Living with cystic fibrosis

It may be the most common recessive genetic disorder, but that doesn’t mean that living with cystic fibrosis (CF) is at all easy. We talked to Jeannine Cheatham, MS, RN, APN, a pediatric clinical nurse specialist and UChicago Medicine’s CF center coordinator, about life with the disease.

What is cystic fibrosis (CF) and how do you get it?

Cystic fibrosis is a genetic disease that has something called “autosomal recessive inheritance,” which means that both parents have to carry the gene for it. If you’re a carrier of the gene, you’re not affected. Cystic fibrosis is a genetic condition that affects parts of the body that excrete secretions: the sinuses, the lungs, the GI tract, the reproductive tract and the sweat glands. The secretions become thick and sticky and block the function of that organ or organ system. Classic CF affects more body systems but the degree of organ dysfunction can be different depending on which gene mutations are present. Some have difficulty gaining weight because the pancreatic enzymes are reduced. Cystic fibrosis affects the whole body but principally affects your lungs and your GI tract.

How common is cystic fibrosis?

More than 30,000 individuals in the United States have CF. Carrier status can be one in 25 people if you’re of European Caucasian background. It’s less common in people of color (African Americans or Hispanic Americans), but it is found in all countries around the world. It’s a little more common in North America.

Without being diagnosed, how might one know if they had cystic fibrosis?

You can have problems with your pancreas with loose and frequent stools, difficulty maintaining your weight, low fat soluble vitamin levels, and poor nutrition. Having recurring pneumonias is another sign. Sometimes we see patients sent from the Ear Nose and Throat (ENT) clinic because they have recurrent sinus infections and nasal polyps. In this case, the ENT specialist will refer them for a CF test. Another less frequent way that we discover CF is if male patients are seen in the fertility clinic due to difficulty starting a family. Since most male patients with CF are infertile, occasionally the fertility clinic refers male patients to us for a test.

How is cystic fibrosis treated?

All CF patients get airway clearance on a daily basis to clear the mucus from their lungs. We also treat patients with mucolytics, which are inhaled medications that helps to thin mucus. The key things to know are what genes patients carry and what clinical problems they are manifesting. It’s important to know what kind of gene a patient has, because there are treatments available for patients with certain CF genetic types. In addition, we treat each clinical problem a CF patient experiences. If there’s a known infection in the lungs, it’s treated with antibiotics. If you have pancreatic problems, patients take pancreatic enzymes every time they eat something with protein or fat. CF patients are known to have vitamin deficiencies, so they can also be on a special CF vitamin. We also treat sinus symptoms or if you develop liver disease (about 10 percent of patients), there are special therapies for that.

Can cystic fibrosis patients lead an active lifestyle?

Absolutely. In fact, they tend to be resilient because they don’t want to be defined by the disease. Most patients have full time jobs and go to college. They’re encouraged to have very normal lives.

Do individuals with cystic fibrosis need a special diet?

On the contrary to the majority of us who are supposed to be heart healthy with low fat and low salt, CF patients are encouraged to have a high calorie, high protein diet, with no salt restriction. They need 150 percent of the calories that we would have and tend to sweat more salt, so they can have higher calorie meals on a regular basis. As patients are getting older and living longer, we’re discovering that a healthy diet, rich in protein, rich in calories is most effective.

Can cystic fibrosis patients participate in athletics?

We used to worry about the calorie expenditure of CF patients who wanted to participate in athletics. However, researchers have found when looking at care centers around the world that CF patients do best not only with an aggressive approach to infection, but also through promotion of exercise from the beginning of life. We encourage regular exercise and participating in team sports, because we know it’s good for the patients’ lungs. For some patients, exercise helps the lungs more than other necessary treatments. Just getting on the treadmill, going swimming, or riding a bike can help.

What are ways cystic fibrosis patients can get extra salt?

If you are doing any kind of excessive sweating, you run the risk of reducing your body’s salt levels. CF patients want to put that back into their bodies. They’re encouraged to have salty snacks or Gatorade - anything that’s hydrating and contains salt. Infants are supplemented with salt by adding it to their formula until they’re a little bit over a year old. Older children and adults are encouraged to replace the salt by salting their food extra or eating salty snacks.

How do you know that cystic fibrosis patients are getting proper nutrition?

A lot of it is their weight and their ability to fight infection. We always graph the lung function along with the growth curves because often they’re married to each other. Your ability to fight infections is based on your nutrition. If you have a lot of infection, you won’t be able to keep your weight up, because your calorie amounts go up again. We watch the patient’s growth curve, we see them in clinic, the dietician sees them often, and we watch their vitamin levels to ensure proper nutrition.

Can cystic fibrosis patients still have children?

Yes, they can. Women with CF can have children naturally. We watch their lung function very carefully because baby to term can be very taxing on the respiratory tract. If your lungs are scarred it may cause problems. However, if a woman is otherwise healthy, she can have children. Men with CF are generally infertile or azoospermic. They can have children but will require a fertility specialist to be involved for artificial insemination.

If I have cystic fibrosis, does that mean that I’ll need surgery?

Everybody is different. Infants with CF sometimes have blockage in their bowels, which due to mucus blocking the bowel and pancreas. If they don’t pass their first stool, they’ll be worked up for CF because they may need the blockage removed. For older individuals with CF, it’s possible they may need sinus surgery or polyp removal from their sinuses. There’s no added risk for surgery if patients have a sinus disease. Down the road, as the lungs become more affected, patients may need a feeding tube, a central line or a lung transplant. Otherwise, CF patients don’t necessarily need surgery more than others.

How long do individuals with cystic fibrosis live?

The median life expectancy is about 40 years. In my career, I’ve seen it go from 20 to now nearly 40. The advances in the antibiotics, various treatments, the utilization of an aggressive approach and newer medications to treat the basic gene problem have really changed the outlook for patients.

What are ways to take caution if I have the gene?

If you know you and your spouse are carriers of the gene, there’s always a 25 percent chance with each pregnancy that you will have a child with cystic fibrosis and a 50 percent chance you will pass on your carrier status. You can be tested when you’re pregnant to find out if the baby has CF. There are fertility doctors you can see that could actually look at embryos to see which ones could have CF, but the practice is quite advanced and often not something accessible to everyone. Pregnant women can find out if the baby has CF through ultrasound and testing.