'Cat Cry' Syndrome Often Undiagnosed

Isaac Hoernig (seated in stroller), who has cri du chat syndrome, is just beginning to walk at age 6. He is shown here with his brother, Caleb, 5, and his parents Micah and Kim Hoernig of Monroe, N.Y.

(Courtesy of Hoernig family)

Doctors Miss 'Cat Cry' Baby Diagnosis

But the "gold standard" for diagnosis is still clinical observation at birth, said Kulkarni, and many doctors miss the first symptoms, like the "monochromatic cry," and abnormalities such as a small head or mouth, big nose, wide eyes and pointed ears.

"The incidence is so low that a general doctor can spend a whole life without coming into contact with one of those patients," said Kulkarni.

That was the case with Allison Wallace of Bellefountain, Ohio, who was not diagnosed with cri du chat until she was 2 months old.

"Her cry was so cute, like a little cat, but we didn't think anything of it as first-time parents," said her father, Nick Wallace, a customer service representative.

Neither did her doctor, and it wasn't until the baby struggled with feeding, aspirating formula and requiring a gastrointestinal tube, that genetic testing was ordered.

Wallace and his wife Angie was told Allison would never walk or talk. "They told us she will be mentally retarded, and always be in special education," said Wallace, 29, who was stunned by the unwelcome news.

First Diagnosis Was 'Bleak'

"The information was so bleak and we thought there has to be something more, something different than they are telling us," said Wallace, who sought help and today is active in the 5p- Society.

Now nearly 5, Allison is able to put phrases together and has learned to walk.

"She may not be completely understandable to the every day person, but the family understands her," he said. "She's a happy child and she has a wonderful sense of humor. She's very lovable, always coming up to people and saying, 'hi' and wanting a hug."

Allison has a brother who is 16 months younger, something that experts suggest may help both. "We've been told having a child that close in age is beneficial," he said. "Sibling rivalry is good for development."

Still, Wallace is discouraged by the lack of interest in cri du chat. When a previous employer held a charity auction, he suggested giving a donation to the 5p- Society. "They told me they'd rather have something people know more about, like cancer."

Rare disorders often get short shrift, according to Dr. Antonie Kline, director of pediatric genetics at the Harvey Institute of Genetics at Greater Baltimore Medical Center.

"All these organizations like 5p- provide such great support and they run on a shoe string," Kline told ABCNews.com. "It's hard in this day and age to get funding. Lou Gehrig's disease gets press because he was famous, but [cri du chat] gets lost in the shuffle."