Doctor's Head Size Note Led to Rare Baby Diagnosis

A Rare Condition and a Life-Saving Journey

A baby boy was diagnosed with an extremely rare condition after a doctor noticed something unusual about the size of his head during an appointment for a different issue. This discovery led to a groundbreaking treatment that has now changed the life of the child and his family.

Conor O’Rourke, who is now three years old, was treated for a vein of Galen malformation (VOGM) using a new surgical technique at Alder Hey Children’s Hospital in Liverpool. This procedure is believed to be a world-first and has provided hope for other children facing similar challenges.

VOGM is a rare condition that affects approximately 10 to 12 babies in the UK each year. It occurs when the veins and arteries in the brain connect abnormally, causing increased blood flow and potentially severe complications if not detected early. For Conor, this condition placed him in a rare subgroup where traditional treatments were ineffective.

His mother, Lucy O’Rourke, from Bolton, described the past few years as an “out of body experience” for her and her husband, Sean. She recalls taking Conor to an appointment for what was thought to be a potential umbilical hernia, a usually harmless condition. During the visit, the doctor noticed something unusual about the shape of his head and the visible veins on his forehead and temples.

At the time, Lucy didn’t think much of it, believing it was due to her son’s fair skin. However, the doctor’s concern lingered, prompting her to call her GP the following day. An MRI scan in March 2023 revealed a significant brain issue, leading to more tests and a diagnosis of VOGM.

The family was told they needed surgery, but the doctors initially had no clear plan. It wasn’t until further scans that specialists identified the condition and began explaining its implications. The couple felt helpless and terrified throughout the process.

Conor underwent three operations called endovascular embolisations, which involve inserting a catheter into the arteries or veins to block off the affected vessels. However, because Conor belonged to a rare subgroup where the veins had already blocked, doctors had to find an alternative approach. They accessed the malformation through his skull, targeting the affected blood vessels directly.

The operation was successful, and Conor is now considered “99% cured.” His surgeon, Conor Mallucci, emphasized the urgency of the situation, noting that the condition was progressing quickly and required immediate action.

Lucy feels a mix of emotions about the diagnosis. While she acknowledges the bad luck, she also believes they were incredibly lucky in several ways. The fact that they were already under a consultant’s care and that she was an anxious mother who followed up on the doctor’s concerns played a crucial role in saving Conor’s life.

Today, Conor is thriving. He recently graduated from nursery and will start pre-school in September. His mother is proud of his resilience, especially since there were moments when doctors questioned whether he could handle the transition. Now, they are confident in his progress.

Sean has also taken steps to give back by committing to run the Manchester Marathon next April to raise money for Alder Hey Children’s Hospital. Lucy expressed deep gratitude, saying, “Thank you just doesn’t cut it.” The hospital not only saved Conor’s life but also helped preserve the family’s future.