Cystic Fibrosis Cystic Fibrosis is a genetic disease that affects many people today. It takes over a person’s whole life to survive this disease. To survive, people who suffer with Cystic Fibrosis need constant care of this disease. Cystic fibrosis is disorder that is inherited and causes severe damage to the lungs and digestive system. Cystic fibrosis changes the cells that make mucus, sweat and digestive juices. These fluids that are secreted are normally thin and slippery. A defective gene causes the secretions to become thick and sticky. The secretions plug up tubes, ducts and airways in the lungs and pancreas. (Cystic fibrosis) In cystic fibrosis, a defect changes a protein in the body. This protein regulates the movement of salt in …show more content…
This is common in Caucasians and affects 1 in 3,200 Caucasians. The mutation in the gene varies according to the geographical background. Cystic fibrosis occurs in one out of every 15,000 African-American births. The life expectancy of cystic fibrosis patients has been increasing over the past 40 years. (Pinkerton) Every newborn in the United States is tested for cystic fibrosis. Early diagnosis means treatment can begin immediately. A blood sample is taken and is checked for higher than normal levels of a chemical called immunoreactive trypsinogen that released by the pancreas. A test that can be used to diagnose Cystic Fibrosis is a sweat test. A sweat-producing chemical is put on to the skin and then collected. The lab results will come back high in sodium if the patient has Cystic Fibrosis. The sweat test is usually done when the infant is a month old. The sweat test can determine if the infant carries the cystic fibrosis gene or has the condition. Testing must be done at a Cystic Fibrosis center. Also, genetic testing can be done to diagnose for Cystic Fibrosis. DNA samples from blood can be checked for specific defects on the gene responsible for cystic fibrosis. (Cystic
Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly effects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis effects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky causing build-up in the lungs and blocking airways; making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time. The thick mucus can also block ducts in the pancreas. Therefore, digestive enzymes can't reach the small intestine. Without the digestive compounds used to break down food, the intestines can't completely absorb vital supplements. CF also causes sweat to become salty. When patients with cystic fibrosis sweat, a large amount of salt is secreted, which can agitate the equalization of minerals in the blood and cause numerous health issues.
CF is a chronic condition therefore the patients are either seeking medical attention or receiving (sometime involuntarily) a great deal of medical scrutiny and intervention during their lifetime.
Being diagnosed with a chronic illness is a life-altering event. During this time, life is not only difficult for the patient, but also for their loved ones. Families must learn to cope together and to work out the best options for the patient and the rest of the family. Although it may not be fair at times, things may need to be centered on or around the patient no matter what the circumstance. (Abbott, 2003) Sacrifices may have to be made during difficult times. Many factors are involved when dealing with chronic illnesses. Coping with chronic illnesses alter many different emotions for the patients and the loved ones. Many changes occur that are very different and difficult to get used to. (Abbott, 2003) It is not easy for someone to sympathize with you when they haven’t been in the situation themselves. No matter how many books they read or people they talk to, they cannot come close to understanding.
This occurs when special carrier proteins carry solutes dissolved in the water across the membrane by using active transport. When the concentration gradient can not allow travel from one side of the membrane to the other fast enough for the cell’s nutritional needs, then facilitated diffusion is used. The transport protein is specialized for the solute it is carrying, just as enzymes are specialized for their substrate. The transport protein can be
In the Shadow of Illness, the book describes different experiences of families who have or had children with cystic fibrosis (CF). CF is an inherited disease that is passed on from the mother or father who is a carrier, but doesn’t have the condition. Doctors have figured that in this scenario, the parents are likely to have a child with CF. Individuals with CF have to take Cotazymes to help the pancreas digest food. If the person does not take these enzymes, the food goes straight through them as diarrhea. Also, the person’s lungs are affected by a thick mucus that must be removed or thinned before it clogs. Doctors recommend the patient to perform daily breathing exercises that prevent the mucus from thickening; for example, swimming
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Those who have relatives diagnosed with Cystic Fibrosis are at an automatic increased risk to have the disease. For example, in order for a child to have cystic fibrosis, their parents must be carriers of the CF gene. “One CF gene fr...
Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading to breathing problems and bacterial infections in the lungs. Bacterial infections can lead to coughing, wheezing and inflammation. Overtime these infections can lead to permanent damage in the lungs including the formation of scar tissue, known as fibrosis and cysts in the lungs (Genetics Home Reference, 2013). The symptoms and signs of this disease vary but mostly include progressive damage to the respiratory system and chronic digestive system problems. An individuals’ lungs who are infected by cystic fibrosis have bacteria from an early stage. This bacteria can spread to the small airways, leading to the formation of bacterial micro-environments known as biofilms. Biofilms are difficult for antibodies to penetrate, therefore the bacteria repeatedly damage the lung and gradually remodel the airways, resulting in difficultly to eradicate the infection (Welsh, 1995). Cystic fibrosis patients may even have their airways chronically colonized be filamentous fungi and/or yeasts. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm are blocked by mucous and do not develop properly. As well, women may experience complications in pregnancy. Either the c...
An advantage of this test would give this couple a peace of mind to an understanding of this disease and the risks or chances of having a child with CF. If neither has the recessive gene they can proceed to have children with less of a fear or emotional turmoil than normal for parents. A disadvantage would produce more anxiety, stress, and fear if both tested positive for this gene. As a family health nurse I would help ease their emotions and may refer them to a genetic counselor who would explain further testing and alternatives that will help guide them to becoming
There are many types of genetic tests that are administered to the adult population. The more commonly used genetic tests are paternity tests, genealogical tests, and forensic testing. They are quite self-explanatory; paternity tests are to determine relatedness of 2 subjects, genealogical tests are used to formulate a heritage or ancestry, and forensic testing is used to identify or rule out a person that has been charged with a crime. Other genetic tests include presymptomatic testing, used to determine the risk someone has to developing a genetic disorder, diagnostic screening, used to rule out or identify a suspected condition, and carrier screening, used to determine if an individual carries one copy of a gene mutati...
(3) After two weeks, the symptoms are more severe and can range from vomiting to turning blue and/or whooping. Consequently, many people do not experience many symptoms and are often wrongly diagnosed. Pertussis is more frequently observed in young children than in adults. As a matter of fact, most adults are not diagnosed considering the majority do not experience any symptoms besides a hacking cough. (3) Pertussis is often diagnosed through multiple tests including blood tests and physical examinations which are unnecessary in situations where the whoop is present. (2) The most dependent test is made by the PCR or polymerase chain reaction. Mucus from the throat is used and combined with the
When it comes to genetic diseases and conditions, testing can be very helpful and serve a good purpose. People with diseases that are inheritable to their children are encouraged to be tested. For example, in the article about Jewish testing, it says
Coughlin, S. S. (2002). Future challenges for research on diagnostic tests: genetic tests and disease prevention. Journal of Epidemiology & Community Health, 56(5), 335-336. doi:10.1136/jech.56.5.335
1. One couple in the UK who had a child that died from cystic fibrosis was able to screen their new fetus' genes so that their child would be born healthy (Begley).
...tifying the parents’ genetic potential for producing additional children with cystic fibrosis and, through presymptomatic identification, permitting the family to avert months or years of delay in the correct diagnosis of a child with chronic respiratory problems or poor growth.