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Cri du chat

Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females. more...

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Cri du chat
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Signs and symptoms

Its name, meaning cat cry in French, is from the distinctive mewing sound made by infants with the disorder. As babies, patients tend to be squirmy with a mewing cry, ascribed to abnormal laryngeal development. The cry becomes less distinctive with age. Individuals with cri du chat syndrome are often underweight at birth. The disorder is characterized by distinctive facial features, small head size (microcephaly), low birth weight, weak muscle tone (hypotonia), a round face, epicanthal folds, low set ears, strabismus, facial asymmetry and downward slanting palpebral fissures. Cardiac malformations may occur and affect the vital prognosis. The importance of the whole syndrome seems to vary depending on the amount of lost DNA material.

In terms of development and behaviour, severe mental retardation is typical. Expressive language is an area of weakness, and signing is often used. Hypersensitivity to noise is common. Also, some have autistic traits such as repetitive behaviors and obsessions with certain objects. Apparently, many enjoy pulling hair. They are often happy children, and are described as "loving" and sociable.


Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5. Approximately 85% of cases results from a sporadic de novo deletion, while about 15% are due to unequal segregation of a parental chromosome translocation. Although the size of the deletion varies, a deletion at region at 5p15.3 is responsible for the unique cry and the critical region of 5p15.2 is responsible for the other features. The deletion is of paternal origin in about 80% of cases in which the syndrome is de novo. Genetic counseling and genetic testing may be offered to families with cri du chat syndrome.


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Troubles don't slow Olerud
From Milwaukee Journal Sentinel, The, 3/24/02 by BOB FINNIGAN

Troubles don't slow Olerud

Mariners star, wife deal with ill daughter

By BOB FINNIGAN The Seattle Times

Sunday, March 24, 2002

Peoria, Ariz. -- Before a recent Seattle Mariners game, an opposing coach asked John Olerud a simple question.

"How's the family?" asked Nick Leyva, a Chicago White Sox coach and longtime friend of the Oleruds after their years in Toronto.

"Good," the Mariners first baseman said with a smile before the conversation swung to baseball.

But the simple question and polite, one-word reply don't tell the real story. For John Olerud, his wife Kelly and their 18-month-old daughter, Jordan, nothing is simple. Nothing at all.

From the day Jordan was born -- Aug. 30, 2000 -- the life of Olerud's second child has been a series of complicated health problems, with names that defy spelling and telling, and also defy a parent's understanding.

"There's a lot of stuff related to her chromosome makeup, a deletion of the second chromosome and an addition of the fifth," John explained. "It's best known as, cri du chat. That's French for cry of the cat. They call it that for the sounds the babies make, like a kitten crying.

"We knew right away she had a number of birth defects, that there was something wrong. She had trouble feeding, and the food was coming back up, even when she was fed through a nose tube."

Jordan sometimes inhaled the food she couldn't keep down, creating a danger of pneumonia, so she later was fed through a tube into her stomach, and still later, through a tube into her intestines. Doctors at Children's Hospital in Seattle, where Olerud's father is a dermatologist, zeroed in on a reflux condition.

"With the reflux, it was like she had heartburn all the time," said John, whose son, Garrett, is 3. "The discomfort and pain must have been constant for her."

Jordan's pain often meant little sleep for the parents and the baby.

"For nights on end, and for months at first, Jordan would get maybe an hour or two, at most," Kelly said.

Making it worse was the parents' inability to comfort their little one. For a long time, no one knew what was wrong, and she could not tell them.

"You'd try to hold her and comfort her and she just couldn't hold still, she was struggling to breathe," John said. "One of the toughest things was that early on she wouldn't or couldn't make eye contact. She'd look through you or past you. It seemed there were some autistic tendencies."

The reflux condition was corrected with a delicate surgery performed last September, in which doctors pulled Jordan's stomach around the bottom of her esophagus.

"It made feeding easier," John said. "But when she gets sick, she can't throw up, which creates another problem."

Olerud, with his usual dry wit, said he tried to use humor to ease the situation.

"I went from John the Ballplayer to Trapper John, M.D," he said. "Some of the things we had to do for her were very, very intimidating."

Olerud says that Jordan is better now, even starting to take some food orally, although no one can say with certainty what the future holds.

"She's a lot more comfortable," said the former star at Interlake High School in Bellevue, Wash., and Washington State. "Now she looks and smiles. That's been important, because we need to feel we can comfort her. It feels huge to know your child sees you or knows you're there.

"It's still difficult, especially for Kelly, but it's better."

Better means that Jordan, who spent her first six weeks in Children's Hospital and at least one week per month in a hospital for the first year, was sick only a few times last winter and was never hospitalized.

Uncertain future

Still, the future is fraught with uncertainties.

