couple have told how genomics research has changed their son’s life and enabled him to have treatment with a common drug that costs pennies.
Sarah and Rob Everitt, both 42, spent years trying to get a diagnosis for their son, Owen, now nine, after noticing he was not hitting his milestones as a baby.
He was eventually diagnosed with a very rare condition – resistance to thyroid hormone due to defective thyroid receptor Alpha – when he was four after taking part in the 100,000 Genomes Project.
This programme of work has enabled quicker diagnoses and is changing the face of healthcare by reading the DNA of tens of thousands of people.
Mr Everitt, a civil engineer, and Mrs Everitt, who has her own business, Positive Futures WY, which helps people with autism and learning disabilities into employment, live with Owen in Ackworth, West Yorkshire.
Owen’s condition, caused by a genetic fault, affects how the cells throughout his body use the hormone thyroxine, which plays a role in digestion, heart and muscle function, brain development and bone health.
Thanks to the 100,000 Genomes Project, Owen can now take thyroxine tablets and his health is much improved.
The Everitts first became worried about Owen when he was a baby but their concerns grew when he was one and he could not sit up properly, had no words and was not crawling or walking.
Mrs Everitt told the PA news agency: “At age one, we had real concerns. As well as not hitting milestones, he had bad reflux, bad constipation, absolutely no energy and he was pale and would just fall asleep all the time.”
The couple took Owen to the GP more than a dozen times but felt fobbed off by the answers.
Even after they were referred to a specialist, Mr Everitt said they faced the “hurdle of people genuinely not knowing what the answer is”.
He said: “Because you have various different symptoms, you kind of you start off with one specialist, they run some tests, and then you get referred to another specialist.”
For several years, the couple saw a range of health experts, including gastroenterologists, haematologists and neurologists.
Mrs Everitt said: “It was really stressful because if you’ve never been poorly yourself before, we thought you saw a consultant and you’d get an outcome, and that was sorted. But we were going back again and back again.”
Owen’s diagnosis was only discovered when he was being investigated for another condition, a rare anaemia.
A consultant suggested he take part in the 100,000 Genomes Project in the hope of finding a definitive answer.
What they told us, and I get emotional still now, it changed Owen’s life and it changed our lives. We feel so incredibly lucky
After an anxious two-year wait, the family were recalled to be told scientists had found something in Owen’s DNA that indicated a problem with his thyroid receptors.
Only six people in the UK have been diagnosed with Owen’s condition, with only around 30 cases reported worldwide.
Mrs Everitt said: “What they told us, and I get emotional still now, it changed Owen’s life and it changed our lives. We feel so incredibly lucky.”
Owen’s treatment is simple – he just takes a thyroxine tablet every morning and has regular check-ups to look at things like metabolism and bone density.
“His constipation has gone away now and he has a lot more energy,” Mr Everitt said.
“His muscle tone is much improved, his legs have got longer and he’s normal height.”
Mrs Everitt said getting a diagnosis for Owen, who is a massive Octonauts fan, had also saved the NHS money.
“Before he was diagnosed, he was on growth hormones, he was on a steroid trial, he had blood transfusions – all this before this wonder drug, thyroxine, at about 80p a pack,” she said.
Owen continues to have some speech problems and learning difficulties and medics are unsure exactly what the future holds.
But, Mr Everitt said: “He’s in mainstream school, which had been a concern when he was little, whether he would be able to go. Sometimes it’s a struggle for him but he holds his own there.”
Mrs Everitt added: “I’m so proud of his reading. I never thought he’d read. To hear him reading every night is amazing. Writing is really hard for him, but he’s got so much energy.
“Not everybody will want to have these screening tests and that’s fine.
“But Owen didn’t get treatment until he was four and a half. We think, without it, where would he be now?”