“The Lung Disease”
Cystic Fibrosis

Brie Sick in the Hospital
Brie Sick in the Hospital

Megan Fontes
May 20, 2010

Abstract: Cystic fibrosis is an inherited disease that causes extremely thick and sticky mucus to build up and clog passages in the lungs and digestive tract. It is one of the most common chronic lung diseases in children and young adults, and may result in early death. The symptoms and severity of CF vary from person to person and also vary over time, however; as the disease gets worse, you will have more severe symptoms more often. Lung function often starts to decline in early childhood in people who have CF. Over time, there will be permanent damage to the lungs. Nonetheless, as treatments for CF continue to improve, so does life expectancy for those who have the disease. Statistics now show that nearly 40% of the people living with CF in the United States are 18 years or older.

Introduction: I decided to research on cystic fibrosis because my friend Briauna suffers from this disease and I have lived with her for two years now. I have been there to support and help her by doing her chest physical therapy where I clap on her back and sides to thin out the mucus and staying up late with her, while she does her inhalers and vest. She is a very strong, young woman and lives her life to the fullest. Surprisingly, even after living and listening to Brie talk about her disease, I have learned even more about CF by doing this research. One child of every 3,500 is born with cystic fibrosis and approximately 30,000 people in the United States have been diagnosed with CF. Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator). A person with CF produces abnormal CFTR protein causing the formation of thick, sticky mucus, instead of thin and watery.


What is Cystic Fibrosis?

Cystic fibrosis, CF, is an
inherited disease that causes the body to produce extremely thick and sticky mucus. The mucus in people with this disease is thicker than normal because CF affects the cells that line the passages in the body's organs. In a healthy person who does not have this disease, the cells produce thin, watery mucus that acts like a lubricant and helps protect the body's tissues easily. In a person with CF, however, the thicker mucus clogs passages the lungs and pancreas causing infections. The thick mucus causes breathing and digestive problems in these organs due to the difficulty of the mucus moving out of the lungs and the bacteria Burkholderia pseudomallei metabolizing build up of respiratory secretions. This mucus is also found in the pancreas where proteins produce enzymes that support the body's digestion process and when blocked, people with CF have trouble digesting food and getting the vitamins and nutrients they need from it.

What causes Cystic Fibrosis?
Cystic fibrosis is caused by mutations in a gene on chromosome 7 that children inherit from their parents. Most people who are born with cystic fibrosis have two copies of the CF gene, one received from each parent. This means that the parents are usually both CF carriers meaning they have one normal gene and one defective gene, but their normal gene ends up “taking over” and produces the right protein. Each child born to parents who are both CF carriers has a 1 in 4 chance of having the disease and approximately 1 in every 20 people living in this country, is a CF carrier. Shockingly, most of them do not even know it.

What are the symptoms of Cystic Fibrosis?
Doctors diagnose most kids with CF by the time they are 3 years old, but some may not be diagnosed until they reach their teenage years. Symptoms include frequent lung infections, persistent wheezing and coughing with thick mucus, bulky, light-colored, foul-smelling bowel movements or diarrhea (because food isn't being digested properly), failure to gain weight, even though the child eats normal amounts, very salty sweat, poor height growth, nasal polyps (small growths of tissue inside the nose), frequent sinus infections and the ends of their toes and fingers may become rounded and enlarged, a condition that's called clubbing. Adults with CF may also develop other illnesses, such as diabetes, a disease in which a person's blood sugar is too high, or osteoporosis, a weakening of the bones.

Is there any treatment for Cystic Fibrosis?
Unfortunately, there is no cure for CF and even if symptoms are mild at first, they will definitely get increasingly worse as the days go
There are several things CF victims can do to slow the progression of the disease and fight its complications as long as they work to prevent and control lung infections, loosen and remove the thick mucus from their lungs, treat blockages in their intestines, and provide enough nutrition. They do this by using nebulizers that bring medication to the lungs to loosen the mucus, get at least thirty minutes a day of cardio to help stay in shape, cough up and spit out the mucus to help clear the lungs, take ant
ibiotics to prevent or fight lung infections as often as needed, have somebody do their chest physical therapy at least once a day and wear their vest that shakes their chest to loosen the mucus at least three times a day. They also take enzymes by mouth to help digest food and get the much needed nutrients, as well as take vitamin supplements and eat a high-calorie diet to keep their weight up.

What is the life expectancy and the future of people living with Cystic Fibrosis?
Surprisingly, there is hope for those living with CF. The median life expectancy of a newborn with cystic fibrosis has increased from four years to 32 years and ten years back, the life expectancy of a person with cystic fibrosis was around 18 years, but today it is 35 years. Over 90% of the affected infants now survive beyond one year and studies show that life expectancy of children will exceed 40 years. Thankfully, researchers identified the gene that causes CF which they have tried to replace with normal ones. They are even working on finding the right method of delivering that normal gene into the cells of a person with CF. Other scientists are trying to find new ways of fighting lung infections and finding more lung transplants, which have extended the lives of people with CF.

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