My baby son was diagnosed with a one in a million condition after doctor noticed unusual features
A baby boy was diagnosed with a one in a million condition after a doctor commented on the size of his head during an appointment regarding his belly button.
Conor O’Rourke, who is now three-years-old, was treated for Vein of Galen malformation (VOGM) using a pioneering surgical technique by specialists at Alder Hey Children’s Hospital, in what is believed to be a world-first procedure.
VOGM affects around 10 to 12 babies in the UK each year and occurs during pregnancy. The condition causes the veins and arteries in the brain to connect abnormally, increasing blood flow and leading to severe complications if undetected. Conor was one of a rare subgroup of patients, meaning the usual treatment did not work.
His mother Lucy O’Rourke, 36, from Bolton, said that Conor was around eight or nine months old when she took him to an appointment for a potential umbilical hernia, a usually harmless condition when the intestines bulge through the opening in muscle near the belly button.
She told the PA news agency: “He was looking at his his belly button, and then suddenly wanted to ask me questions about his head. And obviously I was slightly confused at that point. I didn’t really know what the issue was, I’m just looking at my beautiful baby, and didn’t think that there was an issue.
“[The consultant] felt like he had quite a pronounced forehead; it was quite a large head. And he had very visible veins on his forehead, and his temples, round his eyes. We had seen those things, but obviously we didn’t in a million years think that there was something sinister going on. We thought he was very fair skinned, and that was why we could see his veins.”
Mrs O’Rourke added: “Looking back now, I look at pictures, and I think, ‘oh yeah, you can sort of see now’, knowing what we know. But in that moment in time, I was a new mum, first-time mum, didn’t really spot anything untoward, really.
At the time of the appointment, Conor had not yet sat up on his own but had met all his other milestones. She was reassured that it was probably nothing to worry about but warned to take her baby to A&E if he suddenly started vomiting or was difficult to rouse after sleeping.
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The next day, Mrs O’Rourke - who described herself as “an anxious mum” - contacted their GP, and Conor went for an MRI in March 2023. She and her husband, 38-year-old Sean O’Rourke, weren’t concerned—until they were called into a family room.
At that stage, doctors did not know what was wrong with Conor but told the couple he had a “significant brain issue” that would require surgery. The results were assessed by specialists at another hospital, with more scans ordered.
Mrs O’Rourke said: “It was only after those scans that they said to us that they think that it’s Vein of Galen malformation and then started to explain to us a little bit what that meant. But in reality, they’d never seen it before in Bolton.”
Conor’s mother said the news was “terrifying” and the couple felt “helpless, describing it as “an out of body experience.”
He was referred to Alder Hey Children’s Hospital in Liverpool, where he underwent three procedures known as endovascular embolisations. This involves inserting a small, flexible tube called a catheter into the arteries, typically through the groin.
Doctors guide the catheter through the body to the targeted area, using X-ray imaging, where they inject a glue-like substance to block the affected artery. In some cases, the procedure can be done by inserting the catheter into the veins instead.
However, Conor is one of a rare subgroup of patients where veins block off and doctors can no longer get to the malformation. When this happens, the jugular veins – a set of major blood vessels in the neck – also block off, causing the veins from the brain to try and drain elsewhere.
According to the toddler’s surgeon, Conor Mallucci, this was causing swelling and damage to the Conor’s brain stem and spinal cord, leading to him to deteriorate.
Mr Mallucci said: “It’s a fight against time, and that happened quite early in Conor, which is why we had to come up with this alternative route.
The operation - which took place in March - involved accessing the malformation through Conor’s skull to target the affected blood vessels. Alder Hey is one of only two centres in the UK equipped to perform the procedure on children. Conor recovered well and is now considered “99% cured” by Mr Mallucci.
Mrs O’Rourke said: “As much as I feel like this is an incredibly unlucky diagnosis, I sometimes have to pull that back and think actually we were incredibly lucky in a lot of ways.
“We were already under a consultant at Royal Manchester Children’s, who mentioned something. And then we were also incredibly lucky, in a way, that I’m very much an over-thinker, and I was an anxious mum, to not leave it there.
“And thank goodness that we did. Because if we didn’t, I don’t know where we would actually be.”
Conor recently graduated from nursery and will begin pre-school in September. Mrs O’Rourke said she is “so proud” of her “resilient” son, adding: “They not only saved his life, they saved ours too.”
She said that her husband has committed to running the Manchester Marathon next April to raise money for Alder Hey, adding: “Thank you just doesn’t cut it.”