Williams Syndrome Grows in Awareness, Research

" Williams Syndrome is a rare genetic condition - so rare, in fact, that few people have ever heard of it."

So began an ABCNews.com article from June 9, 2011, a day before "20/20? ran a comprehensive story on Williams Syndrome. Now, partly because of these stories, awareness of the condition has increased dramatically, creating various benefits for those with Williams Syndrome as well as their families and doctors.

"Awareness has skyrocketed, for a relatively rare syndrome," said Terry Monkaba, executive director of the Williams Syndrome Association (WSA). Affecting one in 7,500 newborns, Williams Syndrome (WS) causes a combination of ebullience, empathy, fearlessness, linguistic and musical talent, elfin features, heart conditions and bad teeth.

After the "20/20? story last June, Williams Syndrome was in the top 10 Google trends for three straight days, Monkaba said. The website averaged more than 1,000 hits per day for a month after the broadcast, she added. On an average day before that, it would get 200.

In addition, WSA fundraising is up 35 percent over last year, Monkaba said. The scholarship budget for WSA summer camps has jumped to $135,000 from $35,000 two years ago. The number of camp weeks has grown from four to eight over that period.

With the network attention and awareness has come credibility. "To me, that's the biggest piece," said Monkaba.

"If we can say, 'As recently seen on '20/20,' people tend to pay more attention," Monkaba said. "Science editors have gotten more interested, so general media attention on WS went from slim to 25 touches." Monkaba reckoned WSA had received nearly as much media attention in the past year as in the previous 29.

The most immediate impact has occurred in the medical community itself.

"It's pieces like '20/20' 's that make all the difference," Monkaba said. "Doctors see it, they go to the website, get interested." Doctors' and the public's heightened awareness has caused more people to be diagnosed with Williams Syndrome, here and abroad, and at younger ages, she said.

In 1986, when Monkaba's son with WS was a child, people with WS weren't diagnosed until the age of 8. Now most kids with WS are diagnosed at around 4, she said.

Last fall the National Institute of Child Health and Human Development awarded a $5.5 million grant to scientists from several institutions and disciplines to study Williams Syndrome to learn how genes govern behavior. The study could produce drugs and therapies for those with Williams Syndrome. It could also help those with more-common disorders like autism (which affects between one in 150 and one in 500 newborns) by illuminating how genetic differences affect behavior, Monkaba said.

"Our 15,000 kids may hold the key to helping millions with autism," Monkaba said. "What a great legacy!"

Watch a preview below, and watch the full story Saturday on "My Extreme Affliction," a "20/20? special, at 9 p.m. ET.