A 33-year-old mum from Cardiff will be running the 2025 Oysho Cardiff Half Marathon to raise awareness of her daughter’s rare genetic condition.
Becky Lewis’ daughter, Ella, is the only person in Wales to have Schaaf-Yang syndrome (SYS) – a rare genetic disorder that affects aspects of development.
When Ella was born in June 2020 she spent a lot of time in hospital having tests. It wasn’t until mid-December that she was finally able to come home for the first time.
Becky said: “Everything was fine during my pregnancy but then Ella came early at 29 weeks. Initially there wasn’t any indication that anything was wrong. Her lungs were checked, and they seemed to be fine, but she was ventilated as she was premature.
“When the doctors went to take her off the ventilation they couldn’t understand why Ella wasn’t quite coping. They thought that if her lungs were fine, maybe it was something to do with her brain.
“It was horrific to hear there might be something wrong. It was a really difficult time, particularly as this was all happening during Covid and none of our family could come in to visit.”
Ella started having tests to work out what was happening. Doctors discovered a mutation of the MAGEL2 gene on chromosome 15q11-13 and she was diagnosed with SYS when she was three months old.
Becky said: “When doctors started speaking about genetics, we thought it was impossible. There wasn’t anything on my or my husband John’s side and we didn’t understand where it could come from. At the time of her diagnosis there was only 140 people who had been diagnosed with the syndrome around the world, and she was the only person in Wales.”
She added: “There’s different severities of the syndrome. Sadly, some who have it don’t make it past birth or need a lot of care or there are other’s that have mild symptoms where the child can walk, talk and eat but might have a bit of autism.
“With Ella’s mutation she’s in the middle and has a bit of everything. It means she has developmental delay and doesn’t walk or talk and is fed via a PEG. It’s not a progressive condition so all we can do is help Ella be the best version of herself and promote what she’s able to do and encourage her to do more.”
The family take each day as it comes and Becky, who worked in Welsh Government, has taken a career break to look after Ella.
Becky said: “Ella’s been doing really well and thankfully we haven’t had any hospital admissions with her over the past two years.
“She’s such a little character and is very chatty. She loves to blow bubbles and does what she wants, when she wants. She can stand and bear her own weight but when she’s had enough, she won’t do any more.
“We hope she might get to walk in the future, but all we can do is help promote her development and help her make that link in her mind. We know she has the strength and capability but she’s had a tough little life so far so we want to do what we can to make sure she enjoys it.”
Becky will now be taking on the Oysho Cardiff Half Marathon on Sunday 5 October to raise money to help support more research into SYS as well as equipment for Ella’s physiotherapy clinic.
Becky said: “My husband John does a lot of tasks and challenges around the 180 days Ella spent in hospital and every year we hold a party and an auction to raise money, but this year I wanted to run the Cardiff Half.
“This will be my first half marathon and I’m looking forward to getting out and completing it.”
Matt Newman, Chief Executive at event organisers Run 4 Wales, added: “Becky, Ella and her family have all been through a tough time but what a fantastic challenge Becky is taking on to raise more awareness of Schaaf-Yang syndrome. We hope Becky enjoys taking part in her first half marathon right here in her home city and we’re very much looking forward to cheering her around the course.”
