Cystic fibrosis is...
a chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (100,000 worldwide). A defective gene and its protein product causes the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections. The mucus also obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
What is cystic fibrosis?
Cystic fibrosis is a life-threatening disease that causes mucus to build up and clog some of the organs in the body, particularly in the lungs and pancreas. When mucus clogs the lungs, it can make breathing very difficult. The thick mucus also causes bacteria (or germs) to get stuck in the airways, which causes inflammation (or swelling) and infections that leads to lung damage. Mucus also can block the digestive tract and pancreas. The mucus stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help us grow and stay healthy. People with cystic fibrosis often need to replace these enzymes with capsules they take with their meals and snacks to help digest the food and get the proper nutrition.
How do people get cystic fibrosis?
Cystic fibrosis is a genetic disease. To have cystic fibrosis, a person must inherit two copies of the defective CF gene — one copy from each parent.
Who gets cystic fibrosis?
Approximately 30,000 people in the United States have cystic fibrosis. An additional 10 million more — or about one in every 31 Americans — are carriers of the defective CF gene, but do not have the disease. The severity of cystic fibrosis symptoms is different from person to person.
How does CF affect the lungs?
It all begins with defective CF genes. Normally, the healthy CF gene makes a protein — known as CFTR (cystic fibrosis conductance transmembrane regulator) — that is found in the cells that line various organs, like the lungs and the pancreas. This protein controls the movement of electrically charged particles, like chloride and sodium in and out of these cells. When the protein is defective, as in cystic fibrosis, the salt balance in the body is disturbed. Because there is too little salt and water on the outside of the cells, the thin layer of mucus that helps keep the lungs free of germs becomes very thick and difficult to move. And because it is so hard to cough out, this mucus will clog the airways and lead to infections that damage lungs.
Does CF affect other parts of the body too?
The mucus that builds up in people with CF can block tubes, or ducts, in the digestive system. The pancreatic duct is especially vulnerable; when it is blocked, enzymes that help digest food cannot reach the intestines, and the body cannot properly absorb nutrition from food. The resulting malnutrition compromises the body’s immune system and can lead to diarrhea, poor growth and weight loss. The reproductive system is also affected by CF, which can cause infertility, particularly in men. At least 97 percent of men with CF are infertile but are not sterile; they can have children with assisted reproductive techniques. Some women also have fertility difficulties due to thickened cervical mucus or malnutrition.
Is cystic fibrosis fatal?
Currently, there is no cure for cystic fibrosis. However, specialized medical care, aggressive drug treatments, and therapies, along with proper CF nutrition, can lengthen and improve the quality of life for those with CF.
What is the life expectancy for people who have CF?
It is not possible to accurately predict how long a person who has CF will live. Many different factors — for example, severity of disease and age at diagnosis — can affect an individual’s health and the course of the disease. Recent research has shown that the severity of CF symptoms is based partly on the type of CF gene mutations a person has.
The CF Foundation Patient Registry collects information on the health of the more than 27,000 people treated at CF Foundation-accredited care centers. According to the most recent Patient Registry data, the median predicted age of survival for people with CF is in the early 40s. Median predicted age of survival is the age by which half of the people tracked in the Patient Registry would be expected to survive, given the ages of the patients in the Registry and the distribution of deaths in a particular year.
In the 1950s, children with CF were not expected to live long enough to attend elementary school. Today, approximately half of all people with CF in the United States are 18 years or older. The steady “aging” of the CF population reflects the remarkable progress that has been made in understanding and treating CF. Thanks to CF Foundation-supported research and care, an increasing number of people with CF are living well into adulthood and leading healthy lives, pursuing careers, getting married and having children of their own.
What is a typical day for someone with CF?
Because the severity of CF differs widely from person to person, and CF lung infections flare up from time to time, there is no “typical” day. However, each day most people with CF:
Take pancreatic enzyme supplement capsules with every meal and most snacks. Do some form of airway clearance at least once and sometimes up to four or more times a day. Take aerosolized medicines—liquid medicines that are made into a mist or aerosol and then inhaled through a nebulizer.
What treatments or therapies are available?
Since CF affects the lungs of most patients, a large part of the medical treatment is to clear mucus from the airways by using different airway clearance techniques. These techniques use vibrations to help loosen the mucus in the lungs so it can be coughed out. There are several medications that treat lung infections and can help people with cystic fibrosis breathe better.
Is gene therapy a treatment for people with CF?
When scientists found the most common gene that causes CF in 1989, there was much excitement about the possibility of developing gene therapy. Scientists are currently exploring the use of gene therapy for many diseases but have had little success. That is because it has been very hard to find a safe and reliable way to deliver healthy genes into the cells and tissues of the body.
When will there be a cure?
Because CF researchers are blazing new trails in drug development and gene therapy, experts have no way of saying for sure when a cure will be available. The “aging” of the cystic fibrosis community is largely due to the increase in innovative new treatments and specialized medical care. But a better quality of life and partially increased length of life are simply not enough. That is why the CF Foundation’s efforts to expand and strengthen the drug development pipeline of potentially life-saving new therapies while, at the same time, supporting a vital care center network.