A SENTENCE OF DEATH, A LIFE OF HOPE Support group defies the odds in genetic disorder


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."

He had a very broad nose and abnormally small eyes. "But I had read in the books, sometimes you don't bond right away, and you think the baby looks ugly." But minutes later, after she was wheeled into the recovery room, a doctor said he suspected Trisomy 13.

"There could be severe retardation. Could have heart problems. Kidney problems," she recalled him saying.

"I remember screaming. My husband fainted. Then, I remember being numb about the whole thing. My husband said, 'I just hope he dies.' He didn't want him to suffer. They took me in that day on a stretcher to see him, just in case he died."

But in a week, Joey came home.

Joey had a cleft palate, which meant he needed a special bottle. He never opened his eyes, which appeared so small and misshapen in their closed position that his parents suspected that he was blind. Worst was his apnea: Often, day or night, he would stop breathing.

"It was very, very scary. I wasn't ready to let him die. I was home with him, and several times, he would just turn blue. And we would shake him and shake him. You'd never know in the morning whether he'd be alive or dead."

During his last days, Joey stopped eating. The apnea grew worse. The Rosenbergs took him back to the hospital and told doctors to make him comfortable and not to subject him to futile life-saving measures.

"The only thing I wanted was to be with him when he died," Mrs. Rosenberg said. When the moment came, "I pulled the oxygen tent off, and went and got the nurse. She took his pulse. We held him for a while. And went home." He had lived 27 days.

When Joey was alive, Mrs. Rosenberg found emotional support in SOFT families like the Harpers. After his death, she continued to attend SOFT gatherings.

"I've talked to mothers who have lost a young baby, people kind of close by. You sort of become obsessed for a while. You need to talk for a while, get it all out."

A year ago, she gave birth to a healthy baby boy. A pre-natal test called chorionic villus sampling had confirmed that Sam didn't have a genetic abnormality. Now, she's amazed every time she looks at him, but the memory of Joey will never leave her.

"I think he had a profound effect on everybody who had a chance to know him. I don't talk about it a lot anymore, but when I mention it to friends and family, they cry as hard as we do. Our son now, we just appreciate every little tiny thing. We're just very grateful to have a chance to be parents."

'It's not going to get better'

Twenty minutes after Tracy White gave birth, doctors at the University of Maryland Medical Center were almost certain the baby had Trisomy 18. A shortened breast bone, slit-like toenails, ears flattened rather than curled at the top, an abdominal wall defect -- all were hallmarks of the syndrome.

Five days later, a genetic analysis called a karyotype confirmed the diagnosis.

Samuel is now 18 months old, a brown-haired boy who squeals when tickled, smiles when kissed, and stares in awe when stuffed animals are placed close by. Extremely farsighted, he focuses so intensely on close objects that he appears cross-eyed. But his father, John White, says thick glasses help him see just fine.

The Whites, both 30, feel blessed that he doesn't get as sick as do most newborns with Trisomy 18 or 13. Perhaps this is because he has a "translocation," which means the third chromosome is attached to the second.

He doesn't have a heart defect, takes a bottle and eats pureed food -- impressive feats since many Trisomy children must be tube-fed.

But his life is far from trouble-free. An omphalocele, an intestinal loop that protruded through his navel at birth, had to be surgically corrected. His airways and ear canals are unusually narrow, turning routine colds into painful infections.

"But he's already outlived 90 [percent] to 95 percent of the kids," said Mr. White, a medical student at the University of Maryland. "But the chances that he will live to 10 are pretty slim. He's just susceptible to infections. These kids just don't grow well."

At an age when most children are walking and speaking their first words, Sam has just learned to sit and hasn't come close to speaking. He probably has the coordination of a 6-month-old and the intellectual level of a 4-month-old.

His parents show him boundless love but are blunt about difficulties.

"It's hard to be at an age where our friends and families are successfully having babies," said Mrs. White, a Johns Hopkins biochemist. "It's hard for people to understand that no matter how much we love Sam, we'll never not be sad that he didn't turn out normal."

"A lot of people will say it's going to get better," said Mr. White. "They're ignorant. It's not going to get better, and it doesn't help to say it is. I feel very strong that people need to understand that there are cases where kids are very seriously afflicted and it's not all Special Olympics and things for parents."

For the Whites, SOFT has provided an oasis of understanding.

"It's very nice not to worry about what people are thinking, to be in a place where no one is normal," Mrs. White said of the regional gatherings where families can feel at ease.

She recalls how excitement turned to despair the day she told Samuel's pediatrician that Kyle Harper had learned to walk while holding someone's hand.

"I thought about what I'd said and about this child who was 7 years old and just learning to walk, and I just started crying. I just thought, assuming he lives, it's just going to be a long haul . . . a very long haul."

'You cling to hope'

Kyle Harper was a frail, 5-pound newborn, a floppy rag doll who took 40 minutes to drink an ounce of milk when he wanted to drink at all. The entire left side of his body was smaller and less muscular than the right. He kept getting pneumonia, he had a heart murmur and his kidneys were joined in a horseshoe.

A genetic test revealed he had a "mosaic" form of Trisomy 18. That means that some but not all of his cells carried the extra chromosome, a trait that may have enhanced his survival chances but hardly lifted the specter of death.

"We begged, 'Oh please, try and find us someone with a child like Kyle -- surely, there is someone else.' They did contact one family, but the family decided they did not want to speak with us. We came home; we were just devastated. We felt so alone," Mrs. Harper said.

But through a friend, the Harpers learned of a Philadelphia couple, Ed and Pat O'Toole, who had a child with symptoms like Kyle's. "We were in their house the next weekend," Mrs. Harper )) said.

In the O'Tooles' kitchen, the Mid-Atlantic chapter of SOFT was born.

"We offer information about a broad range of things: What works in terms of feeding, in terms of constipation," she said. "We even draw strength from parents who have lost children. We look to them and say, 'This happened to them and they survived. If they did, I can, too.' "

The newsletters contain frank testimonials about grief and hopeful accounts of children who continue to push the odds.

"It's not false hope," Mrs. Harper said. "The pictures in the newsletter are not lies. We know they are living. You cling to that hope. How do you get through the day unless you have that hope?"

At 9, Kyle has straight brown hair, a sheepish grin, slightly crossed eyes, skinny legs and a quiet aura that seems to suggest a boy at peace.

He busies himself playing with motorized toys and has figured out what makes them go. When batteries fall out of his motorized Sesame Street car, stalling "Ernie" on his travels across the floor, Kyle demands a repair by holding the batteries aloft.

Kyle has two doting sisters, Laura, 13, and Julie, 11, who like to push him on their tree swing and help with diapering. They have learned to feed him, using a tube that carries liquid formula directly to his stomach.

"My biggest fear is of losing him," Mrs. Harper said. "I try not to think about it very often. I draw so much hope from him because he's doing so well."

She paused to reflect.

"People will come to a funeral and say it's for the best. How can it be for the best to lose a child who has been through so much?" she asked.

"Despite all the suffering, in some ways you grow so much as a result of it. Probably 50 percent of the person I am is because of Kyle. It's changed me so much."

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