When Your Child Has Cystic Fibrosis (CF)

Cystic fibrosis (CF) is a serious, chronic, inherited disorder of the glands that make mucus and sweat (secretory glands). It can range from mild to severe. It is caused by a defect that leads to an imbalance in the flow of water and salt into and out of cells. Doctors usually diagnose this disease during the first two months of a child’s life.

Front view of child showing respiratory and digestive systems.

What parts of the body are affected by cystic fibrosis?

Cystic fibrosis often affects organs that make mucus, tears, sweat, saliva, and digestive juices. Secretions become thicker, so they don’t flow as freely. This can cause blockages. Cystic fibrosis often affects the respiratory and digestive systems. In later years, it can also affect the reproductive system. In the lungs, thickened mucus can trap bacteria. This can lead to serious infections. In the digestive system, the enzymes that break down food are blocked. Without them, the intestines can't fully absorb fats and proteins. This condition can lead to vitamin deficiency and malnutrition. In later stages, your child may develop other medical conditions. These might include a high glucose level in the blood (diabetes), liver disease, or an inflammation of the pancreas (pancreatitis).

What are the symptoms of cystic fibrosis?

Cystic fibrosis affects many systems and can cause a lot of symptoms. Your child may have these symptoms:

Respiratory symptoms

  • Thick mucus in lungs (sputum)

  • Frequent coughing, wheezing, or shortness of breath

  • Coughing of thick, sometimes bloody mucus

  • Chronic lung or sinus infections

  • Fleshy growths in the nose, called nasal polyps

Digestive symptoms

  • Intestinal blockages, preventing the passage of stool in a newborn (meconium ileus)

  • Chronic diarrhea with greasy, foul-smelling, large stools

  • Abdominal cramping or pain

  • Slow growth, malnutrition, or trouble gaining weight despite a big appetite

Other symptoms

  • Salty skin

  • Enlarged ends of fingers and toes (clubbing)

How is cystic fibrosis diagnosed?

A blood test to screen for CF is given to babies in the first two weeks of life. If this test is positive, a sweat test is then done to confirm the diagnosis. The sweat test measures the amount of salt in a child’s sweat. People with cystic fibrosis have high levels of salt in their sweat. A sweat test is often the only test that’s needed for diagnosis. Your child may have other tests to evaluate his or her condition, including:

  • Blood tests to measure levels of vitamins and minerals or to check liver function

  • Chest X-rays to view the lungs

  • Lung (pulmonary) function tests to check breathing

  • Sputum cultures to check for lung infection

  • Stool evaluations to check for absorption of fat

  • DNA tests to confirm diagnosis, if needed

How is cystic fibrosis managed?

There is no cure for cystic fibrosis. Instead, the goal of treatment is to control your child’s symptoms and slow the progress of the disease. To manage cystic fibrosis, your child will likely need:

  • Medicine to prevent or treat infections, open airways, or thin mucus

  • Pancreatic enzymes to aid absorption of nutrients

  • Certain vitamins

  • Changes in diet, such as including extra calories, salts, and fluids

  • Chest physical therapy

  • Exercise

Depending on the gene that is causing cystic fibrosis, some people are prescribed the new cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies. These therapies can help the defective protein made by the gene work properly. These are only for people with very specific gene mutations. Ask your provider if they are appropriate for your child. 

What are the long-term concerns?

Many people with cystic fibrosis can now expect to live into their 30s to 40s, and beyond. Improvements in treatment may extend lives even longer. Your child will need regular medical care for life. He or she will need to maintain regular contact with doctors and other healthcare providers, such as nutritionists. Your child may be able to use the services of a cystic fibrosis center, where there are healthcare providers trained in treating this disease.

Coping with cystic fibrosis

  • Many parents feel guilty that they have “passed along” CF. But your child’s health problems are not your fault. Since it does run in families, any other children you have should be tested for cystic fibrosis.

  • As with many chronic diseases, cystic fibrosis can seem to take over your life. Make sure to get support to help you cope. Ask your healthcare team or check the Internet for CF support groups. And, especially at the beginning, focus on getting through one day at a time. Talk with a professional counselor about ways to help you and your child manage the emotional and behavioral issues that can go along with this disease.