"We don't know what's ahead or what to expect for her," John said. "She still isn't making babbling baby sounds, and she isn't able to roll over. We wonder, will she be able to talk, will she be able to walk. What kind of life will she have?"

The Oleruds deal with such uncertainties the way they have throughout Jordan's life: With deep faith and unwavering support from a close, caring family on both sides. That support extends to Antioch Bible Church in Redmond, Wash., and nurse Joanne Ferry, whom Olerud calls "Godsent."

"As far as faith goes, we believe completely that Jordan is a gift from God, and it is no accident that He made her our child," John said. "I only know that at times I'd look up and say, 'I don't know what You're trying to do here. This doesn't make sense.' "

Kelly admits there have been times she has done the same.

"I still feel fragile sometimes," she said. "But I've gotten through by holding on to God and his word. Sometimes I have faith and sometimes I don't feel as strong. With God, sometimes you don't have answers, or know the way. That's why you trust in him."

Dan Wilson, friend and teammate, marveled at how the Oleruds handle their burden.

"I think John and Kelly are the part of what they mean when they say the Lord doesn't give people more than they can handle," the Mariners catcher said. "For a lot of people, this would be more, but I can't think of people who could handle this better. They do it with grace and humility."

Wilson is amazed by the Oleruds' strength.

"It takes physical strength, especially from Kelly," he said. "It takes unimaginable emotional strength."

"They are so good at it, you almost forget what they have to face every day."

For Kelly, it is caring for a child with fragile health day after day.

For her husband, there is also the matter of performing as one of baseball's premier offensive and defensive players.

Hard to leave

"It's tough to come to the park," said Olerud, a .299 hitter and two-time All-Star who has helped three teams make the playoffs six total times. "We have a son, too. He's running around and wants to do all this stuff that kids do. Kelly was trying to keep to a schedule, and I had to leave for the park."

Even worse were road trips and the guilt John felt leaving his family. "In some ways, it was easy to come to the park, I was getting away from all the problems," he said. "But in a bigger way, you felt bad. It was unfair for me to be getting a break while Kelly couldn't."

And Kelly, supportive wife but beleaguered mother, had to deal with her own feelings about this.

"It's been pretty difficult to have John even go to the park when the team is home. And to go on the road? That was really tough," she said. "But I did want him to go to the World Series with the Mariners. As much as I wanted him home, we've been in baseball enough to know that those chances don't come around too often. It hurt to miss that."

Like her husband, Kelly knows that while baseball pulls them apart, it also provides the means to care for their daughter.

"Once baseball starts, as much as John is in our world, I know he's in another world," she said. "His job demands that. It's all- consuming. And I understand. I know he felt guilty leaving us that first year.

"Shield him from some of it? I hope so, I want to.

"In the off-season John does absolutely everything he can and that picks us up a lot. But once the season starts, he's just not there. He can't be.

"We're most fortunate in (nurse) Joanne and our families. You know the expression, it takes a village? In this case, it really does."

The strong support makes them wonder how others do it with less help.

"I can't see how someone survives who does not have the support, the means, the insurance we have," Kelly said. "And a single parent dealing with this? Anyone without family around them? No, I don't see how it can be done. Yet we know that many people do and my respect for them is untold."

'Delicate balance'

Wilson tries to be supportive. His dilemma is not knowing how much to say or when to say it.

"There's a delicate balance," he said. "You want to be there for John, even if he only needs to talk. You want him to know you care and are interested. But you don't want to break into his concentration or whatever . . . he uses to handle this."

Olerud smiles when he says nothing in baseball, not even his work ethic, helps him handle Jordan's situation. Nor has dealing with Jordan made baseball any easier.

"A slump is still a slump," he said. "But there you know what you're supposed to do to get through it. You are familiar with the procedures to end a slump -- stay on the pitch, go up the middle, go the other way.

"At home, at first we were dealing with bewilderment, then how long this would go on, how difficult it would get."

Last season, Olerud hit .316 in the first half, .287 thereafter. Did worries about Jordan contribute to the downturn?

"There's a possibility, subconsciously," he admitted. "But it also could be the normalcies of a baseball season. Sometimes you swing well, sometimes you don't."

'An inspiration'

Always, the Oleruds deal daily with the realities of their life, like five trips to the doctors and/or therapists a week.

"They're an inspiration to all of us," Wilson said. "Never once is this about them. It is simply something they handle with humility."

John, however, believes the past 18 months just prove that he's really no different than anyone else.

"You play baseball and some people might think you're insulated from troubles," he said. "But playing isn't a ticket to get around life's ups and downs. The reality is, baseball or not, we are no different than anyone else."

Copyright 2002 Journal Sentinel Inc. Note: This notice does not apply to those news items already copyrighted and received through wire services or other media
Provided by ProQuest Information and Learning Company. All rights Reserved.

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