"We're talking about the late teens, early 20s, a time when all of us are trying to get careers, find spouses and think about having a family," said Dr. Michael Boyle, who runs the adult clinic at Hopkins. "They're doing all those things - plus spending an hour or two maintaining their health."
Until the 1990s, there weren't enough adult survivors to justify a clinic of their own. Since the clinic's founding, the caseload has grown from 40 patients to 200.
"I went to medical school here, trained in adult medicine and saw one cystic fibrosis patient the whole time," said Boyle, a pulmonologist who graduated from Hopkins in 1990.
But a few years later, while subbing for a colleague at the pediatric clinic, Boyle noticed something odd: several young adults looking curiously out of place in a waiting room where youngsters sat on pint-sized chairs and played with toys.
In 1996, Boyle established one of the first adult cystic fibrosis clinics. Today, there are 96 in the U.S. accredited by the Cystic Fibrosis Foundation, which has funded virtually all the drug development that has led to survival gains.
Survival, though, is no easy task.
Patients can become resistant to the antibiotics that treat and prevent infections. They fight side effects that can include hearing loss and dizziness. They can lose lung function if they start skipping treatments. And a quarter develop diabetes and require insulin.
All these issues were evident one afternoon as Boyle and colleagues met to review patient histories before their appointments.
A man who had recently lost his brother to the disease worried about whether he was doing enough to stay healthy. A woman with a 2-year-old child had been coughing up blood.
A young man developed osteoporosis - the combined effect of medication, chronic inflammation and digestive problems. A college student had to connect herself to a feeding tube at night to keep her weight above 100 pounds.
Whatever their symptoms, patients suffer from a single underlying problem. By inheriting a mutant gene from each parent, they are saddled with a defective protein that sits on the surface of cells lining the lungs, airways and pancreas.
The protein is supposed to maintain a proper balance of salt and water, both inside and outside the cells. But instead, the salt concentrates in the cells, and the mucus lining the airways becomes thick and sticky - the bane of a patient's life.
