Owen, 5, given shot at a ‘fulfilling life’

OWEN Everitt’s life was transformed by the whole genome test.

The five-year-old had spent years having tests and procedures to understand why was not growing and was unable to walk or talk properly.

They included steroid trials, blood transfusions and growth hormone injections. His parents feared he would be severely disabled and possibly not even see adulthood.

Mum Sarah said: “At six months he wasn’t sitting up and then he wasn’t even beginning to babble or talk. That’s when I had real concerns. Dad Robert said: “He had a lot of appointments and some were quite invasive. We were told sometimes people just never get a diagnosis.”

Medics had no idea what was causing Owen’s poor development and by four and a half he struggled to walk unaided and could say just 20 to 30 words. He joined the Genomics England project, which sequenced his entire genome and found he had trouble processing thyroid hormones.

The DNA test discovered a mutation in the THRA gene – which has only been successfully diagnosed in 30 people worldwide.

Owen was given a thyroid hormone tablet called thyroxine, which he takes daily, and his condition has improved dramatically. His walking and coordination is better, he has grown significantly and he has more energy.

Sarah said: “This was transformational. You put your life on hold. You think, ‘What’s going on with my child?’, and you have no answers.

“When we did get some answers it was amazing. I just want Owen to have a full and fulfilling life.”