Timothy Froio has spent his life plagued by sudden, unwanted jerky movements.
“As a baby, he’d drift off to sleep in my arms and then jump, as if he felt like he was falling,” says his mother, Cheralyn. “He would jump so much that his body would stiffen.”
At age 2, putting together Legos, Tim struggled with violent tic-like movements in his upper torso, arms, legs, neck and head. “He’d jerk and the Legos would come apart and go all over,” says Cheralyn.
The same thing happened with his beverages: they’d spill in his face and all over. Unable to control his movements, he once jabbed himself in the face with a beef teriyaki skewer. His cups had to have lids, and he couldn’t button his buttons or tie his shoes. Cheralyn had to hold him down to cut his nails.
Kids weren’t kind to Timothy, who is now 21 and also has autism spectrum disorder (ASD). Bullies would punch him to make his movements come out. He became very anxious: after the 9/11 attacks, he stopped eating for a week, thinking his food had been poisoned by terrorists.
Like many new mothers, Lyana Guzman Gutierrez was exhausted but overjoyed after giving birth to a healthy and beautiful baby boy. But within two weeks, Lyana, who lived near San Jose, Costa Rica, noticed that Marcel’s eyes and other facial features were not aligned.
Lyana’s mother urged her to bring Marcel to the pediatrician, who referred her to a local radiologist. The specialist diagnosed Marcel with craniosynostosis, a condition in which the fibrous joints or sutures between the plates of the skull fuse too early during a child’s development. This resulted in asymmetry of Marcel’s head which, if left untreated, could lead to further disfiguration, brain and skull growth issues and possible neurological complications.
Through her research, Lyana had already suspected Marcel had craniosynostosis and started exploring her options. Though the neurosurgeon in Costa Rica was willing to treat Marcel, Lyana explains, “My husband and I were looking for the best doctors and the best place in the world to treat Marcel, and we were going to do whatever it took.”
Lyana’s research led her to Boston Children’s Hospital’s website and a video of Mark Proctor, MD, vice chair of neurosurgery. “Something was telling me, you can trust this guy. He’s the one. It was a mother’s instinct.” …
Shortly before Logan Collins was born, a prenatal ultrasound suggested a possible problem with her heart. Her mother, Erika, went into labor the next day, two weeks shy of her due date. Logan was born at just 5 pounds, 5 ounces and had a weak, high-pitched cry that sounded like a cat meowing.
“When I became aware of her birth weight and heard her cry, I had a good idea something was going on, but I didn’t say anything at the time,” Erika says. She suspected Logan had the same disorder as one of her cousins. Chromosomal testing in the Division of Genetics at Boston Children’s Hospital confirmed it: Logan’s fifth chromosome had both a deletion of one piece and a duplication of another. She was diagnosed with Cri du Chat—a rare genetic disorder whose name is French for “cry of the cat.” …
Five-year-old Will DeMauvise has never been stopped by his cerebral palsy—in family videos, he swims, throws a baseball and drives a toy car. He and his parents want the same thing for him: a full life with as much independence as possible.
Injections of botulinum toxin and phenol into Will’s legs helped relax his rigid, spastic muscle and increased his range of motion. But because the injections are very painful, he needed to go under general anesthesia each time. And the effect was short-lived.
“We had to do it every three to four months, two to three times a year,” says Will’s mother Marlee. “Every time he did it he had to go under. It was heartbreaking.” …