Doris Goldman is the quintessential professional. On a recent weekday, she is in her glass-walled office early, having made the short walk from a modern condominium complex across the street, home to hard-core Irvine business executives who can't waste time on a long commute.
She has a lot on her mind today: the Chicago Tribune, Philadelphia Inquirer, 20-20. She has to get through to all of them. Twist their arms. Make them listen. The media can reach a lot of people fast.
Time is precious, so very precious. This is something Goldman knows painfully well.
She picks up a plastic photo cube on her desk showing pictures of her three children when each was a young adult. Nancy, her oldest daughter, lives in Encino. Sharon and Jack are dead.
Time ran out.
If Goldman has her way, no one will ever die again from long QT syndrome, the awkward name for the cardiac disorder that killed her two vibrant, athletic children without warning. She has made it her responsibility to warn others about the disease.
"Every place a story runs on this, we are bombarded with calls," she says, shuffling a stack of newspaper clippings.
When Goldman picks up the phone to dial a reporter, she is polite but firm and to the point. Her voice does not waver.
"My son died at 20 . . . my daughter at age 29. . . . A dominant gene causes long QT. . . . Other families--no one knows just how many--carry the gene too. . . . Medication can control it. . . . Often the young person faints for no apparent reason. . . . But the first symptom is sometimes sudden death."
Please write something, Goldman beseeches. Not enough people know about long QT.
And she is right.
In the last two years, researchers have begun to dramatically re-evaluate information on long QT syndrome, which is caused by a malfunction of the heart's electrical system, leading it to beat wildly--and sometimes to stop.
The more doctors find out, they more they raise their estimates on the number of people who may carry the gene. Previously, the disorder was believed to affect about one person in 10,000, but that figure is now thought to be far too low.
"We just don't know how common it is," says Dr. G. Michael Vincent of the University of Utah, where pioneering work on long QT has been done. "We know it is more under-recognized than rare. But now a lot more families are being identified."
The explosion of information on the disorder stems from two sources: One is the work of a handful of researchers, including the University of Utah group, which identified a genetic marker for the syndrome in 1991.
The other source is Goldman. Because of her efforts to alert unsuspecting families, dozens of families around the nation are being tested for the disorder.
"She's fantastic," says Vincent. "Her ability to tell her story has been extraordinarily important" in helping establish the Sudden Arrhythmia Death Syndromes (SADS) Foundation at LDS Hospital in Salt Lake City to identify long QT families and to support research.
"I can't imagine the kind of strength Doris has," says Toni DeBilzan, a Laguna Hills woman who lost her 19-year-old son, Josh Sergio, to long QT in 1991. "I can't really put into words how I feel about Doris." The DeBilzan family discovered they carry the gene after a story on Goldman appeared last year in the Orange County Register.
For her part, Goldman seems born to take charge. She has a resonant voice, which masks the perpetual lump in her throat. As she speaks, she crumples a tissue in one fist.
"I'm healthy because I'm throwing myself into this," she says. "I've got to make a positive out of a negative."
Besides, Goldman has other family members who carry the gene to think about. Sharon's son, Jacob, who was 5 months old when his mother died in 1991, has been found to be a carrier.
"By the time Jacob ponders whether or not to have children, I hope we have some sort of genetic therapy for this," Goldman says. "Or I hope we at least have enough awareness that the medical community will consider the possibility of long QT whenever a young person faints."
Jack Toran, Goldman's son, died in 1979 while on a camping trip in Grand Teton National Park. He had been working in construction in Wyoming before taking the short trek. Jack told his mother that he'd call her when he and his friends emerged from the park.
A few days after Jack's trip began, Doris received a phone call about 11:30 one night. She recalls the conversation this way:
"Are you Jack Toran's mother?"
"Is he OK?"
"Didn't anyone call you? This is the coroner calling from Jackson Hole, Wyo."
"Was he in an accident?"
"No. He died peacefully in his sleep."
Apart from the shock of her son's death, the words themselves made no sense to Goldman. \o7 Died peacefully in his sleep. \f7 How could that be? He was a young man, an athlete. He had never been seriously ill.
For almost two years, the family searched for a cause of death. The FBI investigated. Soil samples were taken in search of an unknown toxin.