It began like any typical late summer day. Lilith Borden and her mom, Victoria, had stopped by a farm near their Concord, New Hampshire, home where the 3-year-old could enjoy an ice cream cone — and burn off some energy playing in a nearby field.
“We were running through the grass, when Lilith suddenly grabbed the back of her neck and screamed that she had a boo-boo,” Victoria remembers. Within seconds, she seemed to have trouble moving. As Victoria called for help, the little girl collapsed to the ground. …
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. …
Carolyn Milks turns 8 on August 21. It’s a big celebration. Carolyn and her family aren’t just celebrating her birthday — they’re celebrating Carolyn’s return to normal. For most of the summer, things like swimming, riding her bicycle and horsing around with her sisters and cousins had been out of the question for Carolyn.
“This is what kids really want. They just want to be normal and do their normal activities,” says Carolyn’s mother Kristen.
It had been a topsy-turvy spring for the Milks family.
My heart and mind froze. Her whole left side was weak. … Only one part of the body controls both the arm and the leg. I thought, ‘Carolyn has something wrong with her brain.’
Carolyn, normally a bright, active second grader, started having puzzling symptoms in March.
“She was having a hard time concentrating on her homework and was crying, and my husband and I couldn’t figure out why,” recalls Kristen.
Over the next few days Kristen, an occupational therapist, began observing strange movements in her daughter’s left arm and hand. Carolyn appeared to struggle with everyday activities like holding a pencil, tying her shoes, and she even tried to switch her hand dominance. Kristen set up her phone to video Carolyn.
At the end of the week, while Carolyn, her twin sister Laura and their big sister Emma, were playing at a trampoline park, Kristen watched the videos.
“I was becoming alarmed at what I saw with the functioning in her left arm and hand. Later that day, I watched Carolyn almost fall doing a back bend. Her left arm didn’t hold her weight. And then when I watched her walk, she almost fell a couple of times; she didn’t have full control of her left leg. My heart and mind froze. Her whole left side was weak. … Only one part of the body controls both the arm and the leg. I thought, ‘Carolyn has something wrong with her brain.’” …
Two and a half years ago, 15-year-old Adam Stedman had a seizure out of the blue.
“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?”