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 in children with Williams syndrome called supravalvular aortic stenosis — a narrowing of the aorta or large blood vessel that carries blood from the heart to the rest of the body. The operation took place in New York over two excruciatingly long days.
A second opinion from Boston Children’s Hospital
Once Chloe had stabilized, Johanna and Marshall drove from their home in Connecticut to Boston to meet with Pober and the cardiologist she recommended at Boston Children’s Hospital, Dr. Leslie Smoot.
Almost immediately after that trip, the Kievs switched all of Chloe’s care to the Williams syndrome clinic at Boston Children’s, which Smoot says is structured to remain attentive to the physical, developmental and psychosocial challenges that individuals with Williams syndrome may encounter over their lifetimes. “We liked the convenience of our New York doctors, but we found the care at Boston Children’s to be more easily accessible, making the experience better overall,” says Johanna. Adds Marshall, “We’re very confident in the team.”
In addition to being followed closely by Smoot, at various stages of development, Chloe has seen a gastroenterologist, neurologist and nephrologist, and most recently underwent cardiac catheterization and stent placement by Dr. James Lock to enlarge a narrowing in her aorta. “Everything is very coordinated through the Williams syndrome clinic. They can set us up with the right specialist, and that person already knows so much about Chloe because they have great communication between the different specialties,” says Johanna.
Looking for more answers
Today, Chloe’s days are full of family and friends and lots of smiles. With a steady stream of support from her parents and intervention at school, Chloe has made huge strides developmentally. She enjoys competing in basketball and swimming at the Special Olympics and riding horses — all activities that promote core strength and coordination — a kind of “real world” physical therapy, explains Johanna.
Chloe holds her own between her adoring brothers, Eddie (14) and Ben (6), and does what most fifth graders do these days — begs her parents for her own phone.
But her future is unclear.
“We don’t know what’s ahead,” says Johanna. “Things could stay the same, get better or worse — there’s just such a wide range of outcomes possible. That’s why we want to help support a better understanding of cardiovascular issues in Williams syndrome.”
In collaboration with the WSA, Johanna and Marshall recently put together a joint donation to Boston Children’s that will help advance research on Williams syndrome. Boston Children’s researchers, including cardiovascular geneticist Dr. Amy Roberts, will use the gift to gain a deeper understanding of the condition and its long-term outcomes, as well as improve care in the near term. “The doctors at Boston Children’s are some of the most incredible people we’ve ever met,” says Marshall. “They are genuinely interested in helping us move the needle.”
He admits that like many families facing their child’s diagnosis, he and Johanna felt helpless at first.
“But then you start to understand the condition, and you feel better. And then you meet the right people who are willing and able to do something to help, and you realize that if everyone bands together, we can make a difference.”
It all starts with a smile.