ince the gene for cystic fibrosis was identified in 1989, researchers have found that there are some 1,000 genetic deletions, or defects, that may cause the disease. This may explain, in part, the varying symptoms and disease progression among patients. What all share is a defective protein that prevents normal movement of salt in and out of epithelial cells—those lining the lungs, pancreas, and most of the body’s organs. As a result, the secretions in most organs of the body become abnormally thick.

The most common and devastating result is the build-up of thick, sticky mucus in the lungs, a condition that favors the growth of increasingly antibiotic-resistant bacteria, explains Giovanni Piedimonte, M.D., professor of pediatrics, medicine, and molecular and cellular pharmacology. Normally bacteria are pushed out of the bronchi, the branching series of tubes in the lungs, by tiny hair-like structures called cilia and coughed up or swallowed. In people with cystic fibrosis, the mucus is too thick to be removed this way. So the small air passages of the lungs become clogged and serve as an ideal bacterial breeding ground.

“Patients are susceptible to all sorts of viruses and bacteria, and eventually become infected with Pseudomonas aeruginosa, which remains with them for the rest of their life,” Piedimonte says. “The disease progressively affects larger and larger areas of the lung, which become fibrotic (stiff). Eventually, patients succumb to infection or the lung is destroyed.”

In 85 percent of patients with cystic fibrosis, thick secretions also prevent enzymes produced by the pancreas from entering the intestines, where they normally break down and digest food. Many children are diagnosed with the disease because this pancreatic insufficiency prevents them from growing and developing despite a healthy appetite.

Today, patients are living much longer and experiencing a better quality of life because of the intensive approach taken by places such as the Cystic Fibrosis Center. But it means spending several hours every day on medical care. Dana Munsey, at 44 one of McKey’s oldest “grown-up kids,” rises at least an hour and a half before work to begin a routine that includes using a genetically engineered aerosol that dissolves the solidified mucus and a bronchodilator to open his air passages. After about an hour of chest physiotherapy—during which a respiratory therapist lands percussive claps on his chest and back—he takes a few minutes to cough. At night, he repeats this process. He also jogs or goes to the gym daily because exercise strengthens lungs and helps bring up mucus.

Munsey is lucky. He takes only 16 pills a day. Many people with cystic fibrosis take 20 to 40, most of them enzymes taken at each meal to replace those not produced by the pancreas. Some also spend 28 days on, then 28 days off, an aerosol form of the antibiotic tobramycin to prevent lung infections. And, once the disease has progressed, usually during the teenage years, patients enter the hospital every few months for “tune-ups,” or courses of intravenous antibiotic treatment coupled with intensive chest physiotherapy. “Having CF is hard work, “ says Munsey, a Miami-based jewelry store owner. “But you do learn to compartmentalize your life.”

That’s a skill Munsey has shared with scores of youngsters as a counselor and director of the Sunny Shores Sea Camp, a program started by McKey and parents of children with cystic fibrosis. One of Munsey’s fellow directors and counselors was Falcon Batchelor, whose prognosis at age 14 was thought to be three years. When Falcon lived another 20 under the care of McKey and the University, his father thanked the University with a total of $15 million to build the 151,000-square-foot Batchelor Children’s Research Institute. It houses the only freestanding cystic fibrosis center in South Florida and the only one accredited by the National Cystic Fibrosis Foundation.

The Institute also has pediatric pulmonary laboratories where scientists do research on cystic fibrosis and other childhood lung diseases. Progress includes development of an animal model, a CF rat that has the chronic, low-level infection and lung inflammation typical of people with the disease. “We want to see how these rats react when exposed to viruses,” explains Alexander Auais, A.B. ’92, M.D., assistant professor of pediatrics research and associate director of research in the Pediatric Pulmonology Division. “By understanding what goes on at the molecular level with these rats, we’ll have a better understanding of what kind of inflammatory mediators are involved in the disease.”

Psychologists such as Alexandra L. Quittner also are investigating ways to help this population stick to its medical regimens. But no matter how compliant, until a cure is found, everyone with cystic fibrosis eventually succumbs to severe infection or complete destruction of their lungs. That’s why so many grasped at a new chance at life when the University launched a lung transplant program five years ago.

“CF patients do better than most others,” says Si M. Pham, M.D., professor of surgery and director of the Heart and Lung Transplant Program at the University of Miami/Jackson Memorial Medical Center. “They’re brought up to take care of themselves and follow the treatment regimen very religiously.”

Tina Newson is on the waiting list for a lung transplant. But she knows there’s at least a two-year wait, and she lives every day as if it’s her last.

“I’m so blessed. I’ve already outlived most CF patients,” she says. “I’d love to see my kids grow up and get married and have grandchildren. But we all have a limited number of days. And I’m just learning to enjoy today.”