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.
Making the genetic connection
It wasn’t until Jessie and Tim started researching more about the condition that they made the connection to Tim’s boyhood surgery. Cavernous malformations are not always genetic, but people with the less common genetic type tend to have many malformations that often get larger over time. A few months later, a blood test confirmed what the couple suspected — Matty’s condition was genetic.
This concerned Jessie and Tim because Matty’s symptoms were not improving despite physical and speech therapy. Then, about five months after his
diagnosis, Matty had a few bouts of unexplained vomiting in his sleep that left him cranky and tired the next day. After the third night of vomiting, he couldn’t walk the next day and seemed especially out of it.
“He reverted back to crawling, but was even falling over as he was trying to crawl, so at that point we knew something was definitely wrong,” recalls Jessie.
A new MRI showed that several of Matty’s malformations were bleeding, but their neurologist assured them he didn’t need surgery. Instead, she suggested they follow up with another MRI in a year.
A second opinion
“That just didn’t seem right to us. We knew there had to be something else we could do,” says Jessie. “So we started looking around for a second opinion. It took us several months, but we finally found Dr. Smith at Boston Children’s. We met him and felt like he was really interested in Matty and understood what we were going through.”
After comparing Matty’s previous MRIs with new images, Smith called the Siegrists with some troubling news: One of the malformations in Matty’s brain had doubled in size since the previous MRI. Smith recommended surgery to remove it before it became so big that it turned into an emergency. The timing wasn’t great — Jessie was 38 weeks pregnant with their third child, Andrew.
“We talked about it and decided it would be easier to have the surgery before the new baby was born, so we scheduled it right away,” says Jessie.
The following week, on August 1, Matty returned to Boston Children’s for surgery. Two days later, he was clamoring to get out of bed and was ready to visit the hospital’s playroom.
“We were trying our best to corral him, not wanting him to do too much too soon, but he just wanted to play,” recalls Jessie.
Matty returned home on August 4, and after a few days of crankiness, was back to playing with his favorite toys.
“In less than a week, he was pretty steady on his feet,” says Jessie. “You would never know he had just had brain surgery. It didn’t seem to slow him down at all.”
Moving from ‘terrifying’ to ‘manageable’
It’s clear from Matty’s big smiles and high fives that he’s feeling much better. With the help of physical therapy and speech therapy, his speech is getting better and he’s now following a very typical development. He needs one more post-surgical MRI to make sure his condition is stable, and then he will move to yearly MRIs with his neurology team, which now includes a neurosurgeon closer to their home.
“We’ve found a doctor who had previously worked with Dr. Smith and who’s wonderful,” says Jessie. “They’re able to coordinate our care so we have a neurosurgeon who’s only 20 minutes from our house, and we also have Dr. Smith in Boston.”
Since Matty’s diagnosis, Jessie and Tim have learned that their 4-year-old daughter Lydia also has the CCM3 mutation. So far, she has not had any symptoms, but she also will need MRIs to check her condition. Their new baby, Andrew, has not yet been tested.
“Having the right doctor takes this condition from being terrifying to being manageable. Having someone who knows what’s going on and who is interested in your kid and fighting for your kid makes all the difference.”
Learn more about the Boston Children’s Cerebrovascular Surgery and Interventions Center.