What is Cystic Fibrosis? Cystic fibrosis is an innate, genetic disease that primarily targets the respiratory and digestive tracts. A genetic mutation alters the protein that regulates the movement of NaCl in and out of a cell. This results in a thicky, sticky mucus that builds up in the lungs and pancreas.
Cystic fibrosis (CF) is a recessive genetic disease. In order to have CF, both parents must be a carrier of the gene. The CF gene must be passed on by both parents in order to have CF. Although a person may be a CF carrier, they will not have any symptoms nor be affected by the gene.
Symptoms of CF Physically, it is impossible to distinguish between a normal person and a person with CF. Although internally, their lungs and pancreas take a great toll on their health. The Symptoms: Salty skin Persistent cough Wheeze often Shortness of breath Weight loss/lack of proper growth Greasy stools
Diagnosis of Cystic Fibrosis The sweat chloride test (sweat test) is the most common and effective test used to diagnosis cystic fibrosis.
Newborn screening for CF is now performed in all US states.
X rays and CT scans are used to look for inflammation in the lungs and pancreas.
Treatment There is no cure for CF but the following medications and treatments help to reduce symptoms, complications, and improve overall quality of life. Inhaled medications using a nebulizer and inhaler Antibiotics Enzymes Airway clearance therapies (ACT); the most common ACT is The Vest Airway Clearance
Living with CF In addition to daily breathing treatments, there are other ways to help reduce complications associated with CF: Exercise such as jogging, swimming, or cycling High fat, high calorie diet Stay away from smoke Practice hand washing/carry hand sanitizer Keep up to date on immunizations
Prevention There is no certain way to prevent CF. Although if CF runs in the family, it is a good idea to take a CF carrier test. This test detects whether a person carries the CF gene. Ultimately, if a couple is pregnant and one person has the CF gene, the other person should get tested. If the tests are positive, further testing can be performed to determine if the baby will have CF.
Conclusion Cystic fibrosis affects 30,000 people in the US and 70,000 people worldwide. It is important to raise awareness of this genetic disease because it is unheard of to many people. It is common that people who have heard of CF, don’t know all of the facts about the disease. In most cases, people are unaware that they carry the gene until their child is born with CF. Raising awareness will help prepare people for the possibility of having a child/relative with the disease, promote fundraisers and research, enhance the quality of life for a person living with CF, and improve chances for finding a cure.
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