Most people have heard of Cystic Fibrosis (CF), but unless a friend or loved one suffers from this genetic disease, you may not be aware of its devastating effects. Because of the defective CF gene, the body produces thick mucous, causing the lungs, pancreas, and other organs to not work properly.
In the lungs, mucous builds up in the airways, leading to a chronic cough, breathing difficulties, frequent lung infections, and the eventual destruction of the lung. In the pancreas, the thick mucous blocks the organ from releasing the enzymes necessary to break down fatty foods. As a result, people with CF have difficulty absorbing the nutrients necessary for them to grow.
In the United States, there are approximately 30,000 people living with CF. There are approximately 1,000 new cases diagnosed each year. The most common symptoms include:
Frequent lung infections
Foul-smelling, greasy stools
Difficulty growing and gaining weight, despite a healthy appetite
Salty tasting skin
CF is an autosomal recessive genetic disease, meaning it takes two copies of the defective gene from the parents for the child to have the disease. Both the mother and father must be CF carriers in order to have a baby with CF. Most babies are screened at birth for CF through the newborn screening program. Some babies will be diagnosed at that time, while others go on to develop frequent lung infections, failure to thrive, or other classic presentations. Most children are diagnosed by the age of 2.
If a child is suspected of having CF, he or she will likely be sent to a Cystic Fibrosis Foundation accredited center. A sweat test will be performed, where sweat is collected and sent to the laboratory for confirmation. Also genetic testing will be conducted, looking for a defective gene.
Children with CF can go on to live happy, fulfilling lives if they take care of themselves with proper nutrition and medication. Many people with CF live into their 40s and even beyond. In fact, over half of the CF population is over the age of 18 because of continued advances in medical care.
Cystic Fibrosis Foundation.
Centers for Disease Control and Prevention
- Newborn Screening for Cystic Fibrosis.
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