(Image: Family handout/PA Wire)
A BRADFORD mum says she feels "ridiculously lucky" after a study discovered her two sons could have a rare condition.
Revan and Thorin Barker-Roe were found to have a genetic change linked to adrenoleukodystrophy (ALD).
This was after their mother, Jessica Barker-Roe, took part in a newborn screening study.
The study, known as the Generation Study, is screening 100,000 newborns in England for genetic conditions and is led by Genomics England in partnership with NHS England.
Early diagnosis
Mrs Barker-Roe, 32, from Bradford, said she first heard about the study during a hospital stay while pregnant with Revan, who is now eight months old.
She said: "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."
Revan was later tested and found to have the genetic change associated with ALD, a progressive condition that affects vision, movement, cognition and the adrenal glands.
Doctors quickly moved to test his four-year-old brother Thorin, who was also found to carry the gene change.
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".
(Image: Family handout/PA Wire)
The finding means both boys can now be closely monitored, with early treatment possible if symptoms appear.
ALD typically only becomes apparent once symptoms begin, at which point treatment options are limited.
Mrs Barker-Roe said: "That happened really quickly because symptoms start around four years old, and once symptoms start it is really hard to treat it."
Long-term monitoring
Both boys will now have MRI scans every six months until they are around 12 years old, along with regular blood tests to monitor adrenal function.
Mrs Barker-Roe said: "I feel so lucky, instead of feeling worried, I feel so ridiculously lucky that we timed having a baby when the Generation Study was out there as an option and I was in hospital at a time when it was being offered by the research midwives because I had not heard of it."
She believes the outcome could have been very different if she had not taken part in the study.
She said: "If I hadn’t had that bleeding I wouldn’t have been in hospital, we probably wouldn’t have signed up for it and the first we would have known about it was when one of the boys got ill."
Their father, Dominic Barker-Roe, 36, said: "We are now in a position where it’s surveillance and, if it does occur, the worst thing that could happen is surgery and a bone marrow transplant – yes, it comes with risk, but it far less risky than the alternative."
National impact
The Generation Study is currently available at more than 70 hospitals in England and aims to provide evidence on the use of whole genome sequencing in routine newborn screening.
Professor Dame Sue Hill, chief scientific officer at NHS England, said: "By bringing genomic research and routine NHS care together, we can help families get answers sooner while building the evidence for how genomics could improve newborn care in the future."
So far, more than 85,000 families have joined the study and more than 200 "condition suspected" results have been returned by Genomics England to the NHS for confirmatory testing.
Professor Rich Scott, chief executive at Genomics England, said: "We are really pleased that the Generation Study has helped Revan’s family receive an early result for both of their children."
He said: "This is exactly the kind of evidence the study is designed to build, showing how whole genome sequencing at birth could support earlier diagnosis, earlier care and better understanding of rare genetic conditions."
Dr Catriona Firth, consultant neonatologist at Bradford Teaching Hospitals NHS Foundation Trust, said early detection gave the family the "best possible start" and allowed immediate referral to specialists.
Health minister James Frith said: "I am relieved for Revan, Thorin and their parents that the gene for ALD was picked up early thanks to this study, and that care has now been put in place."