What Is Cystic Fibrosis?
Cystic fibrosis (CF) is an inherited chronic disease that affects the lungs and digestive systems of
about 30,000 children and adults in the United States (70,000 worldwide). A defective gene causes the body to produce unusually
thick, sticky mucus that:
- clogs the lungs and leads to life-threatening lung infections; and
- obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.
In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in
research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with
the disease can now expect to live into their 30s, 40s and beyond.
Symptoms of Cystic Fibrosis
People with CF can have a variety of symptoms, including:
- very salty-tasting skin;
- persistent coughing, at times with phlegm;
- frequent lung infections;
- wheezing or shortness of breath;
- poor growth/weight gain in spite of a good appetite; and
- greasy, bulky stools.
Statistics
- About 1,000 new cases of cystic fibrosis are diagnosed each year.
- More than 80% of patients are diagnosed by the age of three.
- At least 40% of the CF patient population is age 18 or older.
- In 2005, the median age of survival was nearly 37 years.
How can you know for sure if you or your child has cystic fibrosis (CF)? If someone in your family has the disease, could
you pass it down to your children?
There are several ways to help answer these important questions.
Genetic Carrier Testing — More than 10 million Americans are symptomless carriers of the defective
CF gene. This test can help detect carriers, who could pass CF onto their children. To have cystic fibrosis, a child
must inherit one copy of the defective CF gene from each parent.
Each time two carriers of the CF gene have a child, the chances are:
-
25% the child will have CF;
-
50% the child will carry the CF gene; and
-
25% the child will not carry the gene.
I was tested during my pregnancy and it was discovered that I carried the Delta 508 with a 5t allele which is the most
common cf gene. So, I got this from either my mom or dad's side. The amazing part is that nobody on either side
that we know of has ever been diagnosed with cystic fibrosis. Although there were a few cases of infant death due to
"pneumonia" among my paternal grandfather's siblings, but CF wasn't discovered then...interesting.
Rich carries the 621 gene which is not so common and again there is no history of CF in his family that we are aware of
either.
Ryan and Kayla both have the delta 508 & 621 which gives them cystic fibrosis. Ashley carries Rich's 621, she
does not have CF but is a carrier.
To learn more about Cystic Fibrosis visit their website by clicking the link below.
