Cystic Fibrosis Essay, Research Paper

CYSTIC FIBROSIS

In today?s world there are a numerous amount of diseases. Diseases that people

are ignorant to. Not by choice but due to the fact that they are not around that particular

disease. One disease that people aren?t familiar with or around is Cystic Fibrosis. A good

friend of mine has Cystic Fibrosis and that is what sparked my interest in this particular

disease. He is just like any other teenager and does the same activities as you and I. You

will learn more about why later in the essay.

Cystic Fibrosis(CF) is a disease that causes the body to mass produce a thick

mucus in the cell linings of the lungs and the pancreas. It stops enzymes from getting to

the intestines to allow the digestion of food.(Cystic Fibrosis Foundation) CF is a genetic

or inherited disease as well as fatal. CF mostly affects children and young adults. People

with CF average about a life of 30 years.(The Daily Apple) CF is not a contagious disease,

it is caused by a gene that is ?defective?. This gene is a protein that is called CFTR. This

protein controls the movement of chloride through the cell membrane. Genes have alleles,

two to be precise. When one is defective then that is considered a carrier. If two alleles are

defective then the gene has Cystic Fibrosis.( CFF)

People wonder how common CF is. In the web site The Daily Apple states that

around 30,000 people in the U.S., 3,000 Canadians, and 20,000 people in Europe have

Cystic Fibrosis. The disease appears in people who have ancestors from The northern part

of Europe and are of the Caucasian ethnicity. Every year in America 2,500 babies born

have CF and one out of twenty Americans are a carrier of the CF gene that is ineffective.

Most of these people are ignorant that they are in fact a carrier.

This disease has an assortment of symptoms. The more common symptoms would

be; salty tasting skin, coughing repeatedly, weezing or pneumonia, eating above average

but little gain of weight and trouble breathing. (CFF) When a person has CF they tend to

sweat out a lot of salt which in return disturbs the minerals in the bloodstream. This causes

the heart to have an irregular beat pattern. (The Daily Apple) CF is diagnosed by a sweat

test. A sweat test is a test that measures the amount of salt that is in the sweat. The test is

proceeded by using pilocarpine, a chemical that makes an area of skin sweat with a small

electric current. Then the sweat is collected by using a gauze pad wrapped in plastic

around the area of skin. The plastic is taken off after about 30 or 40 minutes and the sweat

that has been absorbed in the gauze pad is tested. If the results come back as a high

amount of salt, then the proposal that the person has Cystic Fibrosis is brought to

attention. (Daily Apple) Although this is the most common test for CF some people who

have this disease have a normal amount of salt levels. If this is the case then these people

would be tested by; looking for the mutated gene by chemical testing, chest x-rays, lung

function tests, and phlegm tests. (Daily Apple)

People often wonder how they are supposed to determine if their child might have

CF. The symptoms for children vary from each child. If a baby is born with the CF gene

then the symptoms should show up within one full year. Although symptoms might not

come about until the adolescence. If a baby is born with the intestinal blockage, meconium

ileus then that baby is suspect to have CF. (Daily Apple)

People who have CF have healthy and fun lives just like the rest of us. For instance

my friend who is diagnosed with CF does everything my friends and I do. Just because he

has this disease doesn?t mean he can?t live his life. He just needs to take care of himself

like others do if they have this disease. Some things that people might have to do are;

physical therapy, exercise, eat the correct foods (For example a high calorie, protein and

fat intake.), take enzymes to digest better, take antibiotics, use aerosols like a mister to

make for easy breathing, and to eat more salt to replace the loss of salt from sweating.

Other than those particular things you wouldn?t know a person with CF from a person

without it if you put them next to each other. ( The Ortho-McNeil CF Care web site)

Other medical problems can conduct from CF. Sinusitis is one problem that causes

an infection of the nasal sinuses. Nasal polyps is another problem that causes a flesh

growth inside of the nose. Clubbing which is when the fingers and toes are enlarged and

rounded. Pneumothorax is also caused by CF and it is when the lung tissue is ruptured.

This medical problem also causes air to get caught in-between the lung and chest wall.

Hemoptysis can also come about and that is when the person coughs up blood. Those are

just some effects that CF might have on someone. Liver disease, and diabetes may also

appear as well. (Daily Apple)

Cystic Fibrosis is a genetic disease and genes are the primary units of hereditary.

Genes are found on chromosomes. The job of most genes is to direct cells to produce

proteins. These proteins are very important when it come to living. Each person has 46

chromosomes. From each of the parent 23 are inherited. Each person has two sets of

genes(a set from each parent). For some people basic building block of a gene called base

pairs is mutated or changed. This mutation causes the body itself to make imperfect

protein or no protein. When this does happen the outcome is a loss of an primary function

and that will induce a disease such as CF. (Daily Apple)

Treatment for cystic Fibrosis is dependent on the stage that the disease is actually

in and also what organs are involved. There is a way to cure and/or stop the disease and

that would be gene therapy. This therapy would have to be performed at an early age.

What gene therapy would do is either repair or substitute the insufficient gene. Although

this seems like a good idea, it does not exist at this point in time unfortunately.(Daily

Apple) Of course there are other realistic treatments that help the CF patients. One way of

treatment is the chest therapy. This requires repeated pounding on the back to dislodge

mucus in the lungs. Antibiotics are able to help with the management of the lung infection.

The antibiotics are used either by taking a pill or by vapor method such as an inhaler.

These methods allow the airways that are trapped with mucus to be freed.(CFF)

The lung problems are more serious then the digestive problems. The digestive

problems are more easily handled as well. When someone?s body is affected with CF in the

digestive region, the body will not take in the nutrients that it needs. (CFF) To treat this

the person needs to have a balanced diet as well as a high calorie diet. The diet should be

low in fats and high in protein. Supplements are also used such as the vitamins, A,D,E,

and K.(Daily Apple)

There is of course the question itself of , is there any progress towards a cure?

Well in 1993 there was the first experiment for gene therapy. What scientists did was they

changed the a cold virus to deliver the genes needed in the CF cells. This method was

supported by many foundations. The newest treatments that are out in the world today are

Pulmozyne and TOBI (tobramycin solution for inhalation). Pulmozyne is a drug that will

thin the mucus buildup in the lungs. This drug cut down respiratory infections and also

improved the lung function. TOBI was developed in 1997 as a revised antibiotic. This

particular drug also improved the lungs functions. Not only did the drug do that but it

decreased the amount of hospital stays. There are certain benefits to this drug such as it

can be brought to the CF lung more directly and in more intensive doses. It is said in CFF

that this drug should lead to more aerosolized antibiotics for patients.(CFF)

CF is an emotional disease to people and is often hard to cope with. Education of

CF is a tremendous help to families as well as the patients. Educational programs

encourage people with CF to lead full and active lives. There are certain things that family

and friends should know. One thing is that the parents should not blame themselves for

their child?s disease. There is no way of preventing it. Another thing is for the parents to

treat the child normally. Don?t favor that child or be over protective. Of course an

important one is to remember that CF is not a contagious disease. It is impossible to get it

from someone diagnosed with it. (Daily Apple)

People with CF and their families should always keep an optimistic attitude. Today

scientists are making tremendous advances in genetic interruptions as well as finding a

new treatment like gene therapy. The perspective looks good for the future improvements

in the well being of the patients and the finding of a cure. On a personal level I am one

hoping for that time to come so that my friend will live his life to the very fullest.