My son was given world's most expensive gene therapy drug

According to his mother, a five-year-old boy who was given the world's most expensive drug as a baby has made incredible strides and can walk independently. Edward, a Colchester man, has spinal muscular atrophy (SMA), which means he lacks a protein that is essential for muscle growth. He was one of England's first children to be offered the gene therapy Zolgensma, which costs £1. In 2021, the NHS paid 79 million for the one-off treatment. Edward was her pride and joy and she had reached milestones she never imagined possible, according to mother Megan.

Each year, approximately 65 babies are born in SMAin England. It causes muscle weakness and breathing problems, which means that most babies do not live beyond the age of two without intervention. Edward went from being lethargic as a baby to a cheeky, playful boy, who was full of life and a true character, Megan said. He may have to use a wheelchair for the remainder of his life, but she said, "It doesn't matter, as long as he is happy. We are so proud of him.

Edward had to have a double hip replacement in October, and he's only just getting back to his feet, but in general, he is doing well.

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

He jumped off a boat into the sea and he went on a jet ski this summer. He's a very sweet, loveable little guy. Edward is just starting school, where he has made a lot of friends, and

does everything an average five-year-old boy does. We just didn't think that was possible.We didn't know what kind of life he'd have,

she said. Multiple physicians and medical professionals visited him whenever he was in hospital, even when they weren't treating him because they were amazed by his growth, she said.

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

Edward can now have physiotherapy up to five times a week, so the family has moved to London. Ms Willis left her career in event planning to Edward's full time. It was not certain that he'd get the drug on the NHS, so she launched a fundraising campaign and has used the funds to pay for specialist physiology and equipment, which she attributes to his progress.

We raised £170,000 over five years in five years, but the funds have almost disappeared. It's been put to a lot of good use,

she said. "It has saved us as a family, not having to worry about the money. We're raising money again now because most of the changes he has made has been due to private care.

Zolgensma is thought to be the world's most expensive drug, but NHS England reported that it had negotiated an undisclosed discount on its £1. 79m list price. Compared to a one-off injection of Zolgensma, Edward, who was diagnosed at two months old, was receiving Spinraza, which requires regular spinal injections for life. Megan said this generation of babies with SMA will be the first to reach adulthood because it is such a new drug.

Prof James Palmer, the NHS England medical director, expressed delight in seeing the dramatic benefits that this pioneering gene therapy has given Edward since he was first diagnosed four years ago. "Edward is one of more than 150 children with SMA who has had a dramatic effect on their lives, and I'm hopeful that many more conditions related to SMA will become treatable over the next decade as medical advances continue to progress.

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