What is Cystic Fibrosis?

According to the Cystic Fibrosis Foundation, cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system of about 30,000 children and adults in the United States (70,000 worldwide). A defective gene and its protein product cause the body to produce unusually thick, sticky mucus that clogs the lungs and leads to life-threatening lung infections and obstructs the pancreas and stops natural enzymes from helping the body break down and absorb food.

In the 1950s, few children with cystic fibrosis lived to attend elementary school. Today, advances in research and medical treatments have further enhanced and extended life for children and adults with CF. Many people with the disease can now expect to live into their 30s, 40s and beyond.

People with CF can have a variety of symptoms, including:

very salty-tasting skin;
persistent coughing, at times with phlegm;
frequent lung infections;
wheezing or shortness of breath;
poor growth/weight gain in spite of a good appetite; and
frequent greasy, bulky stools or difficulty in bowel movements.

Those with CF are now able to identify which gene mutations they inherited. Ellis has the most common CF gene, deltaF508, and a less common gene found in only 4% of CF people, G551D. These gene mutations are ranked on a scale from 1-5, 1 being the most severe and 5 being the least. The deltaF508 is a level 2 mutation and G551D is a level 3 mutation.

Ellis takes enzymes every time she eats to help her absorb nutrients, since her pancreas is insufficient. We also give her 1/4 tsp. of salt each day since her body releases more salt than it should. Ellis also gets a multivitamin supplement each day. To prevent the build-up of mucus in her lungs, Ellis gets her chest percussions done twice a day for about 20 minutes each time to "pound" her lungs clear. The mucus can hold on to infectious bacterias, so it is important to do a lot of hand washing to stop the spread of germs and ensure that Ellis does not get sick. When those with CF do get sick, they stay sick for a longer period. If certain bacterias are detected in the lungs, it can lead to the need for hospitalization and intense treatments to take care of the problem.

So, these are the basics of CF. Each case is different, but I thought I would share a little bit about what our day to day dealings are with this illness and how we are proactive in preventing the progress of CF. Feel free to ask any questions, and I will do my best to answer them.