Diagnosed With Cystic Fibrosis

If you or your child has just been diagnosed with cystic fibrosis, or your doctor has recommended testing for CF, you may have many questions.

What Is Cystic Fibrosis?

Cystic fibrosis is a complex, chronic disease that primarily affects the lungs and digestive system.

More than 30,000 children and adults in the United States have CF (70,000 worldwide).

People with CF inherit two copies of a defective gene -- one copy from each parent -- that produces a faulty protein, causing a buildup of thick mucus in the lungs, pancreas, and other organs.

When mucus clogs the lungs, it can become very difficult for a person to breathe. The thick mucus also allows for germs to thrive and multiply, which can result in infections and inflammation and often leads to severe lung damage and respiratory failure. Respiratory problems are the most serious and persistent complication for people with CF.

Cystic fibrosis causes changes in many parts of the body, including the lungs, pancreas, liver, intestines, sinuses, reproductive system, and sweat glands.

In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body break down food and absorb important nutrients. People with CF often have malnutrition and poor growth.

The thick mucus can also block the bile duct in the liver and, in some people with CF, can cause liver disease. In men, CF can affect their ability to have children. However, CF does not affect sexual development in either men or women.

CF does not affect many things. It does not cause mental retardation or learning problems. It is not cerebral palsy (sometimes called CP). It does not affect mobility or mean a person will have to use a wheelchair.

Babies with CF grow, develop, and do what other babies do. Children with CF go to school, play sports, and get their driver's licenses. People with CF can go to college, pursue successful careers, and have families of their own.

Today, because of improved medical treatments and care, almost half of people with CF are age 18 or older. Many people with CF can expect to live healthy, fulfilling lives into their 30s, 40s, and beyond.

Watch a brief video on how clinical research has made a difference in the lives of people with CF. 

Read the Foundation's Patient Registry Reports.

Watch CF clinicians discuss:

  • What CF is
  • How CF is diagnosed
  • Newborn screening

The Symptoms

The type and severity of CF symptoms can differ widely from person to person.

The most common symptoms are:

  • Very salty-tasting skin
  • Persistent coughing, at times with phlegm
  • Frequent lung infections, such as pneumonia or bronchitis
  • Wheezing or shortness of breath
  • Poor growth or poor weight gain in spite of a good appetite
  • Frequent greasy, bulky stools or difficulty in bowel movements
  • Small, fleshy growths in the nose, called nasal polyps
  • Chronic sinus infections
  • Clubbing or enlargement of the fingertips and toes
  • Rectal prolapse (when the rectum sticks out through the anus) 
  • Male infertility

Learn more about CF -- from diagnosis to living with the disease as an adult -- in "An Introduction to Cystic Fibrosis: For Patients and Their Families," or watch the video series.

Testing

Diagnosing CF is a multistep process.

A complete diagnostic evaluation for CF should include a sweat chloride test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center.

Most children are now screened for CF at birth through newborn screening and the majority are diagnosed by age 2. However, some people with CF are diagnosed as adults. A doctor who sees the symptoms of CF will order a sweat test and a genetic test to confirm the diagnosis.

Most people with CF are diagnosed quickly, although in some cases the diagnosis is not clear and subsequent tests may be recommended.

Read the Foundation's guidelines for diagnosing CF.

Watch the video from Nemours to learn more about what your pediatrician should know when testing for CF.

Therapies for Cystic Fibrosis

People with cystic fibrosis are living longer and more fulfilling lives, thanks in part to specialized CF care and a range of treatment options. 

To stay healthy, people of all ages with CF must follow a regular treatment routine. In addition to a nutrition and fitness plan, there are drugs that help clear the thick, sticky mucus from airways and reduce inflammation, antibiotics to treat CF lung infections, and emerging therapies that target the defective cystic fibrosis transmembrane conductance regulator (CFTR) protein in CF to improve different symptoms of the disease. 

Your Care Team

Cystic fibrosis is a complex, chronic disease that requires expert care.

The CF Foundation's nationwide network of more than 120 centers is staffed by dedicated health care professionals who provide specialized care and programs for people living with CF and their families.

CF Foundation-accredited care centers are at the forefront of driving improvements in the standard of care for people with CF and have been essential to improving the length and quality of life for people with the disease. 

Key to the progress in the health and well-being of people with CF are the highly specialized, multidisciplinary teams of health care professionals at each center who work closely with people with CF and their families to customize care based on each individual's unique needs.