Genetic research was “the best gift” for our son

When Owen Everitt turned one, his parents Sarah and Robert Everitt from Ackworth in Wakefield noticed he was not meeting any of his developmental milestones. He could not sit up, walk or talk.

Desperate to find out answers for their son, Owen had to undergo several invasive medical procedures including several blood transfusions, a trial of steroids and growth hormone injections, all between the ages of one and four.

Owen’s dad Robert Everitt said: “What makes it doubly difficult is not knowing why, and not really having any answers for why your child is struggling really. It was a really worrying time.”

Owen was entered into the 100,000 Genomes Project (opens in a new tab), a joint project between NHS England and Genomics England, investigating around 85,000 NHS patients with rare diseases or with cancer.

The programme has been helping to speed up diagnoses by mapping people’s individual DNA through whole genome sequencing (WGS), leading to groundbreaking breakthroughs into the role genomics can play in healthcare.

The test, which sequenced Owen’s entire genome, discovered he had a mutation in the Thyroid Hormone Receptor Alpha (THRA) gene, causing Resistance to Thyroid Hormone alpha, a rare condition (found in less than 100 people worldwide) that was present from birth.

The mutation was stopping Owen’s body from responding properly to thyroid hormone, which is essential for growth, brain development, cardiac and gastrointestinal function and normal metabolism.

Owen’s parents said finally getting the diagnosis was a “huge relief” for their family.

Mum Sarah Everiitt said: “All of your hopes and dreams for the future for your child, we thought all of those things wouldn’t happen. When he had the meeting and we knew to some extent Owen’s condition could be treated, it was the best gift. It was amazing.”

His family were referred to see Professor Krishna Chatterjee, consultant endocrinologist at Cambridge University Hospitals, who discovered Resistance to Thyroid Hormone alpha and has a special interest in this and related rare thyroid disorders.

He and his team are treating Owen’s condition with thyroid hormone in higher dosage to overcome tissue resistance – a simple tablet medication which he takes daily.

Professor Chatterjee said: “Resistance to Thyroid Hormone alpha, a form of thyroid underactivity from birth (congenital hypothyroidism or CH), cannot be picked up by measurements in the heel-prick blood spot test which is currently done on all babies after birth to detect CH and other disorders.

“However, genome sequencing, finding mistakes in genes like THRA, provides the possibility of diagnosing this treatable condition, to achieve the best outcome for families and children like Owen.”

Owen, now nine-years old, is making brilliant progress. His growth, metabolic rate and behaviour have improved significantly and his parents remain hopeful for the future.

“Owen is so outgoing now and much more confident,” added Sarah. “His life has changed so much for the better.”

He has regular check-ups twice a year in Cambridge, so doctors can monitor his progress and adjust the dosage of his thyroid medication.

Owen is an example of a child who could have benefitted from the care given at our future Cambridge Children’s Hospital.

The first specialist children’s hospital for the East of England will have its own research institute that will deploy cutting-edge advances in genomic science – particularly whole genome sequencing and gene and cell therapies – to find new treatments and help children and young people across the region and UK.

Owen’s parents went through years of uncertainty, clinic appointments, invasive investigation and different trial treatments, until their son was diagnosed with ‘Resistance to Thyroid Hormone alpha’ at four-and-a-half years old. They say Cambridge Children’s Hospital will be “game-changing.”

Owen's Dad Robert said: "I think the earlier you can start with tailoring medicine and genomic input, the better. Having that string to the bow at Cambridge Children’s Hospital, is going to be great.”