September 27, 2007
One out of every 3500 newborns will be diagnosed with CF or cystic fibrosis at some point in their life. Affecting primarily the respiratory and GI tracts, it's a disease usually identified in young infants and children. But many times a patient can reach adulthood before ever getting the diagnosis. Dr. Mom brings us the story of one family this happened to.
What is Cystic Fibrosis (CF)?
What are the symptoms of CF?
CF is an inherited disease that can affect most every system in the body, especially the lungs and digestive system. Approximately 1,000 new cases of CF are diagnosed each year. In the early 1950's very few children lived to school age. However, with early diagnosis and advances in treatment, the median age of survival is now 37 years of age.
Other symptoms may also include:
- Very salty tasting skin
- Persistent cough, at times with phlegm
- Frequent chest and sinus infections with recurring pneumonia or bronchitis
- Wheezing or shortness of breath
- Poor growth, poor weight gain
- Frequent greasy, malodorous, bulky stools
- Blockage in the bowels
- Enlargement or rounding (clubbing) of the fingertips and toes. Although clubbing eventually occurs in most people with cystic fibrosis, it also occurs in some people born with heart disease and other types of lung problems.
- Protrusion of part of the rectum through the anus (rectal prolapse). This is often caused by stools that are difficult to pass or by frequent coughing.
Testing for CF
- Growths (polyps) in the nasal passages
- Cirrhosis of the liver due to inflammation or obstruction of the bile ducts
- Displacement of one part of the intestine into another part of the intestine (intussusception) in children older than age 4
- Aspermia or the lack of sperm in males
- Genetic carrier testing - This test can help detect carriers of the defect CF gene. To have CF, a child must inherit one copy of the defective gene from each parent.
- Sweat Test - this is a simple, painless test that measures the concentration of salt in a personâ€™s sweat.
- Newborn screening - many states require newborns to be screened for CF. However, Texas does not require newborn screening for CF. Early screening and diagnosis results in earlier treatment of problems.
Ways you can help
For more information:
Join the annual Great Strides Taking Steps to Cure Cystic Fibrosis Walk. Log on to www.cff.org to find a Great Strides walk near you. 90% of every $1 raised is used to support research, care, and education programs.