Cystic Fibrosis

What is Cystic Fibrosis?

Cystic Fibrosis, or CF as it is commonly called, is a disease caused by an inherited genetic defect. As such it is not contagious and there is no risk of "catching" CF from another person with CF. About 1 in 23 people in the United States carry at least one defective gene, which makes it the most common genetic defect of its severity in the United States.

For many years the causes of Cystic Fibrosis were a mystery. Today, recent advances in biology have made the cause more clear. Humans have a gene encoded in their DNA which manufactures a special protein called CFTR. This protein controls the flow of chloride ions across the cell membrane. Each gene is made up of two alleles; a single correctly encoded allele is adequate for normal CFTR production. Thus it is only when a person has two defective CFTR alleles that they actually have Cystic Fibrosis. Those with a single defective allele are called carriers, and those with two defective alleles have Cystic Fibrosis.

People with Cystic Fibrosis suffer from chronic lung problems and digestive disorders. The lungs of people with Cystic Fibrosis become covered with a sticky mucus which is hard to remove and promotes infection by bacteria. Many people with CF require frequent hospitalizations and continuous use of antibiotics, enzyme supplements, and other medications. The life expectancy of people with Cystic Fibrosis used to be very short; 30 years ago the median life expectancy was about 8 years. Today, thanks to medical advances, the median life expectancy is just under 30 years and increasing.

CF used to be known as a children's disease, and to some major fund raising organizations maybe it still is. But as medical advances increase the life expectancy of people with Cystic Fibrosis, they face a new set of problems--going to college, getting a job, finding health insurance, building permanent relationships--all while keeping up the physical therapy and medications. The primary goal of this list is to help people with those new set of problems.

There are approximately 40,000 people in the United States with Cystic Fibrosis

Cystic fibrosis is the most frequent lethal genetic disease of childhood. Formerly known as cystic fibrosis of the pancreas, this entity has increasingly been labeled simply "cystic fibrosis" (or "mucoviscidosis" in Europe). Manifestations relate not only to the disruption of exocrine function of the pancreas but also to intestinal glands (meconium ileus), biliary tree (biliary cirrhosis), bronchial glands (chronic bronchopulmonary infection with emphysema), and sweat glands (high sweat electrolyte with depletion in a hot environment). First, CF was considered a childhood disease. The median survival age was 8 years. Today, it is 30 years. (The term "median" means that there is half of the population above that number and half below.)

At first the disease was treated phenomenologically, without understanding of the underlying causes. Recent advances have made the mechanisms responsible for CF much clearer; the lack of CFTR (a protein) causes improper regulation of the chloride channel; chloride (Cl) is prevented from leaving the cell. This affects a wide range of organs in the body, including:

Diagnostic Tools:

Manifestations:

All of these result in reduced life expectancy.

Some Other Facts:

Testing for Carriers

There is also a test to determine if you are a carrier for several of the most common mutations that cause CF. There are something like four hundred mutations identified so far, though, so the test can tell you are a carrier, but if it comes back negative, you just know it's unlikely.

Here are the probabilities of producing a child with CF:

If both parents have CF

100% chance that the child will have CF

If one parent has CF and the other is not a carrier

0% chance that the child will have CF (barring the very unlikely event of spontaneous mutation)

100% chance that the child will be a carrier

If one parent has CF and the other is a carrier

50% chance that the child will have CF

50% chance that the child will be a carrier

If both parents are carriers

25% chance that child will have CF

50% chance that child will be a carrier

25% chance that child will neither have CF nor be a carrier

Note 1

The chance of any one child having CF or being a carrier is as shown above; the presence or absence of previous or subsequent children from one or both parents has no effect whatsoever on these chances.

Note 2

No carrier has CF.

Note 3

These chances of having CF or being a carrier have nothing to do with the severity of the symptoms suffered by someone with CF.

Getting Ready for a Stay in the Hospital

Many kids with CF may have to go into the hospital once or twice a year for a "tune up." This is very much like taking a car to a garage to make sure everything is working right. When you go to the hospital for your CF tune up, make sure you take your favorite toys and games with you. The hospital is a friendly place where all the doctors and nurses will work with you to make you feel better.

One part of a hospital stay is intravenous (IV) antibiotics. Some kids are scared of this, but you don't have to be. The IV needle does hurt a little bit, but remember that the medicine will make you feel much better. While you're in the hospital, see if you can make new friends. Ask the nurses if the hospital has fun stickers, games you can play, or videos you can watch. Your family and friends will come visit you while you're there. When you get home, you'll feel better than ever and be ready to play with all your friends again, just like before. Your teachers may send homework assignments so that you can keep up with your classmates