Daughter's leg trouble revealed a rare spinal condition requiring emergency surgery

A six-year-old who began dragging a leg was found to have hereditary haemorrhagic telangiectasia with multiple arteriovenous malformations, including one on her spine; she had emergency spinal surgery in July 2024 and now has an incomplete spinal cord injury and is in ongoing rehabilitation.

Sofia Hill, aged six, began dragging a leg and stumbling in mid‑2024, which prompted hospital evaluation. Initial referrals considered cerebral palsy, but scans showed multiple arteriovenous malformations (AVMs) and a diagnosis of hereditary haemorrhagic telangiectasia. Doctors advised urgent surgery to remove a spinal AVM in July 2024 to prevent a life‑threatening outcome. The operation was performed, and Sofia has since been in specialist care and rehabilitation while returning to school. Key facts: - Symptoms started in June 2024 with left‑leg dragging and frequent stumbling. - Imaging found a spinal arteriovenous malformation and multiple AVMs elsewhere, and the family were diagnosed with hereditary haemorrhagic telangiectasia. - Sofia underwent two long spinal procedures in July 2024 after clinicians recommended urgent surgery to address the spinal AVM. - The surgery resulted in an incomplete spinal cord injury; she has undergone intensive physiotherapy, attends specialist Neurokinex sessions, can take steps on crutches and has returned to school. Summary: Sofia faces ongoing effects from the spinal injury and will need regular monitoring for AVMs. Rehabilitation continues with goals including greater independent walking, and further progress is undetermined at this time.