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

A five-year-old boy given the world's most expensive drug as a child has made “incredible progress” and can walk on his own, his mother says.

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 in England to receive considering Zolgensma gene therapy, the one-off treatment will cost £1.79 million through the NHS in 2021.

Meghan's mother said Edward was her “pride and joy” and that he achieved milestones she never thought possible.

About 65 children are born with SMA in England every year. It causes muscle weakness and affects movement and breathing, meaning most children do not survive beyond the age of two without intervention.

Meghan said Edward had transformed from a lethargic child into 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 are so proud of him.”

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

“He’s learning to swim, he can swim 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 rode a jet ski. He's a very sweet, sweet little guy.”

Edward has just started school, where he has made many friends, and “does everything a normal 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 has moved to London, so Edward can undergo physiotherapy up to five times a week.

Ms. Willis left her event management job to care for Edward full-time.

It wasn't certain he would receive the drug from the NHS, so she started a fundraising campaign and used the money to pay for specialist physiotherapy equipment and facilities, which she attributes to his success.

“We raised £170,000 in five years, but that money is almost gone. They were put to good use,” she said.

“It saved us as a family and we didn't have to worry about money. We are now fundraising again because all the progress he has made has been through private care.”

Zolgensma is believed to be the most expensive drug in the world, although England's National Health Service said it had negotiated an undisclosed discount from the list price of £1.79 million.

Edward, who was diagnosed at two months, was treated with a different drug called Spinraza, which involves regular spinal injections for life, rather than a one-time injection of Zolgensma.

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

Professor James Palmer, Medical Director for Specialized Commissioning at NHS England, said: “It is a great pleasure to see the remarkable benefits 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 who have benefited from this one-time treatment, which has had a huge impact on their lives, and I am optimistic that many other conditions such as SMA will also become treatable in the coming years as medical advances continue.”