Hampshire baby given 'game-changing' £1.8M drug has 'second chance' at life

  • Watch the report by ITV Meridian's Rachel Hepworth

A baby from Hampshire who was born with a rare genetic illness has been given a second chance of life, after being treated with one of the world's most expensive drugs.

Harry Hughes was born with severe Type One Spinal Muscular Atrophy which is a rare condition that causes breathing issues, muscular weakness and progressive paralysis.

Without treatment, babies with Type One SMA are unlikely to live for more than two years.

Harry was born after three rounds of IVF and his mum Katie Hughes, from New Milton, said she knew early on that something wasn't right.

She said: "I just had that gut churning feeling and I couldn't shake it, and I knew that it wasn't something minor, I knew there was a major problem. Being a first-time mum, you're asking other people as well. I spoke to my mum and my husband about it and we all came to the conclusion that there was probably something that needed to be looked into."

"I just saw 'die by two'. And that was heartbreaking waiting for that confirmation and that appointment seemed like a lifetime."

Harry was eventually diagnosed with SMA, after his parents spent weeks of persuading medics that he wasn't developing as he should.

The £1.8M drug, Zolgensma, became available on the NHS last year

Last year, a revolutionary drug, Zolgensma, became available on the NHS.

The one-off gene therapy is one of the world's most expensive drug, costing around £1.8 million.

Nine weeks ago, Harry could barely move his arms and legs and needed a machine to help him breathe. He was given the drug, which replaced the faulty gene and his parents have said it's already working, with Harry's arms and legs strengthening by the day.

Katie said: "We just couldn't believe Harry was getting such an expensive drug."

"It came in a big syringe, it got put into a syringe driver. It got hooked up to Harry via his cannulas and then for one hour, it dripped into Harry. We just stood around watching and waiting for the hour to go. My husband was in tears. I was nearly in tears because we were just so thankful that he was getting it."

  • Katie Hughes, Harry's mother

The family have charted his journey in videos which have been watched thousands of times online. Their aim is to raise awareness of SMA because the quicker babies are diagnosed and treated, the better the prognosis is.

Katie said the drug has given Harry a "second chance" and so the family are now calling for the newborn screening panel to do the heel tests.

She said: "I wouldn't even imagine where we would be without this drug. The fact that he's not going to die by two is a massive game changer in itself."

"If we found out when how he was two weeks old, he would have got that drug a lot sooner."

While the drug is not a cure, it's a vital step in giving children like Harry, a second chance.