What is cystic Fibrosis? 

Cystic fibrosis (CF) is a chronic, life-threatening genetic disease that affects the lungs, digestive system, reproductive system, and sinuses.  Approximately 30,000 people in the U.S., and about 70,000 worldwide, have CF.

CF is caused by a defective CFTR gene, which affects the production of protein in the cells and causes the body’s mucus to be thicker and stickier than that of people without CF.  This mucus builds up in the lungs and creates a welcoming environment for multiple bacteria that cause life-threatening lung infections, leading to permanent damage and scarring over time.  The mucus also clogs the pancreas and prevents the body from delivering the enzymes necessary for breaking down and absorbing the nutrients in foods.

As recently as 50 years ago, children diagnosed with CF rarely lived to see elementary school.  Now, because of better research and treatments, many people with CF live to see their 30’s, 40’s, and beyond.

There is no cure for cystic fibrosis.

Symptoms of CF

People with CF have a variety of symptoms, including:

  • very salty-tasting skin

  • persistent coughing, sometimes sounding “productive”

  • frequent lung infections

  • wheezing or shortness of breath

  • poor growth and slow weight gain, despite a good appetite

  • digestive issues

  • sinus issues

  • infertility issues, including sterility

How Do People Get CF?

Cystic fibrosis is a recessive, genetic disease.  It is caused by mutations in a gene that produces a protein called CFTR.  This protein controls the flow of salt and water in and out of the cells of organs like the lungs and pancreas.  To have CF, a person must receive two copies of a defective CFTR gene--one from each parent.  Both parents have have a copy of the defective gene.

People with one copy of the defective CF gene are called carriers, but they do not have CF.  Approximately 1 in 31 Americans is a carrier of the defective CF gene.  For each pregnancy between two carriers, the odds are:  1 in 4 of having a child with CF, 2 in 4 of having a child who is a carrier, and 1 in 4 of having a child who is not a carrier and does not have CF.

There are more than 1,800 known disease-causing mutations, and most genetic tests only screen for the most common mutations.

How Is CF Diagnosed?

CF is often caught through newborn screening and then diagnosed with a sweat test and/or genetic (blood) test.  The sweat test measures the amount of salt in a person’s sweat.  A mild chemical and a small amount of electricity are placed on the skin (usually the arm) to stimulate the sweat glands.  Sweat is then collects, and the amount of chloride is measured.  A high level of chloride means the person has CF.  The sweat test is painless.

How Is CF Treated?

Treating a complex disease like CF requires therapies that address problems in different parts of the body, especially the lungs and the digestive system.

Because the type and severity of CF symptoms can differ widely from person to person, there is no typical treatment plan for people with the disease. CF Foundation-accredited care centers work closely with people with CF and their families to create individualized treatment plans.

However, each day, most people with CF typically:

  • Do some form of airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs. Some airway clearance techniques require help from family members, friends or respiratory therapists. Many people with CF use an inflatable vest that vibrates the chest at a high frequency to help loosen and thin mucus.

  • Take inhaled medicines — liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer. These medicines include antibiotics to fight lung infections and therapies to help keep the airways clear.

  • Take pancreatic enzyme supplement capsules with every meal and most snacks to improve absorption of vital nutrients. People with CF also usually take multivitamins.

  • An individualized fitness plan to help improve energy, lung function, and overall health

  • CFTR modulators to target the underlying defect in the CFTR protein. Because different mutations cause different defects in the protein, the medications that have been developed so far are effective only in people with specific mutations.

Today, the Foundation is focused on developing lifesaving new therapies for larger numbers of people with CF — including those with rare and nonsense mutations — and pursuing daring, new opportunities to one day develop a lifelong cure.

Work is ongoing to find additional CF therapies that could help improve key symptoms of the disease by targeting the disease at its root.