Cystic Fibrosis Essay, Research Paper
About 1 out of 201 Caucasian people carry at least one of the fatal defective genes that cause cystic fibrosis, CF, or mucoviscidosis (in Europe) although carriers don’t show any signs of the disease. Therefore, 10 million people carry the defective gene and don t know it. Consequently, it is one of the most common genetic defect in the United States.
Cystic fibrosis is a autosomal recessive gene. That means that it may, but doesn’t always have to skip generations. In order to have this disease, both parents must be carriers. If one parent has Cystic fibrosis and the other one is not a carrier than there is a 100% chance that their child will be a carrier. If one parent has Cystic fibrosis and the other is a carrier than the child has a 50% chance of having CF and a 50% chance of just being a carrier. If both parents are carriers than their child will have a 25% of having CF, a 50% chance of being a carrier and a 25% chance of not being affected at all. CF is common in both males and females, so there is not a specific sex that it is more common in.
How does a person know if they have CF? There are many symptoms to this deadly disease including: salty tasting skin, constant coughing, large amounts of mucus, trouble gaining weight, frequent greasy, foul smelling bowel, growths in the nose (nasal polyps) and clubbed or enlarged fingertips and toe tips is another symptom. Now there are many tests that can be done to find put if a person has CF.
One way which CF can be detected is to observe the symptoms. A person doesn’t need to have all the symptoms in order to have cystic fibrosis, but they usually show most of them. Another way are different genetic testing. Doctors can now do genetic testing for CF, but about 10 years ago they couldn’t. In 1989, the location where the of the defective gene on chromosome number 7 is was discovered by Francis S. Collins from University of Michigan. Tests can now be taken to see if an unborn child is infected with CF such tests are amniocentesis, chronic villus biopsy3 and a removal of cells from the embryo during invitro.
There are now many drugs that are in the market and many more that are in development. Treatments mainly depends on what organs are effected. The first new drug therapy in 30 years was approved by the Food and Drug Administration in December of 93′. It’s a mucus-thinning drug called Pulmozyme . Pulmozyme has reduced the number of respiratory infections and improved lung function. There is also postural drainage or thumps. This treatment is when the patient is hit on the back and chest with cupped hands to loosen the mucus so it can be coughed up easier. There are many antibiotics that help treat lung infections. Also medicated vapors are inhaled and open clogged airways. Since mucus in the intestines causes the food not to get digested, there are enzyme supplements to help. Those enzymes allow patients to go back to a normal diet. Due to the high concentration of the enzymes the end result is deterioration of the pancreas leading to diabetes. With the supplements CF patients can eat normal food.
Cystic fibrosis is a disease that doesn’t take any prisoners. All victims will eventually die from complication due to CF. There are approximately 3,000,018 children and adults that are living with this disorder. Now that scientists have found the gene in which CF is located, new medicines and new therapies will hopefully be invented. Perhaps in the next century, we can say that cystic fibrosis is completely abolished. Maybe the new medications and therapies won’t have to be as painful as they are now. But maybe in the end maybe life will be better for Cystic fibrosis patients.