Cystic fibrosis is a life-threatening, genetic disease that causes persistent lung infections and progressively limits the ability to breathe. It is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys and intestines. It is a disease of the secretory glands, which include glands that make mucus and sweat. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.
Cystic fibrosis is a recessive disorder, which means that both parents must pass on the defective gene for their children to get the disease. If a child receives only one copy of the faulty gene from one parent, it will make him or her a carrier but he or she will not have the disease. Carriers do not have the disease because it requires both copies of the faulty genes, however, they can pass it on to their children. If both parents are carriers there is a 1 in 4 chance that both will pass on the non-functioning gene.
The main signs of cystic fibrosis are the accumulation of thick and sticky mucus, salty-tasting skin, poor growth and poor weight gain. Many times frequent chest infections, coughing or shortness of breath may be indications of cystic fibrosis. Symptoms of cystic fibrosis may start occurring in infancy and childhood. A more comprehensive list of symptoms include:
You can learn more from the Cystic Fibrosis Foundation.
People who have cystic fibrosis have thick, sticky mucus that builds up in their airways. This buildup of mucus makes it easier for bacteria to grow and cause infections. Infections can block the airways and cause frequent coughing that brings up thick spit or mucus that is sometimes bloody.
People who have cystic fibrosis tend to have lung infections caused by unusual germs that don't respond to standard antibiotics. For example, lung infections caused by bacteria called mucoid pseudomonas are much more common in people who have cystic fibrosis than in those who do not. An infection caused by these bacteria may be a sign of cystic fibrosis. Those infected tend to have frequent infections of the sinuses, hollow air spaces around the eyes, nose, and forehead. These infections can cause long-term lung damage.
As cystic fibrosis gets worse, you may have more serious problems such as bronchiectasis or even need nasal surgery. Bronchiectasis is when there is extensive damage to the lung’s airways that cause them to widen and become flabby and scarred. It injures the walls so much that the airways are unable to clear mucus, which can lead to severe infections and lack of oxygen flow to other parts of your body. Lung function often starts to decline in early childhood in people who have cystic fibrosis. Over time, damage to the lungs can cause severe breathing problems. Respiratory failure is the most common cause of mortality in people who have cystic fibrosis.
In cystic fibrosis, mucus can block tubes or ducts in your pancreas. These blockages prevent enzymes from reaching your intestines. As a result, your intestines cannot fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, smelly, greasy stools. Intestinal blockages also may occur, especially in newborns. Too much gas or severe constipation in the intestines may cause stomach pain and discomfort.
A hallmark of cystic fibrosis in children is poor weight gain and growth. These children are unable to get enough nutrients from their food because of the lack of enzymes to help absorb fats and proteins. As cystic fibrosis gets worse, other problems may occur, such as:
Since cystic fibrosis can begin showing symptoms in infants, testing approaches vary on age. All states screen newborns for cystic fibrosis using a genetic test or a blood test. The genetic test shows whether a newborn has faulty CFTR genes. The blood test shows whether a newborn's pancreas is working properly.
If a genetic test or blood test suggests cystic fibrosis, a doctor will confirm the diagnosis using a sweat test. This test is the most useful test for diagnosing cystic fibrosis. A sweat test measures the amount of salt in sweat. For this test, the doctor triggers sweating on a small patch of skin on an arm or leg. He or she then rubs the skin with a sweat-producing chemical and then uses an electrode to provide a mild electrical current. This may cause a tingling or warm feeling. Sweat is collected on a pad or paper and then analyzed. The sweat test usually is done twice. High salt levels confirm a diagnosis of cystic fibrosis.
If you or your child has cystic fibrosis, your doctor may recommend other tests, such as:
If you're pregnant, prenatal genetic tests can show whether your fetus has CF. These tests include amniocentesis and chorionic villus sampling (CVS). In amniocentesis, your doctor inserts a hollow needle through your abdominal wall into your uterus. He or she removes a small amount of fluid from the sac around the baby. The fluid is tested to see whether both of the baby's CFTR genes are normal. In CVS, your doctor threads a thin tube through the vagina and cervix to the placenta. The doctor removes a tissue sample from the placenta using gentle suction. The sample is tested to see whether the baby has cystic fibrosis.
Cystic Fibrosis Carrier Testing
If you have a family history of fibrosis or a partner who has it and you are planning a pregnancy, you may want to find out whether you're a fibrosis carrier. A genetics counselor can test a blood or saliva sample to find out whether you have a faulty CF gene. This type of testing can detect the faulty genes in 9 out of 10 cases.
Cystic fibrosis currently has no cure, but there are several treatments that patients can utilize to help manage this disorder. Recent developments in treatment methods have enabled individuals to lead a fuller life without much disruption from the disorder. Pulmonary rehabilitation is a form of cystic fibrosis management that continues throughout the individual’s life, maximizing organ function and quality of life. Treatment is meant to delay the decline in organ failure. Currently, these are the different treatments for cystic fibrosis:
Your cystic fibrosis doctor may prescribe many medications to help keep your lungs clear, prevent or fight infections and help correct the underlying cause of the disease. Medications that people need to fight infections for a long time may require additional devices such as PICC lines and ports.
At Care+Wear, we believe that everyone should feel like a person first and a patient second. As a result, we have created a PICC line cover and port access shirt that you can check out here. You can also read about other patient stories here!
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