Cysstic Fibrosis Essay

Cystic fibrosis is a life – shortening inherited disorder that affects the way in which salt and water move into and out of the body’s cells. It effects mostly the lungs and the digestive system; where thick mucus blocks the small tubes and ducts of the pancreas. (Orenstein) The classic triad of exocrine abnormalities are pancreatic insufficiency, chronic recurrent pulmonary infections and an elevated sweat electrolyte concentration. At birth the pancreas shows signs of disease and the lungs appear to normal. As the disease progresses , the pancreas becomes smaller and fibrotic while the lungs show a progressive increase in size and number of bronchial goblet cells and inflammation in the peribronchial tissue. (Wilkins) They having recurrent
We have two CF genes that determines whether or not we are a carrier. The determination is based on both of these genes being abnormal and the child must receive one abnormal gene from both parents. (Orenstein). The gene responsible is located in chromosome seven. The most common abnormality of the gene is deletion of three base pairs in the DNA. This three base deletion leads to the loss of one amino acid from the protein encoded by the gene. This mutation is known as DF508, which accounts for 70 – 75 percent of the general abnormalities. The severity mainly depends on the genetic form of the disease that the child inherits from both parents. The cystic fibrosis gene (CFTR) contains the code for a large protein that regulates the flow of chloride ions through glands that secrete fluids. Besides regulating chloride movement through the apical cell membrane the chloride channel appears to have a tight spatial arrangement with many other membrane proteins. (Wilkins pg.
There is the coughing technique, CPT and Postural drainage and percussion, oscillating PEP (flutter valve) helps to remove mucus positive expiratory pressure therapy which keeps the airways open, active cycle of breathing technique and autogenic drainage. Exercise helps to relieve the stress along with improving the breathing muscles. Diet also plays a key role since cystic fibrosis patients lose a lot of nutrients. A high calorie, high fat and high protein diet is highly recommended.
Coping with cystic fibrosis is difficult for both child and the parents. The stress of knowing that your child would not live past thirty, being hospitalized for recurrent infections, cost of medical bills, depression, and anxiety. They also feel left out especially from hospitalization and missing school. There are support groups and they need a listening ear to confirm that someone cares while being able to express their concerns.
The prognosis of cystic fibrosis is steadily improving with the new studies, therapies and medications advancements. In the earlier years the average life expectancy was 10 years, now the average life expectancy is past 30 years