In the mid-1950s, children with cystic fibrosis (CF), a genetic disease that causes thick mucus to clog the lungs and pancreatic ducts, were not expected to survive long enough to attend grade school. Even 10 to 15 years ago, children with this disease routinely died before their 18th birthday. But today, thanks to advances in both research and treatment strategies, doctors at the Yale Adult Cystic Fibrosis Center are seeing patients graduate from college, get married, have children, and work in every profession from teacher to executive. One recently ran in the New York City marathon.
Having CF is still a major challenge for patients, who often must take several medications to manage the disease, as well as various therapies to clear their lungs. In severe cases, they become candidates for lung transplantation. Still, these days, most patients’ stories represent a vast improvement over the recent past. “Most of my patients are working members of the community, and nobody passing them on the street, or working with them, would know that they’re sick,” says Jaideep Talwalkar, M.D., assistant professor of medicine and pediatrics, and associate director of the center.
Yale’s adult program, accredited by the Cystic Fibrosis Foundation, has continually kept up with advances in the field. Because long-standing data links comprehensive care with longer life spans, all patients now have easy access to a nurse, respiratory therapist, nutritionist, social worker, physical therapist, and research coordinator.
“All of our caregivers are very important,” says Cheryl Robaczynski, registered dietician for the clinic, explaining that CF is a complex disease that affects not only the lungs, but other factors as well, such as digestion and blood sugar. “One symptom may be an issue for a patient during a visit and it may take center stage, but everything is important. As a member of the team, I need to have basic knowledge in all of the areas,” she says.
The center’s expertise has recently been bolstered by the 2010 recruitment of Amy M. Ahasic, M.D., M.P.H., assistant professor of medicine and an expert in critical care and occupational medicine.
Most of the center’s patients were diagnosed as newborns or children, and treated at the Yale Pediatric Cystic Fibrosis Center by the center’s director, Marie E. Egan, M.D., and her colleagues. Very early screening has given these patients an advantage in that they began respiratory therapy before they were weakened by built-up mucus and debilitating lung infections. “We’re very aggressive in making sure kids are gaining weight and getting adequate pancreatic enzymes if they have pancreatic insufficiency, which most patients do,” says Egan, associate professor of pediatrics and of cellular and molecular physiology.
When patients turn 18, they participate in a formal transition to the adult clinic, quickly or gradually, depending on their comfort level.
Meanwhile, a minority of patients make their first visits as adults, as a woman in her 60s, who had been misdiagnosed as having asthma, did recently.
“Cystic fibrosis is a multi-system disease and we’re interested in helping to diagnose patients where it was not previously considered,” says Jonathan Koff, M.D., assistant professor of medicine and the adult center’s director, who especially wants to test those who have pancreatitis, fertility issues, chronic sinusitis, nasal polyps, and chronic lung infections. Those diagnosed at a later age typically have a milder version of the disease and are often relieved to hear their diagnosis. “If they come to us with a cough, and we tell them that they have CF and we can provide relatively simple therapies to improve things, I think they’re better off,” he says.
Adult patients are different in that they are expected to “take ownership” of their disease and to depend less on family members to make sure they take their antibiotics, enzymes, vitamins, use airway clearance devices to break up mucus, or take a nebulizer treatment multiple times a day. They learn to juggle what can be hours per day of therapy with their jobs, relationships, and families. “We value the input and involvement of family members regardless of the age of the patient, but we really try to put our emphasis on the patient. When I have a 25-year-old whose mother is still making calls to say her child isn’t feeling well, that’s a sort of a red flag that the patient needs to take ownership,” says Talwalkar.
Patients visit the adult center at least four times a year, and more frequently if there are symptoms or issues that require special attention. They may see specialists in areas that become important as they grow, including diabetes and its complications, osteoporosis and risk of fractures, and fertility and family planning, and insurance or employment issues.
“Overall, our patients are optimistic, because they’ve seen other patients do well,” says Koff. “We have patients who do all sorts of things, so that ultimately the challenge becomes balancing their therapies in their daily life.”