Generation of Cystic Fibrosis Sufferers Pin Hopes on Research : Science: Recent developments bring tempered optimism. There is no known cure for ailment afflicting 30,000 children and young adults in the United States.
Advertising executive Jerry Varon was in a client’s office the afternoon his son’s pediatrician called and asked to meet with him that evening.
“He said, ‘Bring a friend and bring tissue. Your son has cystic fibrosis.’ I had to ask him how to spell it,” said Varon, tears stinging his eyes at the memory of that spring day 25 years ago. The Varons hoped that a cure might come in time to save their sons.
Richie Varon, then almost 7, was getting over a second bout of pneumonia when the suspicious pediatrician ordered CF testing. Because the disease is inherited, the Varons’ daughter and their other son also were checked. Linda, 3, was fine, but 4-year-old Jimmy had CF too.
Doctors offered little hope. There was--and still is--no cure for CF, one of the most common hereditary diseases.
The isolation of the CF-carrying gene in 1989 and then the 1990 test-tube experiments that replaced the defective gene with a normal one give hope to people such as Linda Stamey, who turned 30 on Jan. 17, and Wendy and Milton Spokojny, whose 13-year-old son has the disease.
Robert Beall, medical director of the Cystic Fibrosis Foundation, said he expects to see a life-saving therapy available in five years.
CF affects 30,000 children and young adults in the United States. Their lungs produce a sticky, thick mucus that leads to lung infections and damage that robs them of breath. Elsewhere, the congestion interferes with digestion.
Improved treatments and antibiotics mean that children live on average into their 20s, a few beyond age 40.
Twenty-five years ago, most CF patients died before age 13.
“You know your child has a terminal illness, but you can’t prepare. You’re never ready,” Shaaron Varon said in a recent interview at their suburban Detroit home, where Richie’s 12-string guitar is lovingly mounted on the living room wall. “These kids teach you how to live, about life. They lived every minute. They had the best possible life.”
For three weeks after the diagnoses, the Varons, who own their advertising agency, stayed in an Ohio hospital as specialists began treating the boys and teaching their parents CF therapy: Thumping the boys’ bodies to dislodge the thick mucus.
Richie got worse the year he entered Michigan State University. He died in November, 1977, just 19 years old.
Their younger son, Jimmy, lettered in swimming at Michigan State. As a photographer for The Detroit News, he won a National Press Photographers Assn. award for his coverage of the Palestinian uprising.
Jimmy Varon married, and, 11 weeks before he died on Jan. 7 at age 28, daughter Molly was born. Because the thick mucus of CF often affects male fertility, Molly is a miracle to the Varons.
“He cried when he looked at his daughter,” Jerry Varon said.
His parents believe that, increasingly weak and fearful of becoming an invalid, Jimmy Varon gave up. “Quality of life was important to Jimmy,” his father said.
Scott Spokojny was found to have CF the week Richie Varon died. His mother had feared that her newborn son was ill because he failed to gain weight on frequent feedings.
“By nine weeks, I was hysterical,” she said. CF testing was arranged. It was positive.
“It’s hard to accept,” said Spokojny, a lawyer.
“It’s like a death sentence,” added his wife.
Scott was hospitalized the night his parents received the test results. He was treated with enzymes so that his 6-pound, 8-ounce body could absorb nourishment.
“He gained half a pound overnight with the three feedings,” his mother said.
Scott was lucky. He has not been hospitalized since then, and is well enough to play baseball, basketball and football. He hates taking 40 pills daily, vitamins and antibiotics his mother plucks from a kitchen cabinet stuffed with medicines. He doesn’t mind the twice-daily, hourlong rituals of beating the mucus from his lungs and two types of inhalation therapy.
“It’s fun. I’m used to it,” Scott said. Of his disease, he rolls his eyes and says, “It’s not that bad. I can pretty much do what I want. Maybe in the next 10 years they’ll have a cure.”
Beall, of the Cystic Fibrosis Foundation, believes gene therapy will become reality within a few years, as the discovery of the gene has prompted a flurry of new CF research.
“More people want to get into this field, now that we’re past this bottleneck,” he said.
But the gene’s discoverers, Francis Collins of the University of Michigan and Lap-chee Tsui of the Hospital for Sick Children in Toronto, will say only that they hope to see a cure within their lifetimes.
Those scientists’ labs and others are exploring gene therapy, wherein the defective CF gene would be replaced with a normal copy. The first two human gene-therapy trials were begun last fall. One to treat a rare immune disorder and another to treat melanoma, a lethal skin cancer.
Tsui said that studies on CF gene replacement in people are years away. “It is impossible to make predictions on the time involved in making this a treatment,” Collins said.
Linda Stamey, a revenue officer with the Internal Revenue Service in Pontiac, about 20 miles north of Detroit, is so optimistic that she and her husband, John, plan to start a family in a few years. Besides having undergone three bowel operations necessitated by CF mucus, she is also diabetic.
“In the general population I’m the sickly one, but in the CF and diabetes community, I’m the healthy one,” she said. “We don’t dwell on it. You have to get on with living your life.”
Jerry Varon remains on the Metro Detroit CF chapter’s board of directors, still raising money for research.
“Children shouldn’t die,” he says.
Even so, finding a cure would be a bittersweet victory.
“I’ll be real happy for everyone else,” Shaaron Varon says.
