Cystic Fibrosis
Cystic Fibrosis is an inherited lifelong disease that affects more than 30,000 children and young adults in the United States (Kids Health, 2007).This genetic disease which affects the transportation and clearance of electrolytes and fluids across cell membranes from exocrine glands (Yourlunghealth.org, 2004). Exocrine glands are present everywhere in your body that comes into contact with an external environment. There is no cure for cystic fibrosis (Medline Plus, 2009).
Cystic Fibrosis affects the lungs, pancreas, digestive tract and reproductive tract (American Lung Association, 2008). Cystic fibrosis mainly affects the lungs and pancreas. It causes the lungs to create thick, sticky mucus blocks in the airway making it very hard for the child to breath and also very easy for them to get infections. This can lead to tissue damage and airway inflammation (Yourlunghealth.org, 2004).Eventually the chest will assume a barrel shape with increase in size in the front and back of the child (Price and Gwin, 2008).In the pancreas mucus blocks prevent enzymes that help to break down food from reaching the intestines and aiding in digestion(Genetics Home Reference, 2009).Since the digestive tract cannot digest food properly this can lead to many problems, such as poor absorption of vitamins and minerals which can ultimately lead to malnutrition (Yourlunghealth.org, 2004). Kids with cystic fibrosis have trouble gaining weight even when they have a normal diet and a healthy appetite (Kids Health, 2007). Cystic Fibrosis does not affect the reproductive tract in a life threating way. It affects males and females differently. In males with cystic fibrosis the Vas Deferens is atrophied or missing this tube is what carries the sperm (Genetics Home Reference, 2009). This condition is called congenital bilateral absence of the Vas Deferens. Most males born with cystic fibrosis are infertile. In females it is way different females are not born infertile. Females with cystic fibrosis the cervical mucus is very thick and makes it very difficult for the sperm to penetrate the egg. (Yourlunghealth.org, 2004).It is possible for females with cystic fibrosis to have children of their own. Cystic fibrosis is most commonly seen in Whites (American Lung Association, 2008). It is estimated that 1 in 2,500 births of whites will have cystic fibrosis compared to 1 in 13,500 Hispanics, 1 in 15,100 African Americans and 1 in 31,000 to more than 100,000 Asians. In the united states about 1 in 3,700 births, the child will have cystic fibrosis. Cystic Fibrosis is not something that the child can get from someone else. It is not contagious. The only way a person can get cystic Fibrosis is if both parents are carriers of the CF gene. The CF gene is found in Chromosome number 7(Kids Health, 2007). This gene was discovered in 1989, this gene controls the Sodium and Chloride at the cell membrane level (Price and Gwin, 2008).With this defect in chromosome 7 the secretions of a person with CF are thick and pasty. There are about 1500 mutations and DNA sequence variations have been identified since 1989(American Lung Association, 2008). The Delta F508 is the most common mutation found in all races that have CF. This mutation account for about 70 percent of CF genes. Each time two carriers of the CF gene conceive there is a 25 percent chance that the child will have cystic fibrosis, a 50 percent chance it will be a carrier of the gene, and a 25 percent that the child will not have CF nor be a carrier (American Lung Association, 2008). These odds remain the same with each child the carriers conceive. Diagnosis is usually made early mainly during infancy (Kids Health, 2007). However, 15 percent of diagnosis are made later in life because their symptoms are not as bad. Infants with Cystic fibrosis usually have Meconium Ileus this means the infant could not pass their first stool. All infants have meconium but infants with CF there meconium can be too sticky and thick for them to pass. It can also completely block the intestines up. Children with CF do not gain weight as expected; they may also fail to thrive in spite of a normal diet. In these children pancreatic juices are blocked so the much needed digestive juices are not entering the intestines. Without these juices the intestines cannot absorb fats and proteins so they just pass through the child. As fats pass through the child this makes their stool appear bulky and they smell really bad. Diagnosis is important to a child with CF. There are several ways to diagnosis CF. Diagnosis is based on pulmonary manifestations, a family history, or a positive sweat test (Sharma, 2008). The sweat test is ordered when a patient has symptoms of or related to CF (American Association for Clinical Chemistry, 2009). Symptoms of CF include noticeably salty sweat, frequent respiratory infections, meconium ileus in small infants, bulky or greasy stool etc. A positive sweat tests mean there is a good chance the patient has CF. The tests should be repeated twice whether the tests was positive or negative. This test is not very useful in newborns because they will not produce enough sweat for the test. It will usually be done when the baby is a few weeks old. The sweat test may not need to be done if other tests have already confirmed CF. Another test used to confirm CF is the CF Gene Mutation Panel. This test can be done as part of a prenatal workup, to establish carrier status in the parent to determine the risk of their child being born with CF. The mother is usually tested first if she is not a carrier any child that would be a carrier would get it from the father’s side. If the mother is a carrier the father is then tested for carrier status. In either case follow-up teaching is necessary to provide the couple with information on what it means to be a carrier of the CF gene. This test is ordered to rule out CF if the patient has any symptoms of this disease if they haven’t already been diagnosed. Once a child is diagnosed with CF, their whole life changes and so does their families. Since there is no cure for CF treating CF symptoms is all they can do. Prognosis has improved over the years. Nutrition is very important to a child with CF. It is important to remember a balanced diet is important to the whole family (Cystic Fibrosis Foundation, 2002). This will include dairy products, grains and starches, fruits and veggies, and of course proteins such as meat, poultry, fish and eggs. Higher body weights have been connected with better lung function so do everything you can to add extra calories to the meal. Give Whole Milk with every meal. Also, whole milk dairy products such as cottage cheese, pudding, adding cream on cereal, cooking with margarine or butter in everything and of course adding extra cheese on casseroles of on pizza. Vitamin Supplements are very important because of malabsorption of Vitamins. Adding enzymes are important also, what kind and how much will be decided based on weight, amount the child eats, bowel movements and growth. Do not change the dose without talking to your doctor even if your child has been gaining weight. Adding salt to the diet is important because the CF child loses it when they sweat more than a child who does not have this disease. Adding salty snacks such as pretzels, salted crackers or salted bread sticks can replenish what the child lost. The main cause of death in people with CF is lung infection (Waters and Ratjen, 2008).People now live longer because of treatments with antibiotics. Antibiotics such as Tobramycin it is effective against the most common source of bacteria that causes lung infections Pseudomonas aeruginosa. (Cystic Fibrosis Foundation, 2007).The antibiotic drug, dosage, and the length of time to take the drug all vary between person to person. There are several ways for a person to take medication inhaled, oral; IV antibiotics are all the different ways to prevent infections.