First birthday for Harry Hughes who had life-saving £1.8 million Zolgensma injection for type 1 spinal muscular atrophy
WAVING his hands with glee and his face lit up with a beaming smile, Harry Hughes celebrates his first birthday like any other little baby his age.
But it is something his New Milton parents feared would never be possible until he was given lifesaving treatment with one of the world’s most expensive drugs, costing £1.8m for a single injection.
Mum Katie said the improvements in Harry, who celebrated his birthday with a jungle-themed party, have been “absolutely amazing”.
He was born with the serious genetic disorder, type 1 spinal muscular atrophy (SMA): a rare and often fatal condition that causes respiratory issues, paralysis, muscle weakness and progressive loss of movement.
But as the A&T revealed earlier this year, Harry was lucky to receive the one-off Zolgensma gene therapy which replaces the SMN1 gene which children like Harry are missing.
Katie said: “He has responded really well to the treatment. He can sit up on his own supported by cushions and uses his arms really well now.
"He loves playing with his toys, especially his baby gym, and absolutely loves a bubble bath.
“But his favourite game is taking my glasses off!
“He can also say ‘Mama’ and ‘Dada'. His first word was ‘Dada’ which he said about a month ago. It was a really emotional moment for my husband Darren when he heard that.
“It is just wonderful to hear Harry speak when we originally thought that he may never talk at all.”
Harry received his pioneering treatment in November. Mum Katie had soon realised there was something wrong with Harry, who was born after three rounds of IVF, but faced a battle to have him diagnosed.
Once his condition was confirmed, Harry’s parents faced another struggle to get him the revolutionary treatment which became available in the UK only last May.
Katie said: “We are so grateful he did get it. We still have regular hospital appointments where I sometimes see other babies with SMA who are very seriously ill, that really brings it home just how lucky we are. But we still face a long road ahead.
“Harry is fed by a nasal tube but that will be replaced by a stomach peg. He has a cough-assist machine to help him cough, a suction machine to help with secretions, and he uses a bipap ventilator throughout the night to support his breathing.
"But he’s a very healthy weight and he’s really long! He’s such a happy baby, smiling all the time.”
Harry even managed to overcome Covid.
Katie said: “It was terrifying, but he came through it and, to be honest, I am glad we have crossed that bridge. It is important to build up his immune system. He has had various viruses but has battled them all.”
She said the family receive “fantastic” treatment from the NHS but have set up a fundraising website as there are still things Harry needs such as regular physiotherapy sessions, and they also hope to convert their garage into a therapy room.
His parents are also very keen to raise awareness of SMA and want it to be screened for as part of the new-born tests given to every baby.
Katie said: “I am in a WhatsApp group and the stories of babies diagnosed with SMA are very similar to ours – parents concerns not listened to, testing late when its vital gene therapy is given as soon as possible.”
As Harry reaches for her glasses again Katie gives him a huge kiss, saying: “This last year has been really hard, but we are so grateful to have him. We love going out as a family, taking him for walks which he loves. He just enjoys looking around at all the different things."