Staying Healthy and Living Longer with Cystic Fibrosis

People with chronic conditions often find great comfort in support groups. It can be helpful to meet with others who understand what it’s like to live with a condition and to share advice.

For people with cystic fibrosis, in-person support groups or gatherings aren’t possible.

Those who have this genetic disease, which causes sticky mucus to build up in the lungs and airways, carry virulent bacteria that can make them very sick. They must stay 6 feet from other people with cystic fibrosis to avoid passing these germs back and forth.

That long-standing distancing rule is just one of the mostly invisible burdens people with cystic fibrosis carry. They are prone to infections and hospitalization and have a significantly shorter life expectancy than the general public.

“People with cystic fibrosis generally don’t appear sick, but they can actually be quite ill. That can be frustrating for the patients to have to explain to others, over and over again,” says UNC Health adult and pediatric pulmonologist Jennifer Goralski, MD. “Their body is fighting a battle every day.”

The Basics of Cystic Fibrosis

Cystic fibrosis affects about 1 in 2,500 to 3,500 white newborns. The disease is much less common in racial minorities; for example, about 1 in 17,000 African American babies is born with it. Most people are diagnosed as babies or children; today there is a standard newborn screening that checks for it.

Cystic fibrosis is inherited, but often, babies born with it are the first in their family to have the disease. Everyone has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene; CFTR is a protein that helps regulate the flow of fluids and salt in the body’s cells.

If you have a mutation in only one copy of your CFTR genes, you are a carrier but will not have the disease. If both your parents are carriers, you have a 25 percent chance of being born with cystic fibrosis. About 1 in 30 white people carry a defective CFTR gene, Dr. Goralski says.

In people with cystic fibrosis, mutations in the CFTR gene result in the CFTR protein not being made at all, or it doesn’t work properly. This leads to a buildup of thick, sticky mucus that causes lung infections, digestive problems and other complications.

It’s common for the pancreas to not function properly in patients with cystic fibrosis, meaning it doesn’t make enzymes essential for the digestion of food, Dr. Goralski says. This can be particularly dangerous for infants and used to be a major cause of early death; fortunately, treatments are now available.

Symptoms of Cystic Fibrosis

Symptoms of cystic fibrosis are varied, and most newborns in the United States are diagnosed before they show symptoms. But for those who do develop symptoms, they may include:

  • A persistent cough with mucus
  • Wheezing
  • Frequent lung infections
  • Recurring sinus infections
  • Poor growth
  • Severe constipation
  • Foul-smelling or greasy stools
  • Very salty-tasting skin

Cystic fibrosis requires frequent doctor visits and lots of medication, Dr. Goralski says. “It is a very time-consuming disease.”

One symptom that is often noticeable? Coughing. That can be especially stigmatizing when people with cystic fibrosis are around others.

“These people cough frequently, and it doesn’t mean they’re infectious to other people,” she says.

Treatment for Cystic Fibrosis

Treatment and therapy for cystic fibrosis include:

  • Inhaled medications, including antibiotics and mucus thinners. The typical patient is on three or four of these nebulized treatments, often taken multiple times daily, Dr. Goralski says.
  • Airway clearance techniques to clear mucus from the airways. These can be delivered via a mechanical device, such as a vibrating vest, a handheld device, or by manual chest physical therapy, which can include clapping on the chest and forcefully coughing.
  • CFTR modulator therapies, which are oral medications that correct the malfunctioning CFTR protein.
  • Enzyme capsules taken with food to aid digestion. People with cystic fibrosis take multiple capsules every time they eat, Dr. Goralski says.
  • Additional vitamins and supplements to support nutrition.

Advances in Treating Cystic Fibrosis

Thanks to better treatments and increasing understanding of the disease, people with cystic fibrosis can feel more hopeful than ever before, Dr. Goralski says. Not long ago, almost everyone with cystic fibrosis died in childhood. In the 1970s and ’80s, people with cystic fibrosis rarely lived past their 20s. Today, more than 50 percent of people with cystic fibrosis in the United States are adults.

The life expectancy of people with cystic fibrosis who were born between 2014 and 2018 is currently just 44 years, but many of them will live beyond that. And that number will continue to improve, Dr. Goralski says.

One of the biggest reasons for optimism is a drug called Trikafta. This new CFTR modulator therapy, approved in October 2019 for patients ages 12 and older, has been effective for the most common cystic fibrosis mutation. Studies in younger children are ongoing.

Trikafta “has had a phenomenal effect for many patients, not only in lung function but also daily symptoms. Anecdotally, we’ve seen a significant reduction in hospital admissions,” Dr. Goralski says. The UNC Adult Cystic Fibrosis Center follows 325 to 350 patients, and typically between 10 and 15 are in the hospital at any given time. Since the introduction of Trikafta, that number has fallen to an average of three or fewer at a time.

The drug brings new hope for prolonging life and improving quality of life, Dr. Goralski says. That’s why she counsels concerned parents not to read older websites and blogs, which are full of outdated or incorrect information.

“It’s truly been amazing for me, when I get to talk to these parents who have a newborn who has been diagnosed with CF,” she says. “I am able to tell them how much research has advanced the care of this disease. I tell these parents that I expect their child to go to college, have a career and have a family. We have big expectations for children born with CF today.”

Learn more about how UNC Health treats children and adults with cystic fibrosis.