Essex baby given £1.79m drug for spinal muscular atrophy

A baby with a fatal condition has received the world's most expensive drug after a campaign by his parents.

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

He received the new gene therapy Zolgensma, which costs £1.79m, at Sheffield Children's Hospital.

His mother Megan Willis said it was "incredible" and she was "so excited and relieved".

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

Ms Willis, 29, said she was so thankful her son had been granted the drug, which contains a replica of the missing gene SMN1.

The family previously said they felt abandoned in their "race against time" for Edward to receive the drug, which must be given as early as possible.

When it was approved for NHS use in March, guidelines said it should only be used for babies under six months old who were not already being treated.

Decisions on babies outside of these parameters, like Edward, would be taken on a case-by-case basis, the guidelines said.

Ms Willis said it was "so stressful knowing there was a wonder drug out there" but they could not get hold of it.

They had tried to raise the money privately and had started to organise a protest before it was granted.

"For so long we have been trying to fight for this drug. I think I am in shock, I can't believe the day is here," she said.

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

None of the treatments available offer a cure for the condition.

In studies, Zolgensma has helped babies breathe without a ventilator, sit up on their own and crawl and walk after a single treatment.

Dr Min Ong, paediatric neurology consultant at Sheffield Children's Hospital, said Edward was the fifth child the hospital had treated with the drug.

"It is anticipated to help his motor skills... particularly the use of his hands and he has the potential to be able to sit unsupported and even stand or perhaps walk," she said.

"It is very exciting because SMA is the most common genetic condition that causes infant deaths and severe disabilities worldwide and we are very thankful to be able to deliver this therapy."

Edward, who was diagnosed at two months old, was receiving injections of another drug called Spinraza every four months.

Spinraza helps slow degeneration but it involves regular injections in the spine for life, compared to the one-off injection of Zolgensma.

Ms Willis said she felt like her family had been "reborn" following the treatment.

"Edward has got a very bright future ahead of him. He is the perfect baby and he's a very happy little boy," she said.

"I feel like the first year of his life has been robbed from us, but he is one next month and we can move on as a family, now that we know he is having the very best treatment."

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