Courtney Whitmore was born 22 years ago with a cleft palate, two clubbed feet and fists that were so tightly clenched they couldn’t be pulled apart. Since Courtney was an otherwise happy and healthy baby, neither her parents nor her doctor saw cause to be concerned about these seemingly unrelated conditions. What they didn’t realize was that these were the first clues to a genetic puzzle that would take ten years to unravel.
The next clue came at age 3. …
Jeffrey Marotz and his family may have driven to Boston Children’s Hospital from their home in New York, but it was really the boy’s feet that brought him here.
Born with severe spina bifida, a complex birth defect that affects the development of a child’s spinal cord, spine and brain, Jeffrey had also been diagnosed with clubfoot, a related orthopedic condition that causes the foot to twist unnaturally.
Previous surgeries hadn’t worked and the braces that had been custom made for then three-year-old Jeffrey didn’t fit correctly. “Nothing was working,” says his mom, Michelle. …
Sporting a Superman sock on her left foot and Batman on her right, Bella Burton, a 12-year-old from Woburn, Massachusetts, listens intently to her orthopedic surgeon Dr. Lawrence Karlin. Lots of people mix up their socks, he tells her. “You should really stand out from the crowd. Wear unmatched shoes.”
She chuckles and pretends to ponder his advice. Ultimately, Bella decides against Karlin’s fashion tips.
The exchange is typical of Bella and Karlin, says her mother Rachel.
The pair first met in 2007 at the Boston Children’s Hospital Orthopedic Center when Bella was just a toddler. Genetic experts suspected Bella had Morquio syndrome, a rare birth defect whose symptoms include abnormal bone and spine development and possible heart and vision problems.
As Bella underwent genetic testing, Rachel and her husband Ed faced a flutter of uncertainty. “We were so new to Boston Children’s, and Bella’s diagnosis wasn’t confirmed.”
Genetic testing confirmed Bella did have Morquio, which meant she needed a slew of additional specialists — in clinical genetics, pulmonology, cardiology, neurology and more.
It seems like people have been looking at our son Phoenix — without seeing him, without talking to him — since before he was born.
When I was pregnant and the ultrasound showed severe spina bifida and kyphosis (an excessive forward curve in his spine), the specialist told us he had never seen a spine like Phoenix’s. He wasn’t sure how it could be treated and recommended terminating my pregnancy.
My husband Mike and I chose not to.
Phoenix was born on June 29, 2009, with a lesion at the base of his spine. His spinal cord and nerves were exposed, so his first surgery was a skin graft to cover the lesion. On top of spina bifida and kyphosis, our son was diagnosed with clubfoot and hydrocephalus.
It felt like Phoenix was a patient before he was baby. He had 16 specialists — an orthopedic surgeon, neurosurgeon, ophthalmologist, physical therapist and more.
Phoenix’s appointments gobbled up 40 hours a week. One doctor would remind me to stretch his legs with every appointment change; another to patch his eye.
He didn’t get to be baby, and the back and forth among all of Phoenix’s specialists left me feeling insecure and unsettled as a mother. Was I doing anything right?
Doctor after doctor talked at me. Every visit was a constant checklist.