Rare Children Who Bring Joy

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Rare Children Who Bring Joy
One symptom of their syndrome is 'acute friendliness'

YES, THEIR CHILDREN have what medical professionals call a "syndrome." But don't shed any tears for three Connecticut families dealing with Williams syndrome, a rare genetic disorder marked by physical and cognitive developmental problems in children it afflicts.

For the LeBeau, Hoskins and Bernat families, this rare problem - which occurs in one in 20,000 births - has brought them strength and togetherness, as well as an appreciation for life itself.

In a fluke that belies any statistical rationale, four children in the Killingly, Conn., school system are known to have Williams syndrome.

Three of the families regularly get together or talk on the phone. Through their bond, they've learned to appreciate and accept the syndrome rather than pity the shortcomings it creates.

One of the symptoms, acute friendliness, has parents beaming with pride -a twist understandable only when one meets a Williams syndrome child.

Pequot Circle resident Karen LeBeau sums it up best. Her daughter, Ashley, 6, has Williams and is a kindergartner at Killingly Central School.

"What a wonderful world this would be if we all had a little Williams syndrome in all of us," she says. "They are all just so loving." As LeBeau talks, her daughter taps away at the piano, laughing and enjoying some cookies.

She pauses to hand out giant Lego building blocks, urging visitors to play.

The families want their community to be aware of Williams syndrome. Through awareness, they say, the syndrome can be understood, and through understanding comes tolerance.

Children with Williams syndrome often have several physical symptoms, including heart defects, hyperacusis - or sensitive hearing - hernias, kidney problems and dental abnormalities.

They also have some degree of intellectual handicap and may experience development delays.

Medically speaking, Williams syndrome is a relatively new diagnosis, often lending itself to misunderstandings. In fact, so much is not known about the disorder that estimates of the number of Williams sufferers range from 5,000 to 25,000.

The syndrome's roots go back to 1961, when New Zealand cardiologist J.S.P.

Williams noticed similarities between four of his patients with mild forms of mental retardation and certain genetic heart defects.

In addition, Williams noticed what the medical community calls "elfin" facial features, one of the tip-offs pediatricians can use in diagnosing Williams syndrome.

In the end, however, complicated genetic blood tests are required for a positive diagnosis, which, when combined with the mystery surrounding the syndrome, leads to shock and disbelief for families.

Killingly High School teacher Rick Hoskins remembers when his 10-year-old son, Sean, the youngest of four siblings, was diagnosed with Williams syndrome as an infant.

Hoskins said an earache prompted a visit to their doctor, who immediately noticed some other problems with Sean.

"We went in looking for a diagnosis of an earache and came out with a diagnosis of Williams syndrome," Hoskins said. "That was not what we expected." Over the years, though, Hoskins and his wife, Claudia, have become experts, working actively with the Williams Syndrome Association, a national support group with 2,000 family members.

Claudia Hoskins is the organization's Connecticut representative.

LeBeau said the group and the informal Killingly Williams syndrome network have proven vital to her.

"I bawled my eyes out," she said of the time when Ashley - the eldest of her two children - was diagnosed. "I only heard the word 'syndrome,' and it was like a death. But then you say, 'I've really got to do something about it.' I was the proudest mom in the world, but I was the most depressed mom in the world at the same time." Through inclusion practices, modern education is better at accommodating these children than it used to be. Inclusion is when special-needs children spend part of their day away from special-education classes and in normal classrooms.

For kindergarten teacher Kerri Angelo - Ashley LeBeau's teacher and Sean Hoskins' former teacher - that has meant new challenges.

For the more technical aspects of school, Ashley attends special-education classes. Meanwhile, her socialization skills are greatly enhanced by spending time with children her age.

"So far, Ashley is fitting in with the kindergartners," Angelo said. "But I'm sure that as the academics become more difficult she will need more academic support." While the future for Williams syndrome patients is still being written, those with the disorder can look forward to long, healthy lives as long as their medical problems - such as heart defects - are addressed.

In fact, those with Williams often live in group homes, hold jobs and lead happy, productive lives. Some have married.

As they grow up, parents say, Williams syndrome children are responsible for a great deal of joy in their families' lives. And, they say, their acute friendliness is contagious.

"The kids are not very difficult to take care of," Rick Hoskins said. "They are happy and healthy." And, the families agree, the syndrome has brought them together, providing companionship and support for common concerns.

"I have become more tolerant," said Peggy Bernat. "It's much easier than being alone. It's made me a much stronger person." "It's helped to have a balanced perspective," said Claudia Hoskins, who added that the families often don't discuss Williams syndrome issues, but just normal life events.

Copyright © Newsday, Inc. Produced by Newsday Electronic Publishing.

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For additional information about Williams syndrome, please send an e-mail to hlenhoff@uci.edu.
For contact with other Williams syndrome families --
In the USA: please send e-mail to info@williams-syndrome.org
Outside the USA: please visit our International Williams Syndrome Support Groups page for contact information.
Copyright © 2002 Williams Syndrome Foundation
Last modified: April 15, 2007