Father and son find unexpected connection

Matty Siegrist and his dad Tim share the same thick brown hair and ready smile. They also share a trait that’s not so visible — a mutation in the CCM3 gene that causes cavernous malformations, abnormal blood vessels that form in the brain and spinal cord. When these blood vessels leak, they can cause seizures, headaches and a host of other problems.
A lively and high-spirited two-year-old, it’s hard to believe Matty recently had brain surgery or that before the surgery he was struggling to walk because his balance was so poor. Matty’s surgery, performed by neurosurgeon Dr. Edward Smith, of the Boston Children’s Hospital Cerebrovascular Surgery and Interventions Center, had removed one of the larger malformations from his brain.
Tim also had brain surgery as a child, but at that time his doctors didn’t fully understand his condition or realize it was genetic. Tim rarely thought about it again until Matty started having strange symptoms, at around 13 months.
“He had been saying a few words, and then he just stopped,” says Matty’s mom, Jessie. “Then he started sleeping a lot. His doctor tested his thyroid and ran a couple of other tests, but they couldn’t find anything wrong.”
Concerned about these symptoms, Matty’s pediatrician recommended they see a neurologist near their home in Connecticut. The neurologist ordered an MRI and diagnosed the cavernous malformations, but she assured them that they often remained stable and didn’t require treatment.
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Source: Thrive, Children's Hospital Boston - October 10, 2016 Category: Pediatrics Authors: Ellen Greenlaw Tags: Our Patients’ Stories cavernous malformations Cerebrovascular Surgery and Interventions Center Dr. Edward Smith Second opinion Source Type: news