Genomics study reveals rare condition in brothers before symptoms appeared

Family handout/PA Wire

By Ella Pickover, PA Media

Two brothers have been diagnosed with a rare genetic condition before their symptoms appeared thanks to a genomics study.

Revan and Thorin Barker-Roe should avoid life-limiting complications of adrenoleukodystrophy (ALD) as they are being monitored closely by doctors who will intervene early if symptoms appear.

Most children are only diagnosed when they have symptoms of the rare disorder, at a point where treatment options have become more limited. ALD can affect the adrenal glands, the nerves of the spinal cord and sometimes white matter in the brain.

But they were found to have the genetic change linked to the condition because their mother signed them up to the Generation Study, led by Genomics England in partnership with NHS England.

The study is screening 100,000 newborn babies in England for genetic conditions.

Jessica Barker-Roe, 32, from Bradford, West Yorkshire, told the Press Association she first heard about the study during a long stint in hospital while pregnant with Revan, who is now eight months old.