Introduction to Edward’s Story

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 said. Edward suffers from spinal muscular atrophy (SMA), which means he is missing a protein vital to building muscle.

Edward’s Diagnosis and Treatment

He was one of the first children in England given the gene therapy Zolgensma. The one-off treatment costs the NHS £1.79 million. Edward was diagnosed at two months old and was initially given a different medication called Spinraza, which involves lifelong regular injections into the spine compared to a single injection of Zolgensma.

Progress and Milestones

Mum said Edward was her "pride and joy" and he had achieved milestones she never thought possible. He can now walk 20 to 30 steps independently. Edward had 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 really difficult for children with SMA because they don’t have natural buoyancy.

Life with SMA

Around 65 babies are born with SMA in England every year. It causes muscle weakness and affects movement and breathing, meaning most babies don’t live past two years without intervention. Edward may have to use a wheelchair for the rest of his life, but his mother added: "It doesn’t matter as long as he’s happy. We’re so proud of him."

Family and Support

The family moved to London so Edward could receive physiotherapy up to five times a week. His mother quit her job in events management to care for Edward full-time. She launched a fundraising campaign and used the money to pay for specialist physiotherapy and equipment, which she credits for his progress. They raised £170,000 over five years but the money is almost gone.

The Future of SMA Treatment

Zolgensma is considered the world’s most expensive drug, although NHS England said it had negotiated an undisclosed discount on the list price of £1.79 million. Because it is such a new drug, the long-term effects are unknown, but Edward’s mother believes this generation of babies with SMA will be the first to reach adulthood. Prof James Palmer, medical director for specialist commissioning at NHS England, said: “It is a great pleasure to see the remarkable benefits this innovative gene therapy has brought to Edward since his treatment four years ago.” Edward is one of more than 150 children with SMA who will benefit from this unique treatment, which has had a huge impact on their lives.