Cystic fibrosis (CF), an inherited genetic disease, is often considered a pediatric affliction. However, for the first time since this disease was documented in the 1930s, the number of adults with CF almost surpasses the number of children. Today’s survivors are going to college, getting married and connecting on Facebook.
Being a teen with CF presents daily challenges that impact long-term survival. Suddenly faced with managing all aspects of their care, some rebel. They stop taking their medications, resist using their airway clearance devices and skip needed therapies.
“The timing creates a perfect storm,” said Kevin Shaw, MD
, co-director of the Adult Cystic Fibrosis Clinic
at UC San Diego Health System. “We see drastic changes in our patients’ health, especially among college students around the time of final exams.”
National data shows that teenage patients with CF undergo a dramatic drop in pulmonary function. This may not be the natural course of the disease, but instead, a function of being young and wanting to hang out with friends, rather than being a patient.
To reach this vulnerable population, UC San Diego Health System has launched a regional effort to improve the quality of care of CF patients who are transitioning into adulthood. The program focuses on outreach to new patients, standardizing tests between pediatric and adult hospitals, and offering aggressive education and specialized nighttime clinics for patients.
Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 70,000 children and adults worldwide. A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. It also obstructs the pancreas and stops natural enzymes from helping the body break down food and absorb nutrients.
Most patients with CF are diagnosed before the age of two. Due to frequent hospital visits, surgical interventions and massive amounts of prescriptions, kids with CF often self-identify as a patient first, before thinking of themselves as a boy or girl, son or daughter.
Adult Cystic Fibrosis Clinic
The Adult Cystic Fibrosis Clinic at UC San Diego Health System was established in 1995. Since 2007, the number of patients has more than doubled. The clinic now sees more than 220 patients.
“Our goal is to proactively identify and track CF patients long before they leave pediatric care,” said Jessica Goggin, RN, a nurse at UC San Diego Health System. “Often, patients are advised to transition to an adult center but they fear doing so, sometimes waiting up to a year to seek care. We want to help these patients. It’s better to have a first-time visit in clinic rather than in the emergency department.”
Shaw and the CF team visit local pediatric hospitals to meet in advance with parents of young CF patients, after which the patients themselves are contacted to help set up a UC San Diego Health System appointment within 30 days of their pediatric care ending.
“One of the first things we ask them when we see a new patient is, ‘What do you know about cystic fibrosis?’” said Shaw. “‘Do you know why you take this medicine? Do you know what it does?’ We also talk about compliance and adherence.”
Shaw estimates that few of these young patients, even after years of treatment, understand why they have CF or what the disease is. “I’d say that nine out of 10 patients under the age of 18 cannot offer a definition of cystic fibrosis. They are just beginning to be old enough to understand the science of their disease, so education becomes a priority,” said Shaw.
One surprising change for former pediatric patients is the difference in regular pulmonary tests performed at the adult clinic.
“Pulmonary tests are performed sitting rather than standing, which is the approach in most pediatric centers,” said Shaw. “We find that results can be skewed when upright. The different testing approach can result in a sudden drop in pulmonary function, causing alarm and resulting in patient distrust. We are coordinating with pediatric hospitals so that, in the future, one seated test will be done before patients come to see us.”
To see patients at convenient times, night clinics are offered. The evening hours are ideal for patients who are in school or working.
“It’s safer for cystic fibrosis patients to avoid significant commingling due to the risk of spreading infectious organisms. Common organisms don’t affect most people, but in CF patients, they can set up shop in the lungs,” said Shaw. “In night clinics, we use each room once a night. The goal is to decrease exposure to harmful bacteria and mold and to keep infections down.”
Shaw added that the clinics offer comprehensive, multidisciplinary care, since 25 percent of patients with CF also have a diagnosis of diabetes. Other co-existing conditions can include malnutrition, anxiety and depression.
In the adult clinic, patients are seen without their parents. The team inquires about sexual behavior, drug and cigarette use, and adherence to therapy. Based on conversations, patients may sound compliant, but blood tests sometimes tell a different story.
“Younger patients do well because parents make them perform all their therapies. Between the ages of 14 and 20, however, adherence drops. Patients don’t take their enzymes and don’t do therapy at home,” said Shaw. “Part of the issue is that young people sometimes want to conceal their disease. This can mean hiding their diagnosis and even stashing their medications in candy boxes or in the glove compartment of their car.”
Ashley, 21, hides nothing about her cystic fibrosis diagnosis. A tattoo on her stomach bears the image of a red rose and the words “65 Roses”— what some children call cystic fibrosis because the words are easier to pronounce.
“Having cystic fibrosis is all I know. I don’t consider myself sick or that I can’t breathe. This is who I am,” said Ashley, who is studying child development at Mesa College. “CF doesn’t control my day. I wake up and I feel fine.”
Ashley spends up to four hours a day managing her CF. Her mom and boyfriend help clean the medicine nebulizers that fill three kitchen cabinets. She is not shy about using her spit bucket, wearing a vibrating vest to break up mucus or popping one of 33 prescribed pills.
“One in 10 patients can articulate exactly what their disease is and why they have it. This is Ashley. She knows everything about her disease,” said Shaw. “She and her mom make an incredible team. Ashley asks questions and is not afraid to ask for second opinions, even right here at the clinic.”
“After transitioning to UC San Diego Health System, what I noticed is that the doctors and nurses talk to me directly. If they say my name, it’s because they are talking to me,” said Ashley. “I like it this way.”
While communication can be lifesaving, direct contact with other CF patients is risky. At one time, summer camps were a way for patients to connect, until it was learned that harmful bacteria was passed between patients. Social media now serves as a virtual camp for patients.
“On Facebook, we call each other cysters and fibros,” said Ashley. “We talk every day. The website helps me to meet others my age. If I’m on a new med, I post about it and ask about side effects. People look for solutions with insurance carriers. It’s good for moms, too.”
Shaw and his team hope to make use of a closed social media network or private teleconferencing with CF patients.
“In the near future, we’d like to Skype with each patient for the initial intake instead of making a phone call,” said Shaw. “By seeing the patient and talking to them, we can get a health history and better interpret the state of the disease with visual clues as well as verbal information. If possible, we’d like to facilitate video calls in group settings to provide psycho-social support.”
Shaw and Goggin firmly believe that accurate and timely communication can extend lives, and that patients today with CF are destined to live longer.
“With CF, you can actually see progress each year in the history of the disease. Fifteen years ago, life expectancy was in the late 20s. Now, a patient’s life expectancy, on average, is close to 40,” said Goggin. “There is joy in seeing these tangible improvements. With CF, we see it in the numbers.”
“Right now, our oldest patient in clinic is 68 years old,” said Shaw. “I do believe we will see patients in their 70s and 80s. With the right funding, research and clinical care, it will happen.”