A family say their baby's life has been changed "phenomenally" after a medical trial caught their young son's rare eye cancer, despite him passing every vision test.
Vicky and Joey Underhay's world was turned upside down when their baby Freddie was diagnosed with a rare and aggressive form of eye cancer - just days after being born at Sheffield's Jessop Wing. Vicky said: "There were no signs that anything was wrong. He was a normal little baby, so the results came totally out of the blue. He had passed all his eye tests in the hospital."
Freddie is one of around 44 children diagnosed with retinoblastoma every year - a rare hereditary condition caused by a change in Freddie's RB1 gene. Catching it early is crucial for preserving vision. When there is no known family history, diagnosis often comes later, once symptoms have progressed.
However, Freddie's cancer was detected because Freddie was enrolled in the Generation study - part of an effort to screen 100,000 newborn babies in England for more than 200 genetic conditions. Within four days of finding the genetic abnormality Freddie was seen by experts at Birmingham Children's Hospital, where a tumour was found, with doctors now optimistic that this early detection could be key to preserving his eyesight.
Freddie was given a combination of chemotherapy and laser treatment to treat the tumours in his eyes. Due to the nature of retinoblastoma and the genetic change involved, Freddie will need ongoing treatment, monitoring, and specialist care for the foreseeable future.
Dad, Joey Underhay, said: "Our decision to join the Generation Study has changed Freddie's life phenomenally. We were told that the first six months is vital in diagnosing and treating the condition. There's no telling at what point it would have been discovered if we hadn't taken part and what might have happened."
Thanks to participating in the study, samples of Freddie's blood - taken from the umbilical cord shortly after birth - were sent for whole-genome sequencing, a technique used to read all of someone's DNA to understand their genetic makeup. As a result, his rare sight-threatening condition was identified much earlier than usual.
Vicky, who described the turnaround as "incredibly quick", said: "When you sign up to research like this, you think it will never be you. But if we had thought 'ignorance is bliss' then the cancer would have spread down his optic nerve and into his body. We're hopeful that this kind of testing will be readily available to any parent who wants it for their child in the future."
The Generation Study is currently running in 51 different hospitals in England - including Sheffield's Jessop Wing - and is looking for more than 200 rare conditions which usually appear in the first few years of life.
The study, which launched in 2024 and will run until 2027, has already identified numerous conditions - allowing those babies to receive vital treatment at an earlier stage that can slow their condition's progression or stop them from becoming ill.
So far, more than 20,000 participants have joined the study and more than 60 'condition suspected results' have been returned by Genomics England to the NHS for confirmatory testing.
The couple are now keen to raise awareness of the life-changing impact of joining the Generation study. Vicky said: "We can't thank the midwives who signed us up enough, along with the national Generation Study team, for identifying Freddie's genetic mutation causing cancerous tumours in his eye. It is an incredibly rare case but other genetic conditions, if treated early, can have life-changing outcomes."
Speaking on participating in the study, Natalie Khoaz, Research Midwife and Principal Investigator of the study at Jessop Wing, said: "Jessop Wing is proud to be taking part in the Generation Study.
"Our midwives have worked phenomenally hard to recruit newborns into the study, so to hear the direct impact of our efforts on this baby and the family's life is truly humbling."