Support group defies the odds in genetic disorder

A SENTENCE OF DEATH, A LIFE OF HOPE

June 28, 1992|By Jonathan Bor | Jonathan Bor,Staff Writer

At an age when many kids are learning to multiply or decipher baseball box scores, Kyle Harper has learned to stand independently without dropping to the floor.

Nearly 9 years old, he cannot talk but uses long vowel sounds -- like aaaaa -- to make his presence known. He probably will spend the rest of his life in diapers but has learned to demand a change by untaping them and stretching his T-shirt over his head.

Kyle's parents, Joan and John Harper of Seaford, Del., have found contentment in his modest strides. No one thought he'd learn to communicate at all, or live this long. When they first discovered he suffered from the rare genetic disorder, Trisomy 18, doctors predicted that he wouldn't see his first birthday.

"When a diagnosis of Trisomy 18 is made, it's like putting a hood over their heads," said Mrs. Harper, who teaches the first grade in Easton. "To many doctors it's a death sentence. You're just sent home with a dying child."

"And they told us at Hopkins that we'd never meet another family with a Trisomy child," added Mr. Harper, who manages a quick-stop oil change business.

After plunging into the frightening isolation that came with Kyle's diagnosis, they discovered a lifeline in SOFT -- Support Organization for Trisomy 18, 13 and Related Disorders. The group of about 1,400 families and professionals discusses everything from tube-feeding to the delicate matter of explaining a child's death to siblings.

It has also become the nation's most respected storehouse of data about the disorders despite being a no-staff organization run from the kitchens and basements of families from Seattle to Seaford.

The group was founded by Kris Holladay 15 years ago after her daughter, Kari, was born with Trisomy 18. Mrs. Holladay was astonished that her Utah doctors could offer little guidance and knew of no other families who could share their experiences.

"It was the act of a desperate parent," Mrs. Holladay said of her efforts to scour the West, and then the nation, for children like hers. Kari lived to be almost 11.

Besides regional socials, SOFT now holds national conventions. In what promises to be its largest gathering, SOFT will bring about 600 parents, children and professionals to the Sheraton Inner Harbor Hotel in Baltimore, Thursday through Sunday. The conference will feature a free clinic sponsored by the Kennedy Krieger Institute and Johns Hopkins Hospital.

For information, call Kennedy Krieger at (410) 550-9490.

"The thing that impresses me most about SOFT is that they're really realistic," said Dr. Stephen Amato, chief of pediatrics at the Greater Baltimore Medical Center. "They're very positive advocates, but not throw-themselves-on-the-barricades crazies like you sometimes get with some advocacy groups."

SOFT, he explained, gives parents hope but doesn't mislead.

Trisomy 18 and a related disorder, Trisomy 13, are chromosomal abnormalities that, together, are present in 1 out of every 2,500 live births. Geneticists stress the distinction -- live births -- because the disorder is so incompatible with human development that most of the mothers miscarry.

The few infants who leave the womb alive face unimaginable odds. They are so profoundly retarded that specialists track the developmental "age" of 8- or 9-year-olds in months, not years. They are plagued with medical problems that can include heart defects, respiratory infections, cleft palates, blindness, deafness and seizures.

The brain may be so poorly developed that it fails to signal the lungs to breathe, a condition known as apnea. This, or a heart problem, or an infection, or some other anomaly kills 90 percent of the children, perhaps more, in the first year of life.

Because of the death rate, there are perhaps fewer than 1,000 children with Trisomy 18 or 13 living in the United States at any given time, according to SOFT's best estimates. Bonnie Baty, a genetic counselor from Salt Lake City, estimates there are fewer than 20 in their teens.

The disorders stem from an accident of nature.

Ordinarily, each human cell has 23 pairs of chromosomes, threadlike collections of genes that carry the blueprint for every human trait. But in the development of the embryo, a third chromosome may align itself somewhere along the string, making for a chromosomal "trisomy" rather than a pair.

Down's syndrome, perhaps the most familiar form of mental retardation, results from a trisomy on the 21st position. While many children with Down's syndrome walk and talk and attend school, kids with Trisomy 18 and 13 hardly ever do.

'He didn't really look right'

Melissa Rosenberg of Silver Spring was a healthy, 26-year-old with every reason to expect a normal child when she delivered Joey three years ago.

"The room got a little quiet. The baby didn't really cry. They handed him to me, and I thought he didn't really look right."

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