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A Child A rare eye was found cancer And his sight is expected to be saved thanks to a new screening tool that is being evaluated for widespread use.
Families across England are taking part in a “world-leading research study” which is examining 100,000 newborns children For dozens of genetic conditions in England.
A mother whose son was diagnosed with a rare cancer found in the study has told how the results were “completely unexpected”.
Vicki Underhay’s son Freddie was enrolled in the Generation Study, in which newborns are presented with a full genome sequencing Using blood samples, usually taken from the umbilical cord shortly after birth.
Just four weeks after being born at Sheffield Teaching Hospital in April, Freddie was diagnosed with a rare and aggressive form of eye cancer, which was discovered as a result of screening.
Joey Underhay, Freddie’s father, said taking part in the study changed his son’s life “phenomenally”.
The baby, now six months old, was diagnosed with hereditary retinoblastoma due to a mutation in his RB1 gene.
Only about 44 children are diagnosed with retinoblastoma each year in the UK.
Catching cancer early is important to save the vision of affected children.
When there is no known family history of the disease, cancer often goes undetected until the disease has progressed.
Mrs Underhay said, “There was no indication that anything was wrong – he was a normal little child, so the results were completely unexpected.”
Within four days of the genetic abnormality being discovered, Freddie was seen by specialists at Birmingham Children’s Hospital, where a tumor was found.
Freddy was given a combination of laser treatment and chemotherapy and his doctors are hopeful that they can save his vision.
Mrs Underhay, 36, told the PA news agency: “She said we were incredibly lucky we caught it so quickly.
“It was an amazingly quick turnaround.”
She said the couple had spoken to other families of children with similar conditions who spent months trying to get a diagnosis.
Mr Underhay, 37, said: “Our decision to join the Generation Study has changed Freddie’s life in unprecedented ways.
“We were told that the first six months are crucial for the diagnosis and treatment of this condition.
“There is no telling at what point this would have been discovered and what would have happened if we had not participated.
“The care that Freddie has received, and us as parents too, has been second to none. We can’t thank everyone enough for everything they are doing for Freddie.”
He told PA: “If we had not taken part in the study the outcome could have been completely different.
“He was a normal little kid, you wouldn’t know there was anything wrong with him.”
Mrs Underhay said: “We hope this type of test will be readily available to any parents who want it for their child in the future.”
Dr Joe Abbott, Freddie’s ophthalmologist, said: “Thanks to the family taking part in the Generations Study, the early detection of Freddie’s eye tumor has significantly improved his chances of saving his eyesight.”
The research project, led by Genomics England in partnership with NHS England, is available in 51 hospitals in England.
The study will help identify more than 200 rare conditions that cause the gradual loss of physical and mental skills.
Experts say early detection of these rare genetic conditions could benefit hundreds of thousands of children with earlier diagnosis and treatment that could help slow the progression of the disease or extend their lives.
Currently, these conditions can be difficult to diagnose, which can lead to delays in care.
Whole genome sequencing provides a readout of a person’s entire genetic code and looks for changes associated with specific health conditions.
The Generation Study, which launches in 2024, examines these conditions in babies who appear healthy but whose symptoms do not become apparent until later in life.
The study’s findings will help inform the government’s long-term ambition to provide genomic sequencing to all newborns as part of routine care.
This will generate evidence on whether every baby should be offered whole genome sequencing alongside the existing heel prick test – which screens for 10 rare but serious conditions – as part of screening for rare genetic conditions at birth.
So far, more than 20,000 families have joined the study and more than 60 “condition suspected” results have been returned to the NHS for confirmatory testing by Genomics England.
Dr Rich Scott, chief executive of Genomics England, said: “We believe genomics can transform healthcare in this country and can be used to get ahead of serious disease.
“It is incredibly inspiring to see the life-changing impact of the Generation Study for families like Freddie’s, who are able to access treatment that makes a big difference so soon after birth.
“Thousands of babies are born with rare genetic conditions in the UK every year, but they can be difficult to diagnose.
“On average, it takes about five years for a rare condition to be diagnosed, at which point it has often progressed to the point where treatment, if it exists, is much less effective.
“We are fortunate that the UK is uniquely placed to test and – if the evidence supports it – implement genomic innovations that help us move towards preventing the disease, not just treating it.
“The Generations Study is an example of this – a national-level research study developing evidence to support whether every child should be offered genomic sequencing. This is an important step towards a future of health care that is more preventative, with genomics playing a key role in this throughout one’s life.”
Professor Dame Sue Hill, Chief Scientific Officer for England, said: “Today’s announcement is a major step forward for the NHS in the use of whole genome sequencing in newborns.
“Freddie’s amazing story highlights the strength of our world leading partnership with Genomics England, demonstrating that it is possible to identify rare genetic conditions like this earlier so children can start treatment faster, meaning they have the best chance of a cure.”