Cystic Fibrosis: Information on the Disease

Cystic Fibrosis is a life threatening disease that causes mucus to build up and clog some of the organs in the body, typically in the lungs and pancreas. Mucus clogging the lungs makes breathing very difficult. This thick mucus also causes bacteria to get stuck in the airways, which causes inflammation and infections that lead to lung damage. Mucus may also block the disgestive tract and pancreas. It stops digestive enzymes from getting to the intestines. The body needs these enzymes to break down food, which provides important nutrients to help one grow and stay healthy. People with CF often must replace these enzymes with capsules that they take with their meals to help digest the food and get the proper nutrition they need.

Cystic Fibrosis is a genetic disease, meaning people inherit it from their parents through genes. The defective gene responsible for causing this disease is on chromosome 7. To have CF, a person must inherit two copies of the defective gene, one copy from each parent. If both parents are carriers of the CF gene, their child will have a 25% chance of inheriting both defective copies and having Cystic Fibrosis. They will have a 50% chance of inheriting one defective copy and being a carrier and a 25% chance of not having or carrying the gene at all.

About 30,000 people in the United States have CF and about 1 in every 31 Americans are carriers of the defective gene, but do not have the disease. It is found to be most common in caucasions, but can affect any race. The severity of symptoms is different for each person. The most common symptoms are:
Very salt-tasting skin.
A large appetite with poor weight gain.
Persistant coughing, wheezing or shortness of breath.
Greasy, bulky bowel movements.
Small, fleshy growths in the nose called nasal polyps.
Many lung infections, such as bronchitis or pneumonia.

CF is diagnosed either by a sweat test or genetic test. Most people are diagnosed before the age of 3 years old. Sweat tests are more commonly used to diagnose Cystic Fibrosis. This is where a small electrode is placed on the skin to stimulate the sweat glands. The sweat is collected and the amount of chloride, a component of salt in the sweat, is measured. A high level of chloride will indicate that a person has Cystic Fibrosis. A genetic test is usually only used if the results from a sweat test come back unclear. For this test, a blood sample or cells from inside the cheek are taken and sent to a lab to see if any of the various mutations of the CF gene are found.

As of now, there is no cure for Cystic Fibrosis, however there are treatment and therapy options available. Since one of the most common symptoms of CF is affecting the lungs, a large part of the medical treatment is to clear the mucus fromt he airways by using different airway techniques. These techniques use vibrations to help loosen the mucus in the lungs so it can be coughed out. Airway clearance techniques are often used with other treatments, like inhaled bronchodilators and antibiotics.

There are more than 100 nationwide CF Foundation accredited care centers to help people diagnosed with CF. It is a complex disease that affects so many parts of the body, so proper care requires specialized knowledge. To find a care center nearby, you may call 1-800-FIGHTCF.

If you or a loved one has been diagnosed with CF, there are many options available for you. With the many care centers available, therapies, and treatment options, there is much hope for life with CF. Because so many treatments are available today, many people with CF are living longer, healthier lives than ever before. Although this disease has no cure, you do have great options for help with treating it. Strength, courage, and determination are all very important to have in dealing with any disease, Cystic Fibrosis is no different. Keep high hopes and stay positive. If a loved one is going through this, be there for them as much as possible. Remember to be as supportive as you can and help them to live as normal of a life as they possibly can. Best wishes to you and your family, I know this is a very difficult and emotional disease to deal with, just try to keep your head up and be strong.