Now that more patients are living longer with the disease, one challenge in the Yale Adult Cystic Fibrosis Program is to help patients find balance in their lives.
Jonathan Koff, MD, spends time with a patient.
(June 2012) In the Yale Adult Cystic Fibrosis Program, doctors are treating patients who are graduating from college, getting married, having children, and working as teachers and IBM executives. One recently ran in the New York marathon.
It’s not as easy as it looks. Patients take medications, need therapies to clear their lungs, and in severe cases become candidates for lung transplantation. Still most of their stories are a vast improvement over the last 10 to 15 years when children with this disease routinely died before their 18th birthday.
“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, MD, associate director of the program.
Program director Jonathan Koff, MD, who also works closely with Amy Ahasic, MD says, “Overall, our patients are optimistic, because they’ve seen other patients do well. We have patients who do all sorts of things, so that ultimately the challenge becomes balancing their therapies in their daily life.”
Yale’s adult program, which is accredited by the Cystic Fibrosis Foundation, has been transforming itself to accommodate the changes. It recently increased its patient care days to once a week, and office renovations are planned for this fall. Because longstanding 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 cystic fibrosis is a complex disease that affects not only the lungs, but other areas, 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.
Dr. Koff and Sue Iezzi, RN, use a model to show how cystic fibrosis affects the body.
Most of the patients were diagnosed as newborns or children, and treated by Marie Egan, MD, and her colleagues in the Yale Pediatric Cystic Fibrosis Program. They have an advantage in that they were screened as newborns, and begin respiratory therapy before they are 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,” Dr. Egan says.
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 did a woman in her 60s who had been misdiagnosed as having asthma. “Cystic fibrosis is a multi-system disease and we’re interested in helping to diagnose patients where it was not previously considered,” says Dr. Koff, who especially wants to test those who have pancreatitis, fertility issues, chronic sinusitis, nasal polyps, and chronic lung infections. Those who are diagnosed at a later age typically have a milder presentation and are often relieved to hear their diagnosis. “If they come to us with a cough, and we tell them that they have cystic fibrosis 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 make sure they take their nebulizer treatment multiple times a day. They learn to juggle what can be hours a 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 Dr. Talwalkar.
A patient in the pulmonary function laboratory undergoes spirometry, a test of lung function.
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 adult subspecialists in areas that become important as they grow, including:
Caryn Mickle, 28, received a lung transplant last fall after reaching the point where she needed oxygen to support her breathing. While the disease has also caused digestive issues and she is taking a year to recover from surgery, she says her breathing is vastly improved.
Mickle is grateful to doctors at the adult center for supporting her as she earned two masters’ degrees from George Washington University, and made the difficult decision to go on a cruise with her family, away from her usual medical care. “The doctors and staff encouraged me to go, and helped out a lot with working with insurance to pay for portable oxygen. They provided antibiotics in case something came up and reassured me that I would, in fact, be OK, even though I was far away in the ocean,” she says. “It was a wonderful trip.”
Story by Kathy Katella
Photos by Robert Lisak
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The arsenal of treatments keeps improving for cystic fibrosis, an inherited chronic disease that affects about 70,000 people worldwide, causing the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening infections.
Doctors now know that cystic fibrosis can be caused by one of many different genetic mutations. Recently, one of the biggest treatment breakthroughs has been the FDA approval, early in 2011, of Kalydeco, the first medication to treat the underlying cause of cystic fibrosis, rather than just the symptoms.
“This drug targets one specific mutation in CFTR, the gene that is responsible for the disease, but only for a small percentage of our patients that have this mutation,” says Jonathan Koff, MD. “The success of this drug leads us to believe that in the future, we will have the ability to provide a variety of drugs to target different mutations. In the near future, we should see a new beginning in cystic fibrosis care, ideally with a pill for one mutation. We can imagine giving a patient something similar to the cocktail of drugs that doctors give to treat HIV to target different cystic fibrosis mutations.”
For patients, the payoff from this type of research is longer life expectancy, something that is already improving every few years as patients benefit from better care programs. While many are living longer lives, the average lifespan is 37 years, and not all patients make it past childhood.
“Over the past 10-15 years, life expectancy has improved to the point where by 2015, there will be more adults with the disease than there are children,” Dr. Koff says.