Colchester boy given £1.8m drug has new lease of life

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

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

He was one of the first children to live in England. gene therapy Zolgensma was given, This will cost £1.79 million for one-off treatment through the NHS in 2021.

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

Approximately 65 babies are born with this disease SMA every year in England. It causes muscle weakness and affects movement and breathing; This means that most babies do not live past 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 had “real character”.

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

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

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

“This summer he jumped off a boat and rode a jet ski. He’s such a sweet, cuddly little guy.”

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

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

He added that various doctors and medical professionals visited him while he was in the hospital, even when they were not treating him, because they were amazed at his progress.

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

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

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

It wasn’t clear he would get the medicine from the NHS, so he started a fundraising campaign and used the money to pay for specialist physiotherapy and equipment that he believed would advance his life.

“We raised £170,000 in five years but that money has almost run out. It’s been put to very good use,” he said.

“He saved us as a family from not having to worry about money. Now we’re fundraising again because all the progress he’s made has been thanks to special care.”

Zolgensma is thought to be the most expensive drug in the world, but NHS England said it had negotiated an undisclosed discount on its £1.79 million list price.

Edward, who was diagnosed at two months old, was taking another medication called Spinraza, which involves regular spinal injections for life compared to the one-off injection of Zolgensma.

Because it is such a new drug, its long-term results are unknown, but Megan said she believes this generation of babies with SMA will be the first to reach adulthood.

Prof James Palmer, medical director of specialist commissioning at NHS England, said: “It is a great pleasure to see the remarkable benefits this innovative gene therapy has provided Edward since he received treatment four years ago.

“Edward is one of more than 150 children with SMA who have benefited from this one-time treatment that has made a huge impact on their lives, and I am optimistic that as medical advances continue apace, many more conditions like SMA will become treatable in the coming years.”