Characteristics caused by a genetic defect are a mixed bag that makes life difficult.

July 22, 2002

By TERI SFORZA
The Orange County Register

LONG BEACH -- The beat began, thump- thump-thump, and it was like an electric shock shot through the elfin-faced crowd. Immediately they started shimmying, grooving, hopping and bopping, squealing with joy in a stampede for the dance floor.

"This is my favorite part," said Heidi Comfort, 14, of Fullerton. "The dancing!"

More than 1,000 people from across America descended on the Long Beach Hyatt for the Williams Syndrome Association's biannual conference, which ended Sunday. It was a chance for Heidi, and hundreds of others with this rare genetic disorder, to cut loose and commune with those who really understand them.

"It's a gene that's missing," Heidi said. "We're friendly, and we talk a lot."

Each person with Williams syndrome is actually missing about 20 genes from Chromosome 7. It occurs once in every 20,000 births, and the result is a fascinating mix of profound ability and disability. Scientists are studying Williams for clues to how the brain works and how deeply behavior and personality are rooted in genetics.

Williams people have great strengths. They're as curious, exuberant and gregarious as door-to-door salesmen are. They're extremely empathetic and sensitive to the emotions of others. They have strong vocabularies, remarkable memories and a mysteriously intense appreciation of music.

But they also have great deficits. They struggle with math, with following directions to the restroom, with most anything that requires them to understand the orientation of things in space. A missing gene is for elastin, the protein that lets tissue stretch, so heart and connective-tissue disorders are common."I would like people to rethink their ideas about disability," said Heidi's mother, Carol Comfort, a co-chairwoman of the conference. "With Williams syndrome, we see there is very significant intelligence - language, music - but people tend to focus on what the kids can't do, not what they can do.

"Heidi has said things like, 'Why do I have Williams syndrome? Can't they just put my gene back?' '' Comfort said. "It's hard. They're very aware. She asks why she's different, why kids tease her. In many ways, they're very smart and very verbal; they can put words to what a lot of people with disabilities go through but can't articulate."

Fourteen Orange County families attended the conference. For Judy Dunn of Huntington Beach, it was the first time she had ever seen so many Williams people - and they all looked eerily like her daughter, Samantha, 11. "It's been mind-boggling to me," she said. "They are the most loving kids you could ever meet."

Lecia Walker of Huntington Beach helped recruit more than 200 volunteers from the Church of Jesus Christ of Latter-day Saints to help out at the conference. Walker's daughter, Sarah, 4, has Williams.

Katherine Musch, 27, is a rare Williams adult who lives on her own, with a roommate to keep an eye on her.

"Oh, I love it!" she said, doling out hugs. "I was scared at first, but it's great. I go to work Monday through Friday, nine to three. I volunteer at the library, at a homeless kitchen, at a youth center, at a store. I love it, but sometimes I think about a paid job. I would love to have one someday."

Katherine's mother, Polly Musch of Santa Ana, encourages Williams parents to help their children strike out on their own. She cites the Supreme Court's decision in Olmstead vs. L.C. that challenged governments to develop more opportunities for people with disabilities.

"We wanted to take Katherine to the height of her ability," Musch said. "I realized that, with the proper supports, she could live on her own. I believe that everyone wants their own home, everyone wants love, everyone wants a paying job. And now every state is required to help build services so folks like ours can live in the community.