Advancements help cystic fibrosis sufferers

When I was growing up in the 1970s, a boy I knew had cystic fibrosis. He had frequent infections, often took medications, and nobody expected him to grow up to be an adult. Fortunately, as medical knowledge advanced, it kept up with my friend. He survived into adulthood, got married and graduated from college.

Although there is not yet a cure for CF, treatments have improved substantially in the past few decades. As recently as the 1950s, children with CF rarely lived long enough to get to elementary school. Now, many people live into their 40s, and some even past that.

CF is one of the genetic medical conditions I mentioned in a previous column about genetic testing. People with a family history of CF who are considering pregnancy or women who are pregnant can have a blood test to see if they are carriers. A carrier does not have the disease, but has a single defective CF gene that they could pass to their children. Both parents have to be carriers for there to be a chance that a child will have CF. If both prospective parents are carriers, there is a 25 percent chance that a child will have CF, a 50 percent chance that the child will be a carrier and a 25 percent chance that the child will neither be a carrier nor have CF.

CF causes an important protein to be made improperly so that it does not move salt in and out of your cells the way it does when it is made correctly. This causes the mucus normally found in your lungs and digestive system to be especially thick and sticky instead of thin and slippery. This thick mucus clogs lungs and makes you susceptible to lung infections and keeps the enzymes produced by the pancreas from getting into your digestive tract to break down food. CF can also interfere with fertility and other functions of the body.

Symptoms of CF can include salty tasting skin; persistent (often productive) cough; frequent lung infections; wheezing; shortness of breath; poor growth; slow weight gain; frequent greasy, bulky stools; and difficulty with bowel movements.

There are about 1,000 new cases of CF in the United States each year. A person with CF is usually diagnosed by age 2 because of repeated infections or other persistent problems.

People with CF need to stick to the treatment routine devised for them to keep lungs healthy and to get enough nutrients from food. Common daily treatments include airway clearance, inhaled medicines and enzyme supplements. Updated immunizations, including the flu vaccine, help to reduce infections. CF patients usually see a specialist regularly for management of the disease.

A new medication, ivacaftor, was approved for use in the United States in 2012 for some cases of CF. There are many different mutations that can cause the CF gene to be defective and the new drug can be used in people older than 6 who have at least one of 10 rare CF mutations. The new medication helps the defective protein function properly so that salt and fluids on the surface of the lungs flow properly, helping to thin mucus.

With current improved treatments and many new medications in the development pipelines of many companies, the outlook for people with CF is getting brighter all the time. I was especially glad that treatment improvements kept up with my friend.