A passing comment about the size of a baby’s head led to the infant being diagnosed with an extremely rare birth defect.
Surgeons at Alder Hey Children’s Hospital in Liverpool have now used a brand new technique to save the boy’s life in what’s thought to be a world first.
Conor O’Rourke was around eight or nine months old when his mum Lucy O’Rourke, 36, took him to an appointment with a consultant over an issue with his belly button in 2023.
While they were there the doctor raised concerns about the size of Conor’s head, and in March of that year he was diagnosed with vein of galen malformation (VOGM), which his mum said was ‘terrifying’.
Lucy explained: ‘I genuinely felt like I was living in a nightmare, and I felt like there was going to be a point where somebody was going to phone me and say, “sorry, we’ve mixed up the scans, this isn’t your child, we’ve got it wrong”, and we just felt completely helpless in that moment in time.
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‘We just cried and sat in silence for hours. We just didn’t know what to do with ourselves.’
During 2023, Conor had three operations to block off arteries or insert catheters into his veins as part of his treatment for VOGM.
Conor Mallucci, a consultant paediatric neurosurgeon at Alder Hey, explained: ‘Conor had already had those procedures, both from the artery and the vein, but after a while, in a rare subgroup of these patients, the veins block off and you can no longer get to the malformation.
‘And you can’t get up there through the artery either, and so you’re left with an untreatable malformation that’s still supplying abnormal blood to the veins.
‘When the jugular veins block off, which happened in Conor, the veins from the brain try and drain elsewhere.
‘That’s rare to this condition, but it’s specific to this condition.
‘In his case, he had all these abnormal channels draining to his brain stem and spinal cord. And that results in swelling and damage, which is why he was deteriorating over time.’
Following his third operation in 2023 Conor had a small stroke, and after a year of physiotherapy and recovery Lucy was told he wasn’t in a position for more operations, and they would scan him in a year.
At first his parents were ‘so happy’ to have a year with no scans – but it wasn’t long until Lucy noticed Conor was starting to struggle.
What is vein of galen malformation?
Vein of galen malformation (VOGM) is a rare condition which occurs in pregnancy, affecting about one in a million children.
Great Ormond Street Hospital says there’s no known cause of VOGM, but says it isn’t related to anything an expectant mum did or didn’t do during pregnancy.
The malformation causes abnormal connections between blood vessels within the brain, between the arteries (which carry blood to the brain from the heart) and deep veins (which take blood from the brain back to the heart).
The draining happens at the vein of galen, located at the base of the brain, but because of the abnormal connections the heart needs to work harder to account for it and ensure the brain keeps developing.
Symptoms vary from child to child and VOGM can be difficult to detect and diagnose. Some babies show symptoms straight after birth but others take much longer.
The VGM can cause pressure on the brain, an enlarged head (hydrocephalus), and prominent veins on the face and dark circles under the eyes.
The heart may also be affected by the increased workload and become enlarged. If untreated, this may lead to heart failure.
Lucy said: ‘In early December, I started to notice that physically he was struggling, and he was limping quite a bit on his left leg.’
By this point, Conor was ‘untreatable’ and had ‘run out of all his options’, which is what spurred Mr Mallucci and the rest of the Alder Hey team to come up with a new plan.
Mr Malucci explained: ‘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.
‘You couldn’t get into his head through the veins, because the jugular veins have blocked off, and you can’t block off through the artery any more.
‘So that’s when we came up with our technique, which is to access the veins through open surgery beyond the blockage.’
The ‘high risk’ operation went ahead in March and saw the team perform open surgery to access the malformation through the skull to target the affected blood vessels.
Alder Hey is one of two centres in the UK able to carry out this procedure on children.
Mr Mallucci said: ‘Exposing these veins that were blocked at the jugular level is high risk.
‘You lose blood. It’s a big operation, and to put a needle directly into one of those is a little bit hair raising, so we had to be very careful about that.’
After surgery doctors warned the O’Rourke’s Conor could be recovering in hospital for up to six weeks – but after waking up from the operation asking for chips, he was able to return home in just 10 days.
Conor is now 99% cured, Mr Mallucci said, and will not need any more operations. Instead he’ll have annual scans to monitor his brain, and an x-ray to investigate his blood vessels in around five years.
Lucy said: ‘No surgery now – unless we get broken arms or legs – but with something like that, we’re kind of like “bring it on”.
‘As long as it’s not more brain surgery, then we’ll probably be able to cope with that.’
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