Living With Cystic Fibrosis “CF”

Seventy thousand children and adults worldwide are affected by Cystic Fibrosis (CF). Thirty thousand of that seventy thousand that are affected are in the United States. “CF is a chronic, progressive, and

frequently fatal genetic disease of the body’s mucus gland,” (Parker and Parker 11). CF affects the digestive and respiratory systems of children and young adults.

According to studies done by the Cystic Fibrosis Foundation (CFF), there are about thirty thousand Americans, three thousand Canadians, and twenty thousand Europeans with CF. CF is most common in whites whose ancestors came from northern Europe. Although it affects all races and ethnic groups it is a lot less common among African Americans, Native Americans, and Asian Americans. Every year about two thousand five hundred babies are born with CF in the United States.

Cystic Fibrosis is a genetic disease. CF is a genetic disease because some individual’s basic building blocks of a gene are altered. This alteration is called a mutation which can cause the body to make defective protein or no protein at all. Children inherit this altered gene from one or both of their parents. For CF to be evident the child must have inherited two abnormal genes, one from each parent. About one in every twenty Americans is an unaffected carrier of an abnormal “CF gene.” That is about twelve million people who are usually unaware that they are carriers. “The recessive CF gene can occur in both boys and girls because it is located on non-sex-linked chromosomes called autonomic chromosomes. CF is therefore called an autonomic recessive genetic disease,” (Parker and Parker 14).

The CF gene was first identified in 1989. In the past seventeen years a lot has been learned about this gene and its protein product. “The biochemical abnormality in CF results from a mutation in a gene that produces a protein responsible for the movement through the cell membranes of chloride ions. The protein is called cystic fibrosis transmembrane regulator (CFTR),” (Parker and Parker 16). When this protein is abnormal, “two of the hallmarks of CF result blockage of the movement of chloride ions and water in the lung and other cells and secretion of abnormal mucus,” (Parker and Parker 16). This makes it difficult for the body to keep organs and lungs clean and healthy because the mucus becomes thick and dry. The mutation that is involved with CF causes the deletion of three of the base pairs in the gene. This in turn, causes a decline in the CFTR protein of amino acid.

Because phenylalanine is located in the position 508 of the protein chain, this mutant protein is called deltaF508 CFTR. However, deltaF508 CFTR accounts for only seventy to eighty percent of all CF cases. Various other mutations, over four hundred at the last count seem to be responsible for the remaining CF cases (Parker and Parker 17).

Differences in the disease patterns seen in individuals and families probably result from the combined effects of the particular mutation and various, but yet still unknown, factors in the CF patient and his or her environment.

There are many different symptoms of CF ranging from a blocked small intestine at birth to rectal pro-lapse which is where part of the rectum protrudes from the anus. One of the most obvious symptoms is salty sweat or skin. One of the most common ways to test for CF is a test called a sweat test. This test measures the amount of salt in a persons sweat. Though this test is most common it is not accurate with newborns because they do not produce enough sweat. Other obvious symptoms include a cough that does not go away, breathing problems, easily worn out from exercise or even regular activities, coughing up mucus that may contain blood or not wanting to eat causing weight loss.

Colleen Cronin states in her research found on WebMD. COM, “On average people who live with cystic fibrosis will live into their mid thirties.” Depending on the stage of the disease depends on the actual life expectancy. The advancements in treatments are making it possible for patients to live into their forties and longer. Patients may live a normal life expectancy if they have mild CF.

There are three main groups of different types of treatments; there is respiratory therapy which as Cronin states is a therapy that “slows down lung damage and improves breathing. The focus of this therapy is on reducing infection and getting rid of mucus to keep the lungs healthy.” Cronin also refers to a digestive therapy which “works to replace certain digestive enzymes, which make sure the body absorbs all the vitamins and minerals it needs, and prevents or treats intestinal blockages.” The third main group of treatment is antibiotics. There are two different types of antibiotics that Cronin talks about in her research; the first group “may be prescribed to help prevent infections while others may be prescribed to help fight infections.” Other ongoing treatments may include regular visits with the team of doctors involved with the patient’s case or a combination of treatments from the three main groups. If conditions get worse the doctor may order a chest x-ray, or a ct scan. If the patient experiences complications then the doctor may decide surgery is the best way to go. If surgery is needed the doctor may decide on a chest tube to drain the lungs or the doctor may decide that lung transplantation is the best option. Some patients and their families may find it easier to attend support groups or counseling to help them get through their treatments.

Two major foundations that support CF are Cystic Fibrosis Foundation (CFF) and Lungs for Life Foundation (LFL). LFL was established in 2000 in memory of Edward W. Wlodarski, who died in 1998. This foundation was established so they could provide short term financial assistance to help CF patients and families with emergencies, treatment assistance and special needs assistance. Their goal is to educate the public about CF and to raise funds for programs.

CFF was founded in 1955. They are a non-profit donor supported organization. They are the leading organization in the United States. They currently have more then eighty chapters and offices nationwide and they support a network of more than one hundred fifteen accredited CF care centers. CFF hosts more than one thousand two hundred fund-raising events a year ranging from dinner dances to golf tournaments. The CFF is currently actively supporting at least twenty-five potential new treatments currently in development.

One of CFF’s big donations every year is from what is considers CFF’s largest grass roots fund raiser, which is held in Bristol, Vermont. Between 1989 and 2005 they had donated more than five hundred ninety-eight thousand dollars. The organizers of this fund-raiser started this “three day stampede” in 1989 when their grand-daughter was born with CF the exact same day that the isolation of the defective gene was announced.

The stampede is an amazing thing to be apart of. For three years now I have helped out in anyway possible. It is a three day event; there is a craft market, a lawn sale, a silent auction, a bake sale, dinner and dance, bingo, and a walk and roll a thon. Every year the biggest local country radio station does their Sunday morning flee market on site and donates their air time and money. At the stampede you can also see many of the children and teens who have CF from a five town area that go to the high school in Bristol. It is amazing to see what a community can to do to make a difference when there is some one they love affected by the disease.

Cystic Fibrosis is not a disease we realize is so wide spread because the signs are not always obvious to the human eye. Just because it is not obvious to the human eye does not mean that it is any less serious. CF can be fatal and it cuts a persons life span down dramatically. Just think that there are about twenty thousand Americans who are carriers and do not even know it. Cystic Fibrosis is more serious than we know it.

Works Cited
About LFL. Stephanie White. 2007 .

About Us. Ed. Bonita Bedard. .

Parker, James N. and Philip M. Parker. The 2002 Official Parents’ Sourcebook on CF. San Diego: Icon Group International, 2002