It was early morning and Tiffany and Joe Palowski were worried. Their son, Michael, was undergoing a magnetic resonance imaging (MRI) scan to determine the cause of his excruciating headache. The test — only expected to take about 45 minutes — now approached the two-hour mark. “They had to have found something,” Tiffany said as her panic rose. “I know they did.”
About 10 days earlier, Michael had gotten sick, vomiting so intensely that he began throwing up blood. The 6-year-old had spent a week in a local hospital with a suspected case of norovirus before being sent home. But then he’d developed a headache that wouldn’t clear up. Thinking he might have a migraine, the family returned to the same hospital in Connecticut. But now they wondered if more than a migraine was in play.
It’s not often that parents breathe a sigh of relief when their child is diagnosed with a chronic, potentially debilitating condition. But that sense of peace is just what Paula and Scott Hurd felt when they were told that their son, Calvin, had a rare movement disorder. “We were so happy to finally understand what was happening,” says Paula. …
Seven-month-old Charlotte Bent is hitting all of her developmental milestones — smiling, laughing, playing peek-a-boo, bearing weight on her legs. Her parents, Jennifer and Keith, are overjoyed.
“It’s a complete 180-degree turn from where we thought we would be this time last year,” says Jennifer.
After struggling to conceive their second child, the couple was thrilled when Jennifer became pregnant. The results of genetic testing were normal and confirmed they would be welcoming a daughter in April.
Jennifer felt the baby’s first kicks on Nov. 23, 2015.
The next day, she was scheduled for an anatomy scan. “At first, everything seemed normal,” recalls Jennifer. But as the obstetrician was helping her from the exam table, he looked at Jennifer. “I have some concerns,” he told her.
“My heart dropped,” she says. Joy turned to devastation.
“I think your baby is missing part of her brain,” the obstetrician said. …
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. …