Cystic Fibrosis Essay, Research Paper

CYSTIC FIBROSIS

Dear Mr. and Mrs. Marks:

I am the doctor for your hospital and have prepared the following paper for you to look at and possibly use. It includes information on what cystic fibrosis really is, what treatments there are, what you two can do for your child, and how it is inherited. I hope this document is useful to you in your incoming struggle against this horrible disease.

It is good to know that you are not alone. Every day four children in the United States are diagnosed as having cystic fibrosis. Cystic Fibrosis is the most common inherited disease among Caucasian. Approximately one out of every two thousand Caucasian babies is born with it. I am sorry that this news has to be bad, but it is important that you have all the information you can. Of the four thousand diseases that are known to be inherited from our parents, cystic fibrosis is the number-one killer. Each day three people die from it. Despite this bad news, CF is no longer the nearly automatic death sentence it used to be. Improved treatments are allowing more than half of the people with CF to live into their mid-twenties, and some are already in their forties, fifties, and even sixties. It will be very important for you t frequently check with doctors for new medical advancements. More and More discoveries are made every day and one of them very well might be able to help you situation.

You cannot catch cystic fibrosis from someone who has it. It is not a contagious disease, cut a hereditary or inherited one. A child but be born with it to have the disease. The symptoms usually begin at an early age, but they last throughout an entire lifetime.

The problems in CF start with thick, sticky mucus in the lungs and digestive systems. This mucus replaces healthy tissue with fibrous scars and fluid-filed cavities called cysts. Mucus builds up and clogs the breathing passages and the pancreas, an organ that produces digestive juices. These clogs lead to frequent lung infections and digestive problems. Over time the continual infections may cause the lungs and heart to weaken, until they are no longer able to function properly ending in death.

Mucus is normal in lungs. It helps to protect the lung and air passages by removing germs and dust. Normally mucus s thin and slippery, but when a person has CF, the mucus-producing cells absorb too much water. The excess water makes the mucus thick and sticky and this can plug up ducts and passageways. When a mucus plug forms in the pancreas or liver, it blocks the flow of digestive enzymes to the intestine. Then the enzymes are not able to do their job, and food is not digested properly. In addition, the mucous plugs cause enzyme-producing cells to be destroyed and replaced by scar tissue, which makes even less enzymes available for digestion.

Since your child is a mal, there are some specific consequences he will face later in life. In males, mucous plugs stop up ducts leading out of the testes and prevent sperm from passing through. These are the same ducts that are cut in a vasectomy, to make a man sterile. As a result, most adult males with cystic fibrosis are unable to father children.

As I am sure you were, most parents are quite surprised when their child is diagnosed with cystic fibrosis. The way they find out I by recognizing common cystic fibrosis symptoms such as:

salty-tasting skin

persistent coughing

failure to gain weight

large amounts of mucus

persistent wheezing

frequent and foul-smelling bowel movements

recurring pneumonia

enlargement of fingertips and toes (”clubbing”)

small growth inside the nose

The reason this disease is usually not caught right away is because these symptoms are very common to other childhood ailments. Also, symptoms may be very mild during the early years. Your case follows this since your son is five years old.

Almost everyone with cystic fibrosis will eventually suffer from lung disease. Respiratory problems are the most serious symptoms of cystic fibrosis. How well a person with CF can get along and how long he will live depends mainly on how serious the lung problems are.

When a person has cystic fibrosis, the mucus becomes thick and sticky-so thick that the cilia cannot move it along properly. Mucus is supposed to help clear the breathing passages, but in CF the sticky mucus forms a mucous plug instead, and stops up small airways. Then air can’t gt into the alveolar sacs, and the exchanges of oxygen for carbon dioxide cannot take place.

Almost all with cystic fibrosis eventually find that the tips of their fingers and toes become enlarged. This is calls clubbing. It is not known exactly why clubbing occurs, but t also occurs with other lung diseases as well.

Today mot children who are diagnosed with CF are referred to a special cystic fibrosis clinic. The staff at these clinics are especially trained for cystic fibrosis care and treatments. Most patients make regular visits to CF clinics.

The doctor will watch a child’s progress carefully. He or she will be concerned with noting symptoms as well as how the child is feeling and acting. Certain test will also help the doctor figure out what the disease is doing and what the best treatment plan might be.

Chest X-rays are usually taken at least once a year to help the doctor see how the diseases has affected the lungs. Breathing tests are done much more often to give the doctor an even better idea of how the lungs are functioning.

For most people CF, long-term pulmonary disease is the most serious problem. With proper treatment, though, the damage to the lungs can usually be lowed down. The doctor will set up a treatment program that will help to keep the airways from becoming blocked, as well as to prevent and treat lung infections.

Several different types of medications are used to treat the respiratory problems of cystic fibrosis. Rather than swallowing pills or liquids, many medications can be breathed right into the lungs in the form of an aerosol. A liquid medication is usually mixed with a saline solution and then turned int a mist that the person can inhale through a mask or mouth piece.

Another important way of keeping the lungs clear is exercise. Most children with CF can take part in most physical activities such as sport and games, swimming and bicycling, and they are usually encourages to do so. Exercise can be beneficial to people with CF for any reasons. It helps build up strength in the heart and breathing muscles. Exercise also help loosen up the mucus in the lungs and stimulates coughing, which helps clear the mucus out of the lungs. After adolescence, boys with CF often are healthier then girls with CF. One reason may be because boys usually have better developed chest muscles.

Antibiotics are used to help the body to fight infections. These drug are usually an important part of therapy because respiratory infections occur frequently in CF. Antibiotics kill the bacteria that causes infections. Some will have to take them all the time while others only once in a while. It all depends on the person and how the disease has affected the body. Antibiotic have greatly helped to extend the life pan and quality of life for people wit h CF. Aerosol antibiotics go right into the airways, rather than having to pass through the digestive system and into the blood before finally reaching the lungs. Some antibiotics are effective when taken this way, Aerosol antibiotics are sometimes taken after a chest physical therapy.

Cystic fibrosis is a recessive disease. This means that two CF genes must be put togther in order to have the disease. This is what has happened to your son. Each of you carry one recessive cystic fibrosis gene. In the # 1 punnet square below, the gene combinations that can result from your genes are shown. As you can see, each child has a 50% chance of being a carrier, a 25% of having no cystic fibrosis gene, and a 25% chance of having cystic fibrosis. The large ?C’ represents a normal gene. The small ?c’ represents a cystic fibrosis gene.

Punnet square C c

C CC Cc

c Cc cc

If you decide to have more children, it is important

that you know you have a one in four chance of having another

child with cystic fibrosis. If you do have more children and

they do not have CF, you will need to explain to them the

special needs of their older brother.

Some childhood illnesses can affect the lungs, so it is

important for children with CF to receive all the normal

immunization shots, as well as a flu shot each year. Some

parent who children have CF may try to overprotect their

children and keep them inside so that they will not catch any

sicknesses from other children. But it is impossible to protect

children form all germs, and a child’s emotional and mental

health and growth depend on living as normal a life as possible.

The doctor may simple advice that the child should avoid

unnecessary contact with any one who has a cold or other

contagious illnesses.

Cough suppressant are not good for children with CF. These

medicine relieve symptoms, but they do not remove mucus from the

lungs. If your child coughs more than usual, this mabey a sign

that there is a lung infection that should be treated. People

with CF are advised to eat much more than the normal daily

recommended allowance for people in their age group, sometimes

as much as twice the calories.

People are concerned when someone they love becomes ill.

But when a child is sick with the measles or the flu, a family

knows the child will soon be better. When a family member has a

chronic illness, one that will not just go away, it is not

uncommon for any different emotional and psychological problems

to develop for the patient, the family, and their friends.

Everyone reacts to chronic illness differently. But there

are many similarities. You may very well feel concerned and

worried about your child because, you do not know what to

expect. You and other family members may feel resentful of al

the attention and time they have to devote to your child’s

illness.

Most families with a chronically ill child establish a

normal routine that incorporates your child’s treatments and

other needs. Changes in the routine can sometimes be difficult,

but they are often beneficial. Nursery schools and day care

centers can be rewarding experiences for a child with CF. As

your child becomes older, he may very well rebel against the

necessary daily treatments he will need to receive. It will be

your goal to make these treatments as fun as possible by

watching television, listening to music, or playing a game.

It has only been since the early 1950’s that cystic

fibrosis has been categorized as a specific disease. This means

that there is still a long away to go if curing CF. I sincerely

encourage you t frequently check with me or another doctor for

new developments and discoveries in the fight against cystic

fibrosis.

Sincerely yours,

Dr. Craig Hintz

1997-1998

Encyclopedia Britannica- Cystic Fibrosis