difficult for children with SMA because they don’t have natural buoyancy.

“This summer he jumped off a boat into the sea and went jet skiing. He’s a very sweet, sweet little guy.”

Edward has just started school, where he has made many friends, and “does everything an ordinary five-year-old boy does”.

“We just didn’t think it was possible. We didn’t know what quality of life he would have,” she said.

Various doctors and medical professionals visited him whenever he was in the hospital, even when they were not treating him, because they were amazed at his progress, she added.

“They want to see for themselves what gene therapy has done for him.”

The family moved to London so Edward could have physiotherapy up to five times a week.

Ms Willis gave up her job in events management to care for Edward full-time.

It was uncertain whether he would receive the drug on the NHS, so she launched a fundraising campaign and used the money to pay for physiotherapy and specialist equipment, to which she credits his progress.

“We raised £170,000 over five years, but that money has almost disappeared. It has been put to good use,” she said.

“It’s allowed us to save as a family, not have to worry about money. We’re fundraising again now because all the progress he’s made is due to private care.”

Zolgensma is considered the most expensive drug in the world, although NHS England said it had negotiated an undisclosed discount on its list price of £1.79 million.

Edward, who was diagnosed at two months old, was receiving another medication called Spinraza, which involves regular injections into the spine for life, compared to a single injection of Zolgensma.

Because it is a new drug, long-term results are not known, but Megan said she thinks this generation of babies with SMA will be the first to reach adulthood.

Professor James Palmer, medical director of specialist commissions at NHS England, said: “It is a huge pleasure to see the remarkable benefits that this innovative gene therapy has brought to Edward since he was treated four years ago.

“Edward is one of more than 150 children with SMA to benefit from this unique treatment that has had a huge impact on their lives, and I am hopeful that many other conditions like SMA will also become treatable in the years to come as medical advances continue apace.”