Dawn Cavanaugh carefully and calmly navigates the roads of Shrewsbury, Massachusetts, with a bus full of kids, bringing them to school and safely back home again at the end of each day. As a bus driver, it’s the methodical beat of her everyday life.
Last year, as a mom, she was navigating a very different journey, one in which she did everything in her power — including giving a portion of her liver — to bring her daughter Lydia home safely.
“As far as I’m concerned, my role in this life is to care for my kids,” says Dawn. “And if I have to give a part of myself to do that, that’s all there is to it.”
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. …
For some families in the waiting room on the day of the Apert syndrome clinic, it’s a reunion. For others, it’s a revelation. Coming to Boston Children’s Hospital from as far away as China, some have never met another child with Apert syndrome. Before long, parents and kids of all ages and ethnicities are taking group selfies as the younger children run around and play.
“These kids have the brightest smiles, they’re very resilient,” says Tambra Milot, mother of 3-year-old Madilynn.
Each year, the clinic sees about 50 children with Apert syndrome, a rare genetic disorder in which the skull, face, hands and feet develop abnormally. The clinic is held at least twice a month, bringing together the specialists each child needs to see. Today, families are also here for the weekend, to exchange information and learn about the latest research at Boston Children’s 2016 Apert Family Symposium. …