A “life-changing” new spinal muscular atrophy drug has let one 10-year-old play again and given him a new lease on life.
George Tappenden suffers from spinal muscular atrophy, a condition which progressively weakens his muscles.
However, after he got on a trial for risidplam, his life changed immeasurably as he gained back his independence and could do things he once could only dream of.
And now, since last November, the drug is available on the NHS, meaning his story will precede that of countless children whose lives will be changed for better by it.
George’s mum, Lucy Frost, said her “greatest fear as a mother” was being told she would lose her child, and hearing that there was no treatment and what would happen to his body over time.
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Due to the progressive nature of the condition, Lucy along with her husband Anthony, 42, and brilliant big sister Evie, 11, all from Tunbridge Wells, were forced to watch as George’s condition worsened from his diagnosis at one, to starting treatment aged six.
George always had the love and support around him to do what he wanted, but the condition robbed him of his independence and forced him to rely on others.
Lucy said: “He was always a really happy, very go-lucky, articulate and bright boy, all that missed was the independence for him to achieve what he wanted to achieve.
“George loves to draw, he loves lego and before treatment he was losing the strength to push the bricks together.”
On top of that, due to the muscle deterioration he relied on a machine to help him cough, but lacked the strength to turn it on and put the mask on himself.
George was diagnosed aged one, after a process Lucy described as “traumatic” and was “probably the worst” period of George’s condition.
Again and again she wasn’t taken seriously by hospitals and health workers, and her concerns were dismissed out of hand.
In the end, she decided to go private as a last-gasp effort to have her worries listened to.
The doctor took one look at George and told her to take him to A&E.
She said: “My heart dropped and I felt like I couldn’t breathe. I rushed him to my local A&E. They admitted him overnight and he went through every type of test, you name it, he had it.
“But what they didn’t test for was SMA. They then wanted George to go home as an outpatient with a possible diagnosis of arthritis.
“I refused to give up the bed and be an outpatient, and after quite heated discussions they gave me a day trip to St Ormond Street Hospital to see a consultant there.
“That consultant, Dr Manzua, who he still sees, straight away decided to test him for SMA.
“Then, two weeks before Christmas, we were told he had spinal muscular atrophy type two.”
In 2019, his family came across risdiplam trials being run across Europe and were able to get George onto the ones run in Paris.
Since then, George’s health has taken huge leaps forward because of the treatment which, since last November, was available on the NHS.
One big moment when Lucy realised that her son’s condition had turned a huge corner was on one of their regular annual reviews at Great Ormond St Hospital.
She said: “They would usually measure his deterioration, but instead of decreasing, his scores were actually going up which was just incredible.
“Also his lung capacity, which he had been losing a percentage every single year, shot up like an extra 20 to 30 per cent.”
Lucy added: “He’s now learning to play the drums, which he couldn’t dream of doing prior to treatment.
“Before he was losing strength to push Lego bricks together but now he can do it on his own.
“There are other things, like his cough assistance machine, he now has the strength to turn it on himself and put the mask to his face.
“And just knowing that the condition if anything is stabilised, even without the gains, just stabilised is amazing in itself.
“This treatment gives him independence. It gives him choices.”
George’s quality of life was always good because of the support he had from his family and those close to him, but being on the drug has changed his life.
Lucy said: “The drug is a game changer. To see my son doing things that I thought were impossible for him is just amazing.
“To see the smile on his face as he now does it is amazing. Like when he does something he hasn’t done before he looks at me and smiles and says ‘did you see that?’ for me that’s just priceless.
“And it doesn’t matter how small it is, for George it’s everything.”
