Williams Syndrome Clinic: Texas Children’s Hospital Provides Specialized Care at One of Only 10 Williams Syndrome Clinics in the Nation
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Jimmy was 2 years old when he was diagnosed with Williams syndrome. A happy, energetic boy from a small town in western Illinois, he had a heart condition and signs of developmental delay. His family didn’t know what was wrong.
“The narrowing in Jimmy’s heart just continued to get worse and worse throughout childhood,” recalls his brother, Ben Jacob, Director of the Williams Syndrome Clinic at Texas Children’s Hospital and Instructor at Baylor College of Medicine. “Prior to surgery, his heart murmur was so loud and harsh that he considered it his ‘kitty purr.’ Heart problems are very common with Williams syndrome — ultimately, that’s what led to Jimmy’s diagnosis.”
Williams syndrome, also known as Williams-Beuren Syndrome or WBS, is a genetic condition that affects the 7th chromosome. A multisystem disorder that influences nearly every system in the body, it is very rare, occurring in about 1 in every 10,000 births.
Symptoms range in severity and can include intellectual disability and cardiovascular abnormalities. In particular, challenges with visual-spatial tasks, such as drawing, are common (while verbal skills remain relatively unaffected).
Distinctive facial features, such as full lips, widely spaced teeth and fullness around the eyes, are also prevalent. In addition, people with Williams syndrome are known to have gregarious, social personalities.
“There is a very unique profile that goes along with Williams syndrome,” he explains.
“Like Jimbo — that’s his favorite nickname — people with Williams syndrome are highly sociable and talkative, engaging with strangers without hesitation.
“Everybody is Jimmy’s friend, essentially — he wants to talk to everyone. Which,” he adds, “can present its own challenges as far as safety is concerned.”
At first, Ben didn’t fully understand what it meant for his brother to be diagnosed with Williams syndrome.
“Jimmy is such a happy, fun-loving person,” he said. “He was always by my side. He’s my younger brother and I knew I had to look out for him, but his condition didn’t fully sink in until his heart surgery.”
When Jimmy was 10 years old, he needed open-heart surgery.
“I was 14 at the time,” recalls Ben. “The realization that they would have to stop his heart and rely on a machine to pump and oxygenate his blood was when I realized how profound and serious his condition was.
“That’s when I knew — I wanted to devote my life to helping others like Jimmy. Now, over 20 years later, it’s my tremendous honor and privilege to serve as the Director of the Williams Syndrome Clinic at Texas Children’s Hospital.”
Common features of Williams syndrome
Several heart conditions are common in Williams syndrome. They may be very mild and never require intervention, or they can be severe enough to necessitate surgery in the early years of life.
Heart conditions associated with Williams syndrome include:
Supravalvar aortic stenosis: narrowing of the large blood vessel that carries blood from the heart to the rest of the body.
Supravalvar pulmonary stenosis: narrowing of the large blood vessel that carries blood from the heart to the lungs.
Coronary artery narrowing: narrowing of the smaller blood vessels that supply the heart muscle with blood and oxygen.
Many organ systems are involved in Williams syndrome, which is why our clinic is staffed by a multidisciplinary team of experts.
Other features commonly associated with Williams syndrome include:
“Williams Syndrome affects so many different parts of the body,” says Ben.
“That’s why collaboration among a team of experts is so important when treating it. At Texas Children’s, we have cardiac specialists, genetic counselors and specialists, renal and urology specialists and hypertension specialists, as well as developmental pediatrics specialists to help with behavioral health issues.
“It truly takes a team to provide these patients with the care they so desperately need.”
The Williams Syndrome Clinic at Texas Children’s Hospital is one of the few centers of excellence within the Williams Syndrome Clinical Consortium and is among only 10 multidisciplinary clinics in the nation.
Located within Texas Children’s Heart Center and primarily staffed by the Cardiovascular Genetics Program team, Texas Children’s provides world-class subspecialty care and seeks to serve as a lifelong medical home for patients living with Williams syndrome.
“You could say this clinic is a passion project,” shares Ben. “At Texas Children’s, cardiology sees more patients with Williams syndrome than any other specialty — since heart disease is a frequent symptom of Williams syndrome — and so, around 2020, they asked me to create a dedicated clinic within the Texas Children’s Heart Center, and the clinic has grown exponentially ever since.
“Currently, our clinic is seeing about 70 patients — patients from all over the country.”
The Williams Syndrome Clinic at Texas Children’s is enrolling patients in the Collaborative Registry for Williams Syndrome — a national registry run by the Williams Syndrome Association to share data across institutions and advance ongoing research.
“We’re feeding information from a clinical side and powering research studies,” says Ben. “I’m so proud of our entire team. Our goal is to make a life-changing difference and create a healthier future for patients with Williams syndrome—patients like Jimmy.”
Ben says that another goal is to raise awareness. “When Jimmy was diagnosed, my parents didn’t know where to turn,” he says.
“I really want to make information about Williams syndrome and resources for families more available than it was then.
For families to be able to connect with other families and find a community of support — there’s just so much value in that.”
Learn more about the Williams Syndrome Clinic at Texas Children’s Hospital. Call 832-824-2728 to speak with our nurse coordinator, who can answer questions and connect you with available subspecialists.