Published: May 08, 2008 12:24 pm            

What is cystic fibrosis?

I hear it often, “Cystic fibrosis, what’s that”? One needs to know since all newborn babies in Oklahoma are tested for it at birth. I’m not a doctor, but I am knowledgeable about cystic fibrosis.

My first son died from it at six months, and my second son has it but not as bad. He is now 22 years old. My third and fourth sons do not have it, but they could very well be carriers such as I am. A carrier you ask, “What’s that”? Read on.

Cystic fibrosis (CF) is more common than you think. In Ada alone, there are several people that have CF; some have already gone home to be with the Father.

CF is an inherited disease of your mucus and sweat glands.

It affects mostly your lungs, pancreas, liver, intestines, sinuses, and sex organs. Normally, mucus is watery. It keeps the linings of certain organs moist and prevents them from drying out or getting infected.

But in CF, an abnormal gene causes mucus to become thick and sticky. The mucus builds up in your lungs and blocks the airways.

This makes it easy for bacteria to grow and leads to repeated serious lung infections. Over time, these infections can cause serious damage to your lungs.

The thick, sticky mucus can also block tubes, or ducts, in your pancreas. As a result, digestive enzymes that are produced by your pancreas cannot reach your small intestine.

These enzymes help break down the food you eat. Without them, your intestines cannot absorb fats and proteins fully.

As a result nutrients leave your body unused, and you can become malnourished.

Your stools become bulky. You may not get enough vitamins A, D, E, and K. And you may have intestinal gas, a swollen stomach, and pain or discomfort.

The abnormal gene also causes your sweat to become extremely salty. As a result, when you perspire, your body loses large amounts of salt.

This can upset the balance of minerals in your blood. The imbalance may cause you to have a heat emergency. CF can also cause infertility (mostly in men).

Symptoms and severity of CF vary from person to person. Some people with CF have serious lung and digestive problems.

Others have more mild disease that doesn’t show up until they are adolescents or young adults.

Respiratory failure is the most common cause of death in people with CF.

Until the 1980s, most deaths from CF occurred in children and teenagers. Today, with improved treatments, people with CF live, on average, to be more than 35 years old. Research continues to look for better treatments and a cure.

About 30,000 people in the United States have cystic fibrosis (CF). It affects both males and females from all racial and ethnic groups but is most common among Caucasians whose ancestors came from northern Europe.

CF is one of the most common inherited diseases among Caucasians. About 1 in every 3,000 babies born in the United States has CF.

CF is also common in Latinos, Native Americans, especially the Pueblo and Zuni.

It is much less common among African Americans and Asian Americans. About 12 million Americans are carriers of an abnormal CF gene. Many of them do not know that they are CF carriers.

You may want to check whether you are a CF carrier, if you have a family history of CF, are a partner of someone with CF, or are a couple planning a pregnancy.

A genetics counselor at your local hospital can take a blood or saliva sample to see if it contains the abnormal CFTR gene that causes CF. It will detect 9 out of 10 cases of CF.

CF carriers usually have no symptoms of CF, live normal lives and can pass the abnormal CFTR gene on to their children.

When two CF carriers have a baby, the baby has a one in four chance of inheriting two abnormal CFTR genes and having CF; a one in four chance of inheriting two normal CFTR genes and not having CF or being a carrier; two in four chances of inheriting one normal CFTR gene and one abnormal CFTR gene.

The baby will not have CF but will be a CF carrier like its parents.

        

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