A six-year-old girl was diagnosed with an ultra-rare genetic condition after her mum noticed she was having trouble hearing.
When Lexi Ducker stopped responding to sounds, her mum Joanna took her for tests but it wasn't until two years later that the little girl was diagnosed with Barakat syndrome – a condition known to affect just 200 people in the world.
In addition to causing hearing loss in 96 per cent of people who have the syndrome, it can also lead to kidney problems and low levels of calcium, a mineral needed for strong bones. There is no family history of the condition. None of Lexi’s three older brothers, Daniel, 10, and twins Oliver and Harry, 14, or their wider family are affected.
Mum-of-four Joanna, who is an HR business partner, and her husband James Ducker, 44, a sports journalist, regard their daughter’s diagnosis as a “real positive” given that she is being closely monitored and can receive swift treatment if required. Lexi’s low calcium is already being boosted by taking regular supplements to help keep her healthy.
Joanna Ducker, pictured with Lexi, is running the London Marathon later this month"Lexi, was diagnosed with moderate to severe hearing loss at two and I’ve seen first-hand the obstacles she has overcome and still faces. We first realised there might be a problem when we noticed she wasn’t saying anything or responding to noises like the doorbell. Luckily, she could access sound through hearing aids and was given speech therapy as she was a year behind with her language," Joanna, from Warrington, Cheshire, said.
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"We thought we were all sorted until about 18 months ago when the audiologist rang us to say they had some new genetic tests they could run on a blood sample from Lexi they already had. That confirmed she has Barakat syndrome. For her, it wasn’t inherited, it’s just happened – they call it a spontaneous event.
"There are only a couple of hundred people in the world with the syndrome but there could be a lot more that aren’t diagnosed. For us, knowing is a real positive because Lexi is getting help with her low calcium levels and receiving the appropriate additional health checks she needs."
Cheshire Live reports Lexi attends her local primary school and has proudly showed off her hearing aids to her classmates during a recent show and tell session. Joanna now intends to run her first marathon in London to raise money for the charity Sense, which supports children and adults living with complex disabilities, including those who are deafblind.
The mum added: "Lexi is super-confident. She isn’t fazed by her hearing loss and did a show and tell about her hearing aids at school. But I know not all children with hearing impairments are as lucky as her and I’m keen to support as many people in that position as possible.
"I only discovered a love of running three years ago and, not too long ago, the idea of completing a marathon would have been unthinkable. But then I learned about the charity Sense and it’s given me the motivation to push beyond what I thought I was capable of. Sense’s mission to help people with complex disabilities feel better understood, connected and valued resonated with me deeply."
Joanna will run all 26.2 miles on Sunday 21 April, Lexi and her big brother Daniel, 10, will take part in the Mini London Marathon for children the day before, with Lexi running the final mile to cross the finish line and Daniel taking on the 1.6 mile run for older kids.
Sense’s Head of Events and Community Fundraising, Caroline Buckland, said: “It’s fantastic that Joanna has chosen to support Sense as she runs the London Marathon, so our charity can continue to improve the lives of children and adults with complex disabilities and make sure no-one is left out of life.
“We’re looking forward to cheering her on - and Lexi and her big brother, Daniel, in their Mini London Marathon. It’s going to be a great weekend!”
Joanna has raised close to £3,000 so far for disability charity Sense. You can sponsor her at www.justgiving.com/page/josdoingamarathon
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