AYUMI NAKANISHI / ANAKANISHI@STARBULLETIN.COM Life's lighter moments hold special joy for the Allen family, of Aliamanu. Four of the family's five children suffer from a genetic mental disorder known as fragile X syndrome. At left, Torian, 6, made a face Oct. 5 at brother Cedric, 5 months, as mom Karrie looked on. The Allens hope others can learn from their travails and triumphs.

Genetic defect
hits 4 kids

An Aliamanu family learns
to cope with mental impairment

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By Helen Altonn
haltonn@starbulletin.com

"Fragile what?" Karrie Allen asked when told she was a carrier for fragile X syndrome.

She and her husband, Kevin, of Aliamanu Military Reservation, had never heard of the disorder, recognized annually on Oct. 5 with National Fragile X Syndrome Day.

Four of their five children have since been diagnosed with fragile X, the leading cause of inherited mental impairment.

"About 90 percent of the people affected with this disorder don't know it," said Kevin, an Army sergeant, explaining it is often misdiagnosed as autism. People are affected in a variety of ways, from mild learning disabilities to severe retardation.

"It's very common, but a lot of doctors don't even know about it," said Karrie Allen, carrier of the gene FMR1, which causes fragile X. A defect in the gene shuts it down so it cannot produce the protein it normally makes. A carrier can have a small defect with no symptoms.

It is called fragile X because a gap, or fragile site, exists at the end of the X chromosome in white blood cells of patients.

AYUMI NAKANISHI / ANAKANISHI@STARBULLETIN.COM Karrie and Kevin Allen have five children, four of whom have fragile X syndrome. The kids are, from left, Torian, 6; Christopher, 5; Kailey, 2; Cedric, 5 months; and Monique, 9.

Fragile X members in the Allen family include Monique, 9; Torian, 6; Kailey, 2; and Cedric, 5 months. Christopher, 5 years old, is negative but beginning to copy the behavior of his siblings to get equal attention, his mother said.

Kevin said it is rare for a family to have more than one or two children with fragile X, possibly because parents stop having children when the disorder is diagnosed.

Karrie had three children before the couple married in 1999. Torian, the 6-year-old, had been diagnosed with developmental delay, then with autism, the couple said. He was retested at age 3 1/2 and found to have fragile X.

"Doctors didn't really explain it," Karrie said. "No one ever said I could pass it to more of my children. No one suggested I get tested or my other children get tested."

The couple did not know until receiving test results this month that Monique and Kailey have fragile X, as well as their 6-year-old and the baby.

A pediatrician at Tripler Army Medical Center suggested getting the whole family tested in June, Karrie said. "He said there seems to be a pattern in the family, and he's trying to figure out the pattern."

Monique had been having a lot of behavior problems, but blood tests were not done for her until this summer, her mother said.

AYUMI NAKANISHI / ANAKANISHI@STARBULLETIN.COM Monique, Torian, Christopher and Kailey had a good time playing on their toys at home recently.

"She can't focus. She really has a hard time with sensory input and output, like telling you a story. She can't tell you what happened or why it happened. Turning on a lamp is almost impossible for her. She has a lot of occupational, physical and speech therapy."

There is no cure for fragile X, but medications are improving Monique's concentration and behavior, her mother said.

When pregnant with their 2-year-old, Karrie said she was told not to have amniocentesis because girls are mainly carriers and would not be affected until childbearing age. When Kailey's June test was positive, she said, "We were shocked."

Karrie had the diagnostic test when pregnant with Cedric, the baby, which showed he has the disorder. The Allens, who are Catholic, chose to continue the pregnancy.

"Every child with fragile X syndrome is different," Karrie said. "They develop at their own rate. ... Some are more severe than others. We talked about it. He's still our son. He's still a person.

"We thought at the time he would be only No. 2 -- two sons with fragile X syndrome. We thought ... we can handle that. We didn't know it would end in the long run being four."

Studies show fragile X affects one in 2,000 males and one in 4,000 females, who commonly are the carriers. Females, who inherit one X chromosome from each parent, are less likely to show physical characteristics of fragile X, but they may have reading, math and language problems, Kevin said.

Males, who have only one X chromosome from the mother, may have physical characteristics, such as large ears and long faces, he said. Other symptoms may include mental impairment, attention deficit and hyperactivity, anxiety and unstable moods, autistic-like behaviors and seizures.

Karrie said their 6-year-old, Torian, is more severe than the others, but "he has more good days than bad days. He can be the most adorable, lovable child in the world. It's just when he can't communicate, he gets frustrated."

The Allens just recently heard about various resources from "a social worker we should have had three years ago," Karrie said. They did not know the military had listed them as having an "exceptional family member," entitling them to a social worker, until they began having problems with the school system over services for their children, she said.

"You know, when I tell people I have four children with fragile X, even when I had two, they say, 'How do you do it?'" Karrie said. "In actuality it's not that bad. Some people have one child in a wheelchair or on a feeding tube. Some people have it worse than I do."

But a fragile X support group could help, she said. "You feel like you're alone in the world with this thing. You want to talk to other people about it." The Allens can be reached at 833-7396 or 271-4811.