Superheros, specialists and sidekicks

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. Specialty care for Morquio syndrome Karlin, however, has been the one constant, re-shaping Bella’s bones and helping her set a foundation to face an uncertain future. Morquio syndrome is a progressive condition, so Bella’s symptoms could worsen with age. Like many children with rare conditions, Bella will need multiple specialists during the course of her life. Pa...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Our Patients’ Stories Dr. Lawrence Karlin Morquio syndrome Orthopedic Center rare disease Source Type: news