'Cat Cry' Syndrome Often Undiagnosed

Oct. 13, 2008 — -- In 1988, Katie Castillo was born with the cord around her neck, so when she uttered her first cry -- a high-pitched, catlike shriek -- the girl's mother thought her baby's larynx had been bruised.

As a first-time mother who'd had a normal pregnancy, Laura Castillo of Lakewood, Calif., never suspected anything more serious.

"When she cried, I mentioned, 'She sounds just like a kitten,'" she told ABCNews.com. "She meowed and it wasn't a very strong cry."

Nurses wrote down Castillo's comments, also noting the baby's head was small and her reflexes were slow. Three hours later, suspicious doctors ordered genetic testing.

Katie was diagnosed with "cri du chat," which in French means "cry of the cat," an array of physical and mental impairments caused by a deletion on the short arm (p) of the fifth chromosome (5) -- also called 5p- (five-p-minus) syndrome.

"The first thing I did was cry," said Castillo, a school athletic director and now director of the 5p- Society, which provides support and education to families whose children have cri du chat syndrome.

Years ago, these children were institutionalized, but today, with intervention programs, they can lead productive lives and have a normal life expectancy.

Cri du chat syndrome -- which strikes about one in 50,000 babies, about 50 to 60 babies a year in the United States -- is most often detected in infancy because of its characteristic "high, shrill, mewing, kittenlike cry," according to the National Organization for Rare Diseases.

The condition was in the spotlight last week when Kentucky mother Hope Orwick killed herself after she stabbed to death her two daughters, one of whom had cri du chat.

Mother Stabbed Daughter With Cri du Chat

Orwick, and her late husband Christopher, who committed suicide before the Oct. 7 murder, had been "very supportive" of the 5p- Society, according to Castillo.

"I think it's difficult to have a child with a disability," said Castillo, who had met Orwick at a conference. "There's a lot to go through. But I can't imagine [cri du chat] had anything to do with it."

Children with the syndrome have difficulty with speech and may express themselves with sign language or gestures. Nearly all have poor muscle tone and can experience feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant intellectual impairment.

But with attention and support, these children, who have better "receptive" than "expressive" intelligence, enrich the lives of their families, according to Castillo.

"They have a good sense of humor and kind of get it," she said. "They are very loving and want to be part of everything."

Cri du Chat 'Nothing to Do' With Murder

At 20, Katie is "high-functioning," able to read at a fifth-grade level and enjoys animals, knock-knock jokes and comedy films. Like others, she has lost the distinctive "cat cry," but still speaks in a high-pitched voice that can be difficult to understand and has difficulty with her fine-motor skills.

Katie's progress might not have been possible had Castillo, 48, not joined the 5p- Society in 1996. "For the first six years, I thought, 'I can handle this, I can do this without talking to others.'"

But at her first conference, she found an "instant connection" with others. "Gosh, we are all alike," she said. "We have the same feelings and attitudes and want the same for our children."

One of those other parents was Jolene Towers of Beavercreek, Ohio, who is president of the 5p- Society board and whose daughter Taylor struggles with the same communication problems.

Cat Cry Becomes 'High-Pitched Whine'

At 12, Taylor still retains a "high-pitched whine," according to her mother. "But we get used to it."

Taylor was born with wide-spread eyes and a small jaw and when she let out her first cry, the obstetrician said, "What was that?"

"I thought it was kind of cute," said Towers.

Once, when Taylor had a "blow up" in a store, the manager allowed Towers to go into the back and change the baby. But soon, "the workers came running in because they thought a cat had gotten in to the store."

Today, Taylor walks and talks, using some sign language and a picture book to let her family know her needs. She has even joined a special needs cheerleading team.

"She has typical friends and does things with them," said Towers, 34, a stay-at-home mother. "It's good for her to be around them to model their behavior."

Having three younger siblings helps, too. Taylor is nearly 90 percent potty trained and her 2-year-old brother is going through the same thing. "It's interesting to watch," she said. "They remind each other."

Having a sister with cri du chat helps them, too, said Towers. "She has taught her brothers to be tolerant and accepting, which is great for our family. But she is definitely challenging at times."

Early diagnosis and intervention is important for children like Katie and Taylor, according to Dr. Shashikant Kulkarni, director of cyto-genetics at St. Louis Children's Hospital and Washington University School of Medicine.

"Through education and rehabilitation, their social adjustment can be considerably improved," he told ABCNews.com.

The larger the chromosomal deletion, the more severe disabilities. New diagnostic tools allow geneticists can pick up even the smallest chromosomal defect so children can be helped.

About 10 percent of the time parents are carriers of the syndrome, which can also be detected in prenatal testing, like an amniocentisis.

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."

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."