A dozen of babies with rare and serious illnesses have been given new hope of survival since Wales became the first to offer genetic testing.
Children and babies who are in critical condition in hospital can be possibly considered for a test that reads the entire code of their DNA!
It has led to a diagnosis in 40% of cases, experts said, and a “great leap forward” in their treatment.
Baby Thea shortly after birth turned blue and had to be rushed to a special care unit in Wrexham Maelor Hospital and then onto Alder Hey Hospital located in Liverpool for more intensive care.
Thea’s mum had to wait 5 hours for them to be able to stabilize her baby and then she was allowed to see her, which was an awful experience due to her daughter needing a lot of support from machines, Baby Thea’s problem was with her nose and airways.
“She was essentially suffocating,” Chloe said.
image credits: Jesica Montgomery
After a number of operations, Thea was finally well enough to come home. But she was not developing like other babies and at the age of seven months was still sleeping like a newborn.
Specialists did a battery of tests, including on Thea’s birth placenta, but Chloe said: “nothing came back”.
“We were just so confused we didn’t know why she was so poorly – there were no answers,” she said.
Thea became eligible for the genetic testing when she was admitted to a hospital due to a major chest infection!
Within a week, Chloe got a call from a specialist genetics team in Cardiff.
“They said they had found something,” she said. “It was an incredible moment it felt like a weight off our shoulders.”
Thea was diagnosed with an EIF5A-related disorder, a condition that was first reported in 2021, thankfully found via genetic testing.
banner and image credits: GoodFocused
