George Tappenden, aged 11, lives with Spinal Muscular Atrophy Type 2. His mum, Lucy Tappenden, is an active advocate for access to treatment and a trustee with TreatSMA – a charity which is a member of the Newborn Screening Alliance. Lucy describes George’s diagnosis journey and highlights why Newborn Screening for SMA is so important.
George’s diagnosis was traumatic. My concerns were not heard for months by his GP or his Health workers, nobody would take my concerns seriously and in the end I paid privately to have him seen in London. After many invasive and unneeded tests, he was officially diagnosed with SMA Type 2 when he was just one year old, shortly after the Christmas 2011. We were sent home with no hope or treatment.
If the UK, had newborn screening for SMA been in place when George was born, we could have avoided this distressing diagnosis experience, which was probably the worst part of our SMA journey so far.
George’s deterioration happened quickly. Before he was two, he lost the ability crawl, then soon he couldn’t get in a crawling position at all and so it went on. This was absolutely devastating to watch, and I would not wish it on any parent or individual.
His equipment became more supportive, headrests came in, foot supports, cups with straws, all of which cost money. The more bespoke, the more supportive, the more expensive.
It was not just George’s mobility that was in rapid decline, he would constantly get chest infections as his respiratory muscles became weaker. His school attendance was poor, he rarely attended parties or had play dates due the fear of him getting ill. This also impacted his sister who is just 11 months older than George. Her restrictions became very similar to her brother’s because we could not risk her bringing a cough or a cold back home due to the risks to George’s health. I felt incredibly guilty about putting these limitations on her life, and about the pressures she faced as a young carer. Due to the constant chest infections, George had a video fluoroscopy which revealed he was aspirating on fluids as his swallow muscles became weaker. He was sent home with thickening powder and a referral to a dietician, another traumatic symptom of the disease progression.
George was on the cusp of losing the ability to get into a seated position and was beginning to struggle to eat safely when fortunately, we were able to access Risdiplam, a once a day oral medication that treats SMA, through a clinical trial.
There was one moment when I realised that George’s condition had turned a huge corner on one of our regular annual reviews at Great Ormond St Hospital.
They would usually measure his deterioration, but instead of decreasing, his scores were actually going up, which was just incredible. Before, he was losing the 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. If you’d told me at the time of diagnosis that George would now be a talented drummer, I wouldn’t have believed it, but with Risdiplam and his amazing determination, he has made it happen.
Just knowing that the condition if anything is stabilised, even without the gains, is amazing in itself. This treatment gives him independence, it gives him choices and it gives him a future that he can look forward to.
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, when he does something he hasn’t done before, he looks at me, 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.
George has changed my life and the way I think about what matters for my family. I am so proud of my children and wouldn’t change them for the world. But when I hear of families today still struggling to be heard and get a diagnosis while the clock ticks away, it makes me angry. Every day matters if their child is to get the best out of treatment.
Newborn screening is a ‘no brainer’. It would mean children like George could get treatment before these distressing symptoms start to appear. Real-world evidence has shown that they would not have to watch the devastating decline but would see their children follow normal developmental patterns.