"My baby has same rare condition as Jesy Nelson's twins - docs called me pushy" | SWNS скачать в хорошем качестве

"My baby has same rare condition as Jesy Nelson's twins - docs called me pushy" | SWNS

A mum was told she was a "pushy" parent before her son was diagnosed with the same rare genetic condition as Jesy Nelson's twins. Charlie Mosey, 38, was told her newborn Rupert Mosey, now four, was a "healthy" baby before he started struggling to lift his head. Charlie and dad George, 41, noticed he didn't like tummy time and wasn't lifting his legs to relieve his reflux. But their GP told Charlie was a "pushy mum" when she expressed concern. They were finally able to see a neurologist and Rupert was diagnosed with spinal muscular atrophy (SMA) at two months - a condition causing muscle degeneration. He received the gene therapy drug Zolgensma and spent two years on a clinical trial for lumbar puncture treatment in Milan, Italy. He now continues to receive an injection every four months to help reduce his muscle wastage. Rupert is now able to walk 15 to 20 steps with his ankle orthotics and has taken to swimming. Former Little Mix star Jesy Nelson has revealed her twin daughters were diagnosed with the condition and told they may never walk. Charlie, VP of customer success for a tech company, from St Albans, Hertfordshire, said: "He's doing so well. "He can take about 15 to 20 steps in ankle orthotics. "We were told he’d never sit, let alone walk. "He's incredible. We never imagined he’d been doing this well." Rupert was born on March 29, 2021 and was seemingly healthy. But after a fortnight he seemed to be getting physically weaker and by six weeks Charlie said he was "like a potato". His GP wasn't concerned but Rupert's parents saw him "deteriorating fast" and got increasingly worried when the tot stopped eating too. Charlie said: "I was told I was a pushy mum, who just wanted my son to move before he was ready." On May 19, 2021, Rupert's breathing became shallow "like he had given up" - and the tot was rushed to hospital. Luckily he was stabilised, but blood tests that followed confirmed he had SMA type one. Charlie said: "Doctors told us to get as many of the family to meet him as possible, because he wouldn't live past seven months old." The treatments Rupert was able to receive and gruelling daily physical exercises have helped him to build his muscles and maintain as much strength as possible. A special exemption after the clinical trial in Italy has allowed him to continue receiving injections. Rupert can now sit up, walk a few steps with support, is a strong swimming and loves singing. Charlie said: "It’s a real adjustment. "We've learnt that there are so many hobbies that Rupert can get involved with that we never knew existed. "Whilst he can’t walk in land that in the same way a typical child can – he's a better swimmer than most of his peers. Charlie hopes newborn screening can be brought in for all expecting parents to identify if they have SMA. She was able to get testing for her two other children who are not affected - Wilf, two, and Arabella, thirteen weeks old, - because of Rupert but said this is not something the NHS routinely do. Charlie wants to give hope to Jesy and others in her situation. She said: "We've learnt to really enjoy the small wins, rather than sweating the big stuff. "I do hope this can give her and many others some light at the end of the tunnel". Please subscribe for daily viral videos and check out all our social channels here: https://linktr.ee/swns To license this video for editorial or commercial use please contact video@swns.com