A Rare Birth Defect and a Groundbreaking Treatment
A seemingly simple comment about the size of a baby’s head led to the discovery of an extremely rare birth defect, changing the life of a young boy and prompting medical professionals to develop a groundbreaking treatment. This story highlights the resilience of a family and the innovative work of surgeons at Alder Hey Children’s Hospital in Liverpool.
The Diagnosis
In 2023, when Conor O’Rourke was around eight or nine months old, his mother, Lucy O’Rourke, took him for a routine appointment with a consultant due to an issue with his belly button. During the visit, the doctor raised concerns about the size of Conor’s head, which eventually led to a diagnosis of vein of Galen malformation (VOGM). This condition is so rare that it affects approximately one in a million children.
Lucy described the moment as “terrifying.” She felt like she was living in a nightmare and believed there might be a mistake in the scans. The family felt completely helpless during this time, crying and sitting in silence for hours without knowing what to do next.
The Struggle with Treatment
Over the course of 2023, Conor underwent three operations to block off arteries or insert catheters into his veins as part of his treatment for VOGM. Despite these efforts, the condition continued to affect him, leading to complications such as a small stroke after his third operation. After a year of physiotherapy and recovery, doctors told Lucy that Conor was not in a position for more operations and would need to be scanned again in a year.
Initially, the family was happy to have a year without scans, but soon Lucy noticed that Conor was starting to struggle physically. He began limping on his left leg, indicating that the condition was still affecting him significantly.
Understanding Vein of Galen Malformation
Vein of Galen malformation (VOGM) is a rare condition that occurs during pregnancy. It involves abnormal connections between blood vessels within the brain, specifically between arteries and deep veins. These connections cause the heart to work harder to supply blood to the brain, potentially leading to serious complications if left untreated.
Symptoms of VOGM can vary from child to child and may include an enlarged head, prominent veins on the face, dark circles under the eyes, and an enlarged heart. If untreated, VOGM can lead to heart failure.
A New Approach to Treatment
At this point, Conor was considered “untreatable” and had run out of options. This prompted Mr. Conor Mallucci, a consultant paediatric neurosurgeon at Alder Hey, and his team to come up with a new plan. They developed a technique to access the affected blood vessels through open surgery beyond the blockage.
This high-risk operation involved exposing the blocked veins at the jugular level, which required careful precision. The procedure was carried out in March and resulted in a successful outcome. Doctors initially warned the O’Rourke family that Conor could be recovering in hospital for up to six weeks, but he surprised everyone by returning home just 10 days after the surgery.
Recovery and Future Outlook
Mr. Mallucci stated that Conor is now 99% cured and will not need any more operations. Instead, he will have annual scans to monitor his brain and an x-ray to investigate his blood vessels in around five years.
Lucy expressed her relief, saying that no surgery is now needed unless they encounter broken arms or legs. She added that they are prepared to handle any situation, as long as it doesn’t involve more brain surgery.
A Story of Hope and Innovation
The story of Conor O’Rourke highlights the importance of early detection, innovative medical techniques, and the strength of a family facing a rare and challenging condition. It also showcases the dedication of medical professionals who continue to push the boundaries of treatment to improve the lives of their patients.