A mother has described how she was “lucky” to discover her sons were found to have a genetic change linked to a rare condition after signing up for a study because she was “bored”.
Now careful surveillance of Revan and Thorin Barker-Roe should mean they avoid life-limiting complications of adrenoleukodystrophy, also known as ALD.
Most children are only diagnosed with ALD when symptoms appear and treatment options have become limited.
But after being found to have the genetic change linked to the condition, Revan and Thorin are being monitored closely by doctors who will be able to intervene early if symptoms appear.
The genetic change was only detected because Jessica Barker-Roe signed up to to take part in a research study which is screening 100,000 newborn babies in England for dozens of genetic conditions.
The Generation Study, led by Genomics England in partnership with NHS England, will provide evidence on whether widespread use of the screening tool should be used in the NHS.
Mrs 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.
“The research midwives were just making their way around and chatting to patients, they asked me if I would be interested in signing up to the Generation Study,” she said.
“Honestly I was just bored so I said, ‘Yeah, whatever’ and put it to the back of my mind.”
The test involved a heel prick test on Revan and it revealed he had the genetic change associated with ALD – a progressive condition which causes problems with vision, movement and understanding as well as adrenal problems.
Doctors also requested to test the Revan’s brother, Thorin, now aged four.
“That happened really quickly because symptoms start around four years old, and once symptoms start it is really hard to treat it,” Mrs Barker-Roe said.
These tests revealed Thorin also has the gene change associated with ALD.
While having the genetic change does not necessarily lead to ALD, it does mean the boys can be monitored because treatment for neurological symptoms associated with ALD is only possible before symptoms start.
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