'Eureka moment' sees baby Thea diagnosed with rare genetic condition and given a new chance at life.
Specialists did a battery of tests, including on Thea's birth placenta, but Chloe said "nothing came back".Then one day, while scrolling through Facebook, Chloe stumbled upon aThea's parents could not see her until five hours after she was bornWithin a week, Chloe got a call from a specialist genetics team in Cardiff.
"There was a palpable happiness in the lab," said Ms Williams. "[Had we not made the discovery] it's very likely the family would still not know and potentially they'd be coming back to the NHS looking for more and more testing and it might have been a long time before they had an answer."Thea's condition is so rare her mum said she would not have been able to Google it"Perhaps we would never have known what was affecting Thea," Chloe said.
"You can't put any money nor words onto how that must feel for those families, it's an amazing service."There are between 6,000 and 8,000 known genetic diseases, but many people with rare illnesses have to wait a long time for answers as experts try to pinpoint which genes - or parts of the DNA - might be responsible.
But there are moves to expand it to children, suspected of having a rare genetic illness who are well enough to be at home.
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