Cystic Fibrosis Case Study

Jonathon Jackson is thirty years old when his father dies of complications from a genetic disorder called Cystic Fibrosis. There is now a test available for the status of this genetic disease, and Jonathon opts to be tested. Jonathon discovers that he has the mutation responsible for the lethal disorder. Jonathon has worked as an air traffic controller and his company has learned of his results of his test, and as a result the company has dismissed Jonathan from his job where he had worked faithfully for more than eight years. Cystic Fibrosis is named because of the fibrous scar tissue that develops in the pancreas, one of the main organs affected by the disorder. In Australia, one in two-thousand five-hundred people are effected and born with
the illness, which is one in every four days. This essay will research if Jonathon was