A mother from Hertfordshire has revealed how her concerns for her newborn son were initially dismissed, with her being labelled a "pushy mum", before he was diagnosed with the same rare genetic condition affecting former Little Mix star Jesy Nelson's twin daughters.
Early Signs Dismissed by GP
Charlie Mosey, 38, and her husband George, 41, welcomed their son Rupert on 29 March 2021. While he appeared healthy at birth, within weeks Charlie noticed he was struggling. Rupert didn't enjoy tummy time and wasn't lifting his legs to help with reflux. By six weeks old, Charlie described him as being "like a potato".
However, when she voiced her worries to their GP, she was dismissed. "I was told I was a pushy mum, who just wanted my son to move before he was ready," Charlie stated. The parents grew increasingly anxious as Rupert deteriorated rapidly and stopped eating well.
A Race Against Time for Diagnosis and Treatment
The situation reached a crisis point on 19 May 2021, when Rupert's breathing became shallow. Rushed to hospital, he was stabilised, and subsequent tests confirmed he had spinal muscular atrophy (SMA) type one, a condition causing progressive muscle weakness.
The prognosis was devastating. "Doctors told us to get as many of the family to meet him as possible, because he wouldn't live past seven months old," Charlie revealed.
At just two months old, Rupert began groundbreaking treatment. He received the gene therapy drug Zolgensma. Furthermore, his family spent two years travelling to Milan, Italy, for a clinical trial involving lumbar puncture treatments. Thanks to a special exemption, he now continues to receive an injection every four months to minimise muscle loss.
Defying Expectations and Building a Full Life
Rupert's story is one of remarkable defiance. Combined with strenuous daily physio, the treatments have helped him build crucial strength. Now four years old, Rupert can sit up, take 15 to 20 steps with ankle orthotics, and is a strong swimmer. He also loves singing.
"He's doing so well," said Charlie, who is a VP for a tech company in St Albans. "We were told he'd never sit, let alone walk. He's incredible. We never imagined he'd been doing this well."
The family has adapted, finding joy in activities like swimming where Rupert excels. "Whilst he can't walk on land in the same way a typical child can – he's a better swimmer than most of his peers," Charlie noted.
Following Rupert's diagnosis, Charlie was able to get her two other children—Wilf, two, and Arabella, thirteen weeks—tested for SMA, though she notes this is not standard NHS practice. She is now a passionate advocate for newborn screening to identify if parents carry the SMA gene.
Charlie also hopes her family's experience offers hope to Jesy Nelson and others facing the same diagnosis. "We've learnt to really enjoy the small wins," she expressed. "I do hope this can give her and many others some light at the end of the tunnel."
