All signs were positive when Sofia Wylie was born: normal term delivery, great Apgar scores. “But at her two-month checkup with the pediatrician, she wasn’t lifting her head well, and her reflexes were weak,” says her mother Natalia. “She was like a rag doll.”
The pediatrician referred the New Hampshire family to a neurologist. Sofia received genetic testing, and the news wasn’t good: she had spinal muscular atrophy (SMA), a rare paralyzing disease. Even worse, she had the most severe form, SMA Type 1, which starts in infancy. Usually babies with this form, also known as Werdnig-Hoffmann Disease, rapidly lose muscle strength. Ninety percent die by the age of 2 years from respiratory failure unless they receive aggressive and invasive respiratory support.
“The neurologist said, ‘I’m very sorry, but this is a terminal disease. Enjoy the little time you have together,’” recalls Natalia.
Sometimes called a baby version of ALS, SMA is the number one genetic cause of infant mortality. But just before Christmas, the Food and Drug Administration (FDA) approved a new drug called Spinraza (nusinersen) that has given Sofia another chance. …
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. …
Diba Jalalzadeh, now 12, paces energetically around the waiting room. She has been coming to Boston Children’s Hospital since she was a baby. Today she is seeing her developmental medicine specialist, Dr. Carolyn Bridgemohan.
But she’s just one of the many specialists Diba sees at Children’s.“We touch on many departments,” says Monir, Diba’s mother.
Diba was diagnosed with Crouzon syndrome when she was 10 months old. She has had several surgeries to manage the effects of her craniofacial syndrome on her skull, eye muscles, tonsils and adenoids. She currently wears a brace on her chest to counter kyphosis (her shoulders’ tendency to cave in).
Though she’s never gotten really sick, Diba is a complex patient. Unrelated to her syndrome, she also meets criteria for autism spectrum disorder, so procedures most kids will put up with can potentially make her very anxious.
Blood pressure measurement? “She doesn’t enjoy that at all, but she tries to get through it.”
Sleep study? “She had a very hard time sleeping through the night but she managed to sleep a little,” says Monir. “If you ask her to do it again, she says, ‘No I can’t even try it!'”
Eye patching for an exam? “I won’t do it.” (She finally agreed to it at the end of the visit.)
Even measuring Diba’s head circumference can be a challenge.
Meet Antonio, a 14-year-old who depends on shunts to drain excess fluid in his head. The shunts are prone to failure, and detecting failure and identifying which shunt has failed is a tenuous process that requires high-tech imaging or surgery. That’ s one of the reasons why Antonio and his mother Joanne were happy to participate in a study of ShuntCheck, a device designed to detect shunt failure developed by his neurosurgeon Dr. Joseph Madsen. Read more about Antonio, Madsen and ShuntCheck on our sister blog, Vector.