Chloe ’s smile: Moving the needle on Williams syndrome research

“Because of your smile, you make life more beautiful.” ~ Thich Nhat Hanh Her wide, warm smiles are generous. Even strangers can’t resist smiling back. “Chloe loves people and relationships,” says her mom, Johanna. “She can completely change a person’s demeanor with one of her incredible smiles.” Now, Chloe’s powerful smile is bringing together supporters and scientists to advance research on Williams syndrome, the rare neurodevelopmental disorder she was born with 11 years ago. What is Williams syndrome? Williams syndrome is a genetic condition that affects 1 in 10,000 people worldwide. It causes a range of cardiovascular and other medical issues, as well as developmental delays, learning disabilities and distinctive facial features. Children with Williams syndrome tend to be extremely friendly and social and have an affinity towards music. Chloe’s journey from diagnosis to treatment Born in Connecticut, Chloe was diagnosed at birth. “We were very lucky that the cardiologist on call that day was very familiar with Williams syndrome, so he recognized it immediately,” says Johanna. He put Johanna and her husband, Marshall, in touch with Dr. Barbara Pober, a Boston-area geneticist who connected them to other families, and introduced them to the Williams Syndrome Association (WSA) — a great source of information and support in those early days. At only 6 weeks old, Chloe had to undergo open-heart surgery to repair a life-threatening heart defect, common...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Research and Innovation Dr. Amy Roberts Dr. James Lock Dr. Leslie Smoot Heart Center Williams syndrome Source Type: news