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.