The Stealth Disorder
When Lawrence O’Laughlin was born in Brooklyn in 1936, amid the sweep of the Great Depression, he was not like his 12 siblings. He was sickly and his skin was oddly salty.
It would be two years before doctors would identify and name cystic fibrosis, a condition then thought only to affect children. Fifty-nine more years would pass before O’Laughlin, who now lives in Farmingdale, N.Y., would get a diagnosis. He is one of only 14 people in the nation known to have the disease past age 60.
Cystic fibrosis long has been thought of as a disorder of childhood, with few living past age 30. But there is a subset of patients, doctors say, with milder disease who live beyond middle age, even though their health is often ravaged by bouts with pneumonia, bronchitis and an ever-present cough.
The oldest known patient is 70, according to the Cystic Fibrosis Foundation in Bethesda, Md., which maintains a national registry of patients. A research team in Iowa is running tests on a patient who is 83 and may have the disorder.
Specialists say doctors need to be aware that adults who have suffered repeated bouts of pneumonia, chronic bronchitis and other lung infections may have mild cystic fibrosis.
Dr. Louis Guida, director of the Cystic Fibrosis Center at Good Samaritan Medical Center in West Islip, N.Y., where O’Laughlin is a patient, said he believes there are many more patients like O’Laughlin who are undiagnosed. “Adult-lung specialists and family practitioners who are taking care of these patients with chronic bronchiectasis are not sending them for sweat tests, so we’re probably missing some of them that are out there,” he said.
“I was not expecting this at all,” O’Laughlin, who is 61, said of his diagnosis. “It just seems like I’ve always had problems with bronchitis that just never went away.”
In 1989, scientists discovered CFTR, a gene linked to the disease. Since then, they’ve uncovered a mind-boggling array of mutations in the gene--about 700 in all--which translate into variations of the inherited disorder, including one that allows patients with a very mild form to survive.
Cystic fibrosis is the most common lethal genetic disease among whites, afflicting 1 in every 2,400 infants. The disease causes the body to produce thick, viscous fluid that obstructs a variety of systems throughout the body, including the lungs, the sweat glands and pancreas. It also blocks the gastrointestinal tract and forces a high concentration of chloride--salt--to be present in sweat.
The primary cause of death from cystic fibrosis is from lung disease. Males with cystic fibrosis are invariably infertile because of obstructions in reproductive organs.
There are a number of ways to test for the disease, doctors say, including genetic screening, which became available shortly after CFTR was discovered. Another method is measuring salt concentrations in sweat. In older patients, such as O’Laughlin, doctors will usually combine the two, experts said.
“We always knew that these patients existed,” said Dr. Lynne Quinttell, associate professor of pediatrics at Columbia-Presbyterian Medical Center in Manhattan, where she directs of the cystic fibrosis center. “But most of them would have borderline sweat tests,” so the diagnosis wasn’t always clear.
“Right now, we’re in the midst of finding out what all of the mutations mean,” she said.
Studies of the mutations, Quinttell said, show an aberrant protein is produced in the pancreas, sweat glands, intestine, reproductive tract and lungs. The protein is linked to defective chloride channels, which explains the excessive amount of salt in sweat and tissues.
