Thursday, June
29, 2000
Williams syndrome: Families of those with rare disorder come together for picnic
By Cheryl Allen
STAFF WRITER
callen@greenvillenews.com
Amy Lascurain had baked a teddy bear pound cake and given it a bib
of white icing. She carefully wrapped gifts in brightly colored
paper and then gathered with other smiling family members around the
table to sing "Happy Birthday" to her son.
Everything was set, including her expectations.
But no amount of coaxing, not even the wrapped packages, could provoke a response from Andrew, who marked his first birthday that Sunday. His mom would have loved to see him smear cake on his face or maybe tug at the wrapping paper. Even a smirk would have been nice. Anything.
But the blond child sat quietly in his high chair, his wide, ocean-blue eyes staring blankly.
"He didn't talk," Lascurain recalled. "He was very somber."
Later that afternoon while the children napped, a disappointed Lascurain retreated to her bed and cried. Her tears confirmed what she already knew. The Taylors mother of three had heard the doctor's diagnosis several days earlier, but the reality didn't sink in until the party.
Andrew has Williams syndrome, a rare and incurable genetic disorder that causes developmental delays, learning disabilities and a variety of medical problems. Children affected usually reach milestones such as walking, talking and toilet training later than the average child.
Although the disorder has been understood since the early 1960s, a genetic test developed in the last decade has made its diagnosis highly accurate. And a national support group, the Williams Syndrome Association, whose South Carolina members gathered in Greenville recently, offers parents emotional support, research information and hope in caring for these very special children. Estimated to occur in one of every 20,000 births nationwide, the disorder affects some 40 families in South Carolina, according to Cathyrn Mindel of Ladson, Southeast regional director for WSA.
In cases like Andrew's, symptoms show up early. When Andrew was 2 months old, doctors detected a heart murmur. At 6 months, he was diagnosed with supravalvular aortic stenos, or narrowing of the aorta, a common symptom for people with Williams syndrome.
A missing piece of chromosome No. 7 is the culprit in Williams syndrome, said Gail Stapleton, a genetic consultant in the Greenville office of the Greenwood Genetic Center. Children with symptoms are usually referred to a clinical geneticist, and a diagnosis can then be confirmed by a blood test, Stapleton said. The test, called FISH, was developed by researchers studying family trees.
Since the disorder was recognized in 1961, ongoing research has made improvements in treatment. A ninth WSA convention, scheduled in mid-July in Michigan, will involve researchers from around the world in 17 clinical studies, said Terry Monkaba, executive director for WSA, which is based in Michigan.
"There's still a lot to find out and there's a lot more interest than there has been," she said. "This is our most international conference ever."
She points out that although it's genetic, the disorder is not inherited. "I know a lot of parents who do blame themselves," Monkaba said. But they shouldn't since anyone can be affected, regardless of gender or race, she said.
Those affected with Williams syndrome have widely ranging IQs.
"They have mild to severe learning disabilities and areas of average intelligence," Monkaba said. "They are not mentally retarded, but that's what was thought at one time."
Other medical problems associated with the disorder include joint stiffness, elevated blood calcium levels that can cause extreme irritability, abnormal shape or appearance of teeth and low weight gain. Facial characteristics that become more apparent with age include puffiness around the eyes, wide mouth and full lips.
Lascurain said Andrew's diagnosis was actually a relief. "We knew that something was wrong."
He was 9 months old before he sat up. He didn't start to walk until he was 18 months, and he talked at 3 years.
Their knowledge, however, was not enough comfort in the beginning.
"This was new territory for us," she said. "So this was scary. At times, I wish I could have taken it in stride," she said. "There has been frustration. I had to change my expectations."
Andrew, now 10, has made great strides. He reads on a second-grade level and continues to increase his verbal skills. His personality is anything but somber. He's a talkative boy who loves dinosaurs and computer games and wants to become a doctor, one with a good bedside manner.
"I want to be a nice doctor," he said.
Andrew has a wonderful sense of humor and a strong desire to learn, said John McCormick, an administrator at Hidden Treasures, a Greenville school for children with special educational needs, where Andrew attends.
"He makes steady progress, plods along and lets nothing discourage him," McCormick said.
Some of Lascurain's fear has dissolved over the years as she has met others who cope with Williams syndrome. The Lascurains were among several families who recently attended a picnic in Greenville for families affected by the disorder.
They shared stories, along with hot dogs, cheeseburgers and sodas, during a sunny afternoon in McPherson Park. Dave Lascurain, Andrew's father, said the picnic is a great way for families to become more comfortable with each other.
"It provides an informal setting," he said. "And that helps a lot."
Sara and Howard Burgess of Laurens relaxed on benches in the shade of a picnic shelter. The couple came with their 28-year-old daughter, Sherry, who has Williams syndrome. Mrs. Burgess, a cafeteria manager at Laurens Junior High School, has attended similar picnics and conferences in the past in Florida, Georgia and Columbia.
"Usually you learn something new," she said.
The Greenville picnic was sponsored by the Southeast regional chapter of the Williams Syndrome Association. The national chapter was founded in 1982 by a handful of families in San Diego. There are approximately 4,000 families on its membership list.
The goal of the nonprofit association is to increase public awareness about Williams syndrome by educating medical and other professionals. The association also publishes a national newsletter, provides emotional support and research information for families and organizes special programs such as a music camp, workshops and conventions.
Despite medical and developmental limitations, many people with Williams syndrome can live long and active lives. They are also usually sociable and have upbeat personalities. Many possess special talents or abilities.
Sherry, who works at an adult training center for the disabled, greets people with her friendly hazel eyes and warm smile. She also has sensitive hearing and can hear sirens, for instance, farther away and more quickly than the average person, her mother said.
Many people with Williams syndrome also seem to have a passion for music. Monkaba's son Ben, for instance, is a red-haired, blue-eyed 14-year-old who, according to his mom, can play the drums like nobody's business. He has even performed with professional bands for local charities.
"But he cannot tie his shoe or manipulate a button," she said.
Whether he pursues music or another job, she added, Ben will find his place in society.
"He's just got this terrific spirit," Monkaba said.
Just like others with the disorder, he has a lot to offer. "They're special and they have a quality of life."