Genome test finds boy's 'one-in-a-million' illness

Louise Wilkinson noticed something was wrong with her son Dafydd shortly after his first birthday.

She said he was unable to sit up well or drink from his bottle, which he had been able to do from a young age.

He was taken to Noah's Ark Children's Hospital in Cardiff by ambulance after tests at a local hospital could not find out what was wrong with him.

After two weeks of tests, the genetics team were brought in, who found both Ms Wilkinson and her husband Mark were carriers of a faulty gene, which had been passed onto Dafydd.

Dafydd was diagnosed with a Dopa-responsive dystonia, a neurological movement disorder which affects about one-in-a-million children, although Dafydd is thought to be the youngest person in Europe to be affected.

A new whole genome DNA test being offered to children on the NHS in Wales will be more comprehensive than the one Dafydd benefitted from.