Q&A: How a Cystic fibrosis diagnosis has changed in recent years – WRAL News

By Jessica Patrick, WRAL senior multiplatform producer

May is Cystic Fibrosis Awareness Month.

I talked to an expert -- Dr. Stephanie Duggins Davis, a pediatric pulmonologist, chair of the UNC Department of Pediatrics and physician-in-chief of UNC Childrens Hospital -- to better understand what a CF diagnosis means for families.

Q: What is Cystic fibrosis (CF)?

CF is a chronic, inherited disease that is diagnosed at birth. The disease progresses through a patient's lifetime. It can result in trouble breathing, lung infections, digestive issues, weight loss and diabetes, among other complications.

People with CF have trouble clearing mucus from their lungs and airways, and around 80% to 85% of patients experience problems with digestion.

As a chronic disease, CF impacts multiple systems in the human body. There is no cure, but treatments have improved greatly in recent years, resulting in a longer lifespan for many patients.

Treatment begins early in life and consists of a care team of nutritionists, respiratory therapists, physical therapists, pharmacists, social workers, physicians and psychologists working together to care for patients and their families.

Q: What has changed about CF treatment in the last three decades?

According to Davis, lifechanging progress has been made in the medical care and prognosis for CF patients.

Decades ago, babies and children weren't diagnosed with CF until symptoms began to appear, but today, CF is identified at birth when a small blood sample is collected from newborn babies, usually in the delivery room.

Before a blood test was used to detect CF, babies would present with serious symptoms, including failure to thrive or trouble breathing.

In present day, earlier detection means babies can begin treatment right away, including the administration of enzymes (given orally) that aid in digestion. The enzymes help children achieve proper nutrition and weight gain, a crucial component of CF monitored in patients, especially during those earlier years.

"We're able to more aggressively treat these children right away," Davis explained. "And that's really important because we know that adequate nutrition leads to better lung function."

Q: What is the prognosis for CF patients?

Another hopeful sign and the result of research is that many CF patients are living twice as long as they used to.

"There's a lot of hope now, because we have fantastic drugs to help treat patients with CF. The mean average age for survival is much longer than it was two decades ago," Davis said. "It's absolutely amazing how well patients are doing."

Davis recalls a much different time earlier in her career when she would treat very sick children with CF in the hospital.

"In the 1990s, sometimes, we'd see teenagers dying in the hospital. It's been a medical miracle ... we hardly admit children to the hospital anymore with CF. That's how much healthier they are," she said.

Although it varies, most CF patients today are living to be in their late 40s or 50s, Davis explained. When they are first diagnosed during infancy, she is now able to tell young parents their children may outlive them.

"That instills hope for these parents," she said.

Q: How often do babies and children with CF have to go to the doctor?

Babies diagnosed with CF typically visit a pediatric pulmonologist every month to every other month during their first year of life.

"It's because we know that weight gain is so important," Davis explained. "During the first year, we educate the families about CF. Then as they move into the preschool years, we spread out [the appointments]."

Q: What does treatment look like over a patient's lifetime?

Babies who have difficulty digesting food and suffer from pancreatic insufficiency are treated with enzymes from birth. Patients are also prescribed specialized vitamins. Patients may be treated with modulator drugs, which are targeted to specific types of genetic mutations associated with CF.

Families will also learn the importance of airway clearance, which helps to clear mucus from their child's lungs.

The airway clearance can be performed manually using physiotherapy, when a parent or caregiver pats on the patient's chest and back to clear mucus.

By the age of two, patients can be fitted for a special vibrating vest that works to clear mucus from the airways. This is a more convenient option for older kids, teenagers and adults with CF.

Q: Will you describe the quality of life for a child with CF?

Children with CF should attend school and participate in all types of activities including sports, Davis said.

"We tell families we want to make sure the patients do not become a vulnerable child. Send them to school. If they want to be an athlete, put them out on the soccer field or put them in other types of sports," she said.

Davis said children with CF can have a relatively normal day, although they may use their airway clearance vest in the mornings and evenings and they have to take daily medications along with enzymes to digest food.

It's okay -- even good -- for patients to be around other children. However, children with CF are asked to stay several feet away from other children with CF, because bacteria may be passed back and forth between children affected by this disease.

Q: What happens as patients get older?

As children get older and approach their teenage years, care also focuses on mental health, with experts screening both patients and their families.

"That is really important because if you're depressed due to a chronic disease, you're not going to be very motivated to do your chest physiotherapy and take all your medicine," Davis said.

Some patients with CF will develop diabetes, and an endocrinologist will join the treatment team.

As CF progresses, specialized drugs called modulators can be used in some patients. Doctors are still researching and learning more about modulator drugs -- including when to introduce them and when other types of medications may be stopped once modulators are started. The results are promising, Davis said, and since they are administered in a pill form, it's less complicated for patients.

Despite a lifetime of medicines and airway clearance, most CF patients are able to thrive for much of their adulthood.

"Many patients get married, have children, have normal jobs, go to college. Again, it looks very different than it did three to four decades ago," Davis said.

Q: How common is CF?

According to Davis, CF is prevalent in about 1 in 2,500 to 1 in 3,400 Caucasian or white infants. While CF is equally prevalent in men and women, it is more common in Caucasian babies than in other races and ethnicities.

Q: Is there anything else people should know?

Davis once again referenced how much better life is now for patients with CF and their families.

The advances in medicine and CF treatment are largely due to funding and research by the National Institute of Health and the Cystic Fibrosis Foundation, which was actually started by the family of children inflicted with this disease.

"The Cystic Fibrosis Foundation spent a lot of money and partnered with pharmaceutical companies to try to identify these specific modulators that have made such a difference for these families," Davis said.

Davis said it has been an honor to treat patients and families over the years while participating in life-changing research.

"It's the partnership between the care team, the family and the Cystic Fibrosis Foundation working together to care for these children and to change the face of CF," she said. "I think it's been an example of what you can really do in chronic disease when money is put forth for research and you all work together."

People can give to the Cystic Fibrosis Foundation online or register for one of three Great Strides walking events in Raleigh, Durham and Chapel Hill on May 14.

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Q&A: How a Cystic fibrosis diagnosis has changed in recent years - WRAL News