'Cat Cry' Syndrome Often Undiagnosed

Children Thrive with Special Education, Loving Homes

About 900 families are registered with the 5-p Society and many attend their annual conference to learn more about the syndrome and connect with others.

"Even the mildest cases have some intellectual disability," said Kline, who works closely with the support network. "It's a global delay with communication being the weakest. In severe cases, they are unable to ambulate or talk or communicate."

Still, many of these children, with special education and loving homes, are thriving.

Micah Hoernig of Monroe, N.Y., is proud of the progress his 6-year-old son Isaac has made, even though he is still at the toddler phase of development.

"He can walk holding your hand," Hoernig told ABCNews.com. "He takes 20 or 30 independent steps, but he doesn't quite trust his balance."

The Hoernigs' doctor knew right away that their son had cri du chat and ordered testing, but the couple waited two weeks for the final diagnosis.

"My mother-in-law, who used to be a nurse, knew from his cry," said the 32-year-old architect's draftsman. "He sounded like a cat. But she didn't say anything. It was hard enough with the first child."

Hope for Independence

When they the results came back, "it was pretty devastating," said Hoernig. "It hits you like a hammer. You're not sure what to expect."

But Isaac makes friends every where he goes. "He's pretty much a character," said Hoernig. "People know who he is immediately. He's got such a happy personality that people kind of gravitate toward him."

Hoernig's hope is that Isaac will one day have the support of a group home where he can work and live without his parents.

Already, Katie Castillo is on her way to independence. She is in a transition program at the local public high school and works part-time at a retail store and volunteers at a veterans' hospital.

Like other girls her age, she loves the "cheesie" celebrity magazines, shopping for the latest clothes and going to movies. "At the comedies, she's laughing before the joke even starts," said her mother.

Soon, at 22, Katie ages out of her public school and her parents will start looking for a "group situation" where she will be "protected and watched."

Still, Castillo's biggest concerns echo those of other parents of children with special needs: "We worry about what happens when we get old."