What is Cystic Fibrosis?
Cystic Fibrosis Gene
The protein produced by this gene normally helps salt move in and out of cells. If it doesn't work properly the movement is blocked and an abnormally thick sticky mucus is produced on the outside of the cells.
A persistent cough that produces thick (sputum) mucus
Repeated lung infections
- Inflamed nasal passages or a stuffy nose
Foul-smelling, greasy stools
Poor weight gain and growth
Intestinal blockage, particularly in newborns (meconium ileus)
Bowel problems, such as gallstones, intestinal blockage, and rectal prolapse
Coughing up blood
Chronic respiratory failure
Liver disease or liver failure
Nasal polyps and sinusitis
Osteoporosis and arthritis
Pneumonia that keeps coming back
- Rights-sided heart failure
Carrier testing is available through a simple blood test. There are around 1,000 mutations that have been found to cause CF. A screening can be done for the most common of the 1,000 mutations. If there is no history of anyone having CF in the family then the chance of being a carrier depends on your ancestry.
European Caucasians, Ashkenazi Jews - 1 in 29
Hispanic Americans - 1 in 46
African Americans - 1 in 61
Asian Americans - 1 in 90
If there is a history of CF in the family, the risk of having it may be higher regardless of the ancestry.
If the test comes back positive there is no impact it has on your health. The only possibility is that their child may have CF. If both of them are carriers each pregnancy will have a 1 in 4 chance of being affected with cystic fibrosis. Before the newborn leaves the hospital a blood sample is taken and tested for several different conditions, including Cystic Fibrosis
Treatment and Outlook
- About 2,500 babies are born with cystic fibrosis in the U.S. each year.
- More than 10 million Americans carry the cystic fibrosis gene but don't know it.
- Cystic Fibrosis and Tay Sachs are tied as the most fatal Jewish genetic diseases.
- People with Cystic Fibrosis can't be close together because they harbor a dangerous bacteria that can harm people with CF or compromised immune systems.
- People with Cystic Fibrosis excrete too much salt causing their skin to be salty.
- Roses became the unofficial symbol because 'Cystic Fibrosis' rhymed with 65 roses.
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