What Is Cystic Fibrosis? Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride -- a component of salt -- to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky. In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF. In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children. Symptoms of CF People with CF can have a variety of symptoms, including: Very salty-tasting skin

Persistent coughing, at times with phlegm

Frequent lung infections including pneumonia or bronchitis

Wheezing or shortness of breath

Poor growth or weight gain in spite of a good appetite

Frequent greasy, bulky stools or difficulty with bowel movements

Male infertility Jay, a 6-year-old with CF Listen to CF clinicians explain: Which body parts are affected by CF

Common CF symptoms

How CF is treated

Diagnosis and Genetics Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene -- one copy from each parent. Both parents must have at least one copy of the defective gene.

People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are: 25 percent (1 in 4) the child will have CF

50 percent (1 in 2) the child will be a carrier but will not have CF

25 percent (1 in 4) the child will not be a carrier and will not have CF The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier. Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis. Read the CF Foundation’s clinical care guidelines for diagnosing CF. According to the Cystic Fibrosis Foundation Patient Registry, in the United States: More than 30,000 people are living with cystic fibrosis (more than 70,000 worldwide).

Approximately 1,000 new cases of CF are diagnosed each year.

More than 75 percent of people with CF are diagnosed by age 2.

More than half of the CF population is age 18 or older. Did You Know? More than half of the cystic fibrosis population is over 18. Share Share on Facebook [ektdesignns_placeholder_ID0EGIAC]

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What to Expect Cystic fibrosis is a complex disease and the types and severity of symptoms can differ widely from person to person. Many different factors, such as age of diagnosis, can affect an individual's health and the course of the disease.

https://www.instagram.com/p/BmQ4vb-hBn0/ Watch a video that provides a glimpse into the everyday life of Kaitlyn Broadhurst, a 25-year-old living with cystic fibrosis. Tremendous advancements in specialized CF care have added years and quality of life to the lives of people with cystic fibrosis. There have been dramatic improvements from the 1950s, when a child with CF rarely lived long enough to attend elementary school to today, with many living long enough to realize their dreams of attending college, pursuing careers, getting married, and having kids. https://www.instagram.com/p/BcXd57Uh29i/ Although there has been significant progress in treating this disease, there is still no cure and too many lives are cut far too short.

Treatments The type and severity of CF symptoms can differ widely from person to person. Therefore, although treatment plans can contain many of the same elements, they are tailored to each individual's unique circumstances.

Tré, a 24-year-old with CF, wearing his vest. People with CF and their families have expertise in how the disease affects them and how the context of their daily lives affect the way they approach their care. By acknowledging the respective roles, people with CF, their families, and clinical care teams can work together to develop treatment plans that align personal life goals with health goals. “My doctor and I decided to come up with a plan that would work for me. We were able to negotiate a deal so that I was doing more treatments than I had been, but I wasn’t just sitting at home hooked up to machines.” –-- Betsy Sullivan, a teenager with CF, from the CF Community Blog The CF Foundation accredits more than 130 care centers that are staffed by dedicated healthcare professionals who provide expert CF care and specialized disease management. Each day, people with CF complete a combination of the following therapies: Airway clearance to help loosen and get rid of the thick mucus that can build up in the lungs.

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

Pancreatic enzyme supplement capsules to improve the absorption of vital nutrients. These supplements are taken with every meal and most snacks. 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. The CF Foundation supports research to discover and develop new CF treatments and maintains a pipeline of potential therapies that target the disease from every angle.



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.

Research When a group of parents started the Cystic Fibrosis Foundation in 1955, there were no treatments for cystic fibrosis. These parents set their sights high -- to advance understanding of this little-known disease, to create new treatments and specialized care for their children, and to find a cure.