Baby boy with rare genetic condition can now smile thanks to £1.8m drug

A baby boy suffering from a rare genetic condition whose life was saved by a £1.8 million drug – one of the most expensive in the world – is now able to talk, smile, sing nursery rhymes and even blow kisses.

Harry Hughes was given the lifesaving treatment when he was six months old after being born with the serious genetic disorder, type 1 spinal muscular atrophy (SMA).

A rare and fatal condition that causes respiratory problems, paralysis, muscle weakness it also leads to progressive loss of movement.

If he had not received the infusion of Zolgensma gene therapy which replaced the SMN1 gene that Harry lacked, he might never have lived to see his first birthday.

But now aged two Harry, says mum Katie, is “able to do absolutely loads more than more than before”.

Speaking at the family home in New Milton which she shares with husband Darren, she said: “Harry surprises us every day with something new. He can make every animal noises, even roaring like a lion.

“He never stops smiling, waves 'hello', says ‘mama’ and ‘dada’ and he loves singing.

“He can sing along to’ Wheels on the Bus’ and ‘Heads, Shoulders, Knees and Toes’ – and do all the actions. He is just amazing.”

Katie says Harry, who received his pioneering treatment at hospital when he was just six months old, also enjoys reading and his favourite TV show is Blues Clues.

She said: “He screams with delight when that is on. He can roll over on his own and his head control is becoming really good now.

"Before the treatment he could not move his legs at all, but now he loves swimming and is really good in the water.

“He used to be fed by a nasal tube but now has a stomach peg – but is just starting to have yoghurt from a spoon which he really enjoys.

“The doctors are really delighted with his progress.”

Katie said celebrating Harry’s second birthday was “even better” than his first: “I think it really hit home that without the treatment he might not even have survived that long and now here he was opening all his own presents.”

But despite his remarkable progress there have been setbacks along the way. Last Christmas was spent in hospital, just like Harry’s first was, after he went down with flu which developed into pneumonia.

Katie said: “We were really hoping that we were going to have our first Christmas at home with Harry, but it wasn’t to be. He ended up with a collapsed lung and didn’t leave hospital until mid-January.

"He has had two chest infections since and chicken pox!

“He is on steroids and other medication, and is on a ventilator at night as well as other medical equipment. Hospital appointments are endless. But we are so grateful to all the medical staff who help care for Harry.”

Katie still keeps in touch with other parents around the world whose children have the same genetic problem as Harry and says she knows “just how very lucky we are that he got the treatment”.

She said: “It is so vital that SMA is diagnosed early. I want the government to bring in screening for it for all newborns. The earlier Zolgensma is given, the better the chances are for the child.

“It should be routine. Harry was diagnosed because my mother’s instinct told me something wrong, but I really had to fight to be taken seriously, by which time the disease had already caused a lot of damage and loss of vital muscle skills.

“It should not have to be that way now that there are other treatments available.”

Katie is documenting Harry’s progress on an Instagram page https://www.instagram.com/high.hopes.for.haribos/.