A couple have shared how genomics research changed their son’s life and enabled him to undergo 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 wasn’t hitting his milestones as a baby.
He was eventually diagnosed with a very rare condition – thyroid hormone resistance due to a faulty Alpha thyroid receptor – at the age of four after participating in the 100,000 Genome Project.
This work program has enabled faster diagnoses and is changing the face of healthcare by reading the DNA of tens of thousands of people.
Mr Everitt, a civil engineer, and Ms Everitt, who has her own business, Positive Futures WY, which helps people with autism and learning disabilities find jobs, live with Owen in Ackworth, West Yorkshire.
Owen’s condition, caused by a genetic defect, affects how cells in his body use the hormone thyroxine, which plays a role in digestion, heart and muscle function, brain development and the health of bone.
Thanks to the 100,000 Genomes Project, Owen can now take thyroxine tablets and his health has improved a lot.
The Everitts first worried about Owen when he was a baby, but their worries grew when he was one year old and he couldn’t sit up properly, had no words and couldn’t crawl or walk. not.
Ms Everitt told the PA news agency: ‘At the age of one we had real concerns. Besides not hitting milestones, he had bad reflux, bad constipation, absolutely no energy and he was pale and sleepy all the time.
The couple took Owen to the GP more than a dozen times, but felt cheated by the answers.
Even after being referred to a specialist, Mr Everitt said they faced ‘the hurdle of people really not knowing what the answer is’.
He said: “Because you have different symptoms, you sort of start with one specialist, they do tests, and then you’re referred to another specialist.”
For several years, the couple consulted with various health experts, including gastroenterologists, hematologists and neurologists.
Ms Everitt said: ‘It was really stressful because if you had never hurt yourself before, we thought you had seen a consultant and you would get a result, and that was sorted. But we would go back again and again.
Owen’s diagnosis wasn’t discovered until he was being investigated for another condition, a rare anemia.
A consultant offers him to participate in the 100,000 genomes project in the hope of finding a definitive answer.
After an anxious two-year wait, the family was called back to be told scientists had found something in Owen’s DNA that pointed to a problem with his thyroid receptors.
Only six people in the UK have been diagnosed with Owen’s disease, with only around 30 cases reported worldwide.
Ms Everitt said: ‘What they told us, and I’m still moved now, it changed Owen’s life and it changed our lives. We feel incredibly lucky.
Owen’s treatment is simple: he takes just one thyroxine tablet each morning and undergoes regular checkups to look at things like metabolism and bone density.
“His constipation is gone now and he has a lot more energy,” Mr Everitt said.
“His muscle tone has improved a lot, his legs have lengthened and he is a normal height.”
Ms Everitt said the diagnosis of Owen, who is a huge Octonauts fan, had also saved the NHS money.
“Before he was diagnosed, he was taking growth hormones, he was doing a steroid trial, he was having blood transfusions – all before that wonder drug, thyroxine, at around 80 pence a pack,” he said. she declared.
Owen continues to have speech problems and learning difficulties and doctors are unsure what the future holds.
But, Mr Everitt said: ‘He is in regular school, which was a concern when he was little, if he could go. Sometimes it’s a struggle for him, but he’s holding his own there.
Ms Everitt added: “I am so proud of reading it. I never thought he would read. Hearing him read every night is amazing. Writing is really hard for him, but he has so much energy.
“Not everyone will want to take these screening tests and that’s fine.
“But Owen was not treated until he was four and a half years old. We think, without it, where would he be now?