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 2-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. …
Ryan (above left) and Tyler Earle of Winnipeg, Canada had a ticking time bomb inside their heads. Both boys have a rare brain disorder called moyamoya that had caused the arteries feeding their brains to become dangerously narrowed.
At first, they experienced only headaches. But then Ryan suddenly lost his ability to write, began having trouble with word-finding and became weak on one side of his body — signs he had suffered a stroke. He was diagnosed with moyamoya and had partial surgery, but a second stroke took away part of his vision and partially paralyzed him.
Ryan needed a second operation as soon as possible. By this time, Tyler was diagnosed with advancing moyamoya disease and would need neurosurgery too, on both sides of his brain. …
“I heard a noise and went in and saw him in a full-blown tonic-clonic seizure,” says his mother, Amy. Paramedics brought him to the hospital. Any further seizures could mean trouble, they told the Stedmans. “They said, basically, ‘you’re allowed one seizure in your life,’” Amy recalls.
A few months later, on an August evening around 10 p.m., Adam spoke with his girlfriend on the phone. She later told Amy, “Go check on him—he sounds kind of out of it.” That turned out to be a second seizure.
The third seizure, the worst yet, happened on Nov. 11. Adam had the day off from school, and his girlfriend was visiting. The family was eating dinner when the seizure started. It lasted nearly five minutes, and Adam was turning blue. Another seizure followed within weeks. The local hospital in Connecticut did an MRI, and the Stedmans received a call: “Can you come in before the office opens?”
Adam had an arteriovenous malformation, or AVM, a tangle of abnormally connected arteries and veins. Through a recommendation, the Stedmans met five days later with Dr. Edward Smith, a neurosurgeon in Boston Children’s Hospital’s Cerebrovascular Surgery and Interventions Center.
Because the AVM was in the visual processing area of his brain, Adam faced a risk of serious vision loss if the AVM wasn’t removed soon. It could bleed or burst at any time.