Cystic Fibrosis

By Alex Daniels

When my Uncle got married a few years ago I didn't know much about his new wife. I knew that she was nice and had a wonderful personality, but I also knew she had a disease called Cystic Fibrosis. At the time I didn't know anything about the disease or what she and my Uncle did everyday to deal with it. As I began to get to know her better I learned that Cystic Fibrosis was a very serious genetic disease that affects your ability to breathe. Their family had a history of the disease and at the wedding reception I even met one of her young Nephews who also had Cystic Fibrosis or "65 Roses" as it is called by many young children. At the time I had no idea that Cystic Fibrosis was as serious as it is and that both my Aunt and her Nephew will eventually die from complications caused by the disease even though they can seem to be growing stronger at some points. When I looked at her Nephew I thought that there was no way that he and my new Aunt had the same disease because they were both so very different in the way they acted. This is how I became interested in learning more about Cystic Fibrosis and how it affects those who have it and decided to find out more about what they face. I became inspired by their lives and how they deal with their daily challenges in an upbeat and positive way even when it can be a very frustrating disease.

What is Cystic Fibrosis?

My Aunt has Cystic Fibrosis (CF) which is a genetic disease that affects the lungs and digestive system. People with CF cough very frequently because they have a lot of phlegm in their lungs. This happens because there is a mutated gene and the protein it produces causes the person to produce a sticky mucus that clogs their lungs and leads to lung infections like pneumonia and bronchitis. This also obstructs the Pancreas and stops enzymes from helping the body break up and absorb food. The mucus in the lungs causes a shortness and loss of breath. Some people with CF have trouble going to the bathroom. Many people do not grow very much so they can appear very small and sickly. People also get small fleshy growths inside their nose called nasal polyps.

external image cystic-fibrosis.gifexternal image cysticfibrosis01.jpg

How do you get Cystic Fibrosis?

CF is an inherited chronic disease. In order to get CF both of your parents must be carriers of the disease. If both of your parents are carriers then you would have a one in four shot of getting CF. Each parent would carry one normal allele as one as one CF allele. The alleles come together so that you could have a child without CF ast all who is not a carrier. Two different carrier children, one with a normal allele from dad and a CF allele from mom and one with a CF allele from dad and a normal allele from mom. You could also have a child who recieves the CF allele from both parents that will have CF. It is very unlikely that your parents would have CF themselves because it is difficult for many people with CF to have children. Around 30,000 people in the United States have CF according to the Cystic Fibrosis Foundation. Additionally around 10 million more people or one in every 31 people in the United States are carriers of the CF gene. Though CF affects all races it is most prominent in Caucasians.


How is Cystic Fibrosis Diagnosed?

People with CF don't really look any different from anyone else so you wouldn't be able to tell if someone had the disease. The most common difference in appearance between someone with CF and a normal healthy person is that the person with CF would look very thin or even sickly. Most parents realize that their children have the disease before they are two years of age because they aren't growing like their peers. People who have CF typically have very salty sweat. Because of this the most common test for CF is to place an electrode on the skin to make the person sweat so that the doctors can measure the level of chloride in the sweat to determine whether or not they have CF.

What treatments are available for Cystic Fibrosis?

Right now CF is still an incurable disease though medical advancements have come a long way in making the lives of CF patients more comfortable. Many patients take pancreatic enzyme supplements with major meals and most snacks along with multi-vitamins daily. Some people are hooked up to oxygen part or all of the time or have some of the mucus broken up by breathing through a nebulizer. Most people with CF do airway clearances daily which help to break up the mucus in their lungs. An airway clearance can be as simple as forcing yourself to cough or doing certain stretches that loosen up your chest. There are some medications that make the mucus thinner so that it is easier for the patients to cough up. Antibiotics are used to kill bacteria that may build up inside the lungs and form mucus, and antinflammatories are used to keep the lungs from swelling. Some people use what is called a bronchodilator to open up their lungs or get a operation called a bronchoscapy to clean the mucus out of their lungs. Since there is so much mucus and bacteria targeting the lungs many people who have CF will end up having to have one or more lung transplants during their lifetime.

What do people have to do daily with Cystic Fibrosis?

Depending on the severity of the case people with CF live in very different ways. People without very severe cases can live without much daily disruption but the disease does become progressive with age. As you age it gets progressively more difficult to breathe with CF so you are very limited in the activities that you are able to perform. Many people with CF cannot play sports or be outside for long periods of time because it is hard to breathe and doing everyday tasks is often very hard for them. It is typical for people with CF to get Diabetes because of their difficulty with breaking down sugars. In addition to the daily hassles of airway clearances and sometimes having to depend on oxygen people with CF most of the time need a lung transplant to continue being able to breathe. Many end up rejecting their first lung transplant after a few years and need to recieve another set of new lungs which can be very difficult and expensive to do. Though all of these medical procedures do help the patients of CF the median age is still 37 which puts my Aunt as one of the oldest living people with CF which can be very scary and stressful at times.

How does Cystic Fibrosis affect the Family?

Having CF can be very limiting and stressful for the patient and family because the person cannot do what everyone else can do because it may be too strenuous or hot making it hard for the person to breathe. It can be very hard to plan vacations with people who have CF because they cannot be out in the sun for extended periods of time and need lots of rest. So normal activities like a day at the beach would not be possible for someone with CF for long and sometimes even long car trips can be difficult. While they may be able to do some things for just a short amount of time they would probably need to use oxygen afterwards which makes it not really worth the hassle. People with CF also get sick very easily, for instance exposure to small children or someone with even a sickness such a cold could make someone with CF very sick for a long time.

Inspiring Stories-

Sometimes people with Cystic Fibrosis can overcome the disease enough to compete in sports especially when they are young. One child, Erik Nieman from Arkansas began competing in swimming when he was seven. When he was diagnosed at ten months his doctor recommended that he swim to help with his lung capacity because you need to be able to breathe deeply to swim. In 2008 he competed in the Central Zones Competition in his specialty event the 50 meter backstroke. It is very difficult to qualify for Zones and being able to do so has been compared to being able to run a five minute mile. So it is very impressive that any nine year old would be able to that, let alone one with a disease that affects the lungs. Erik says "I want to show other people with diseases that you can still have hopes and achieve your dreams, even if you have difficulties you fight with every day." You can read the rest of Erik's storyfrom the Cystic Fibrosis Foundation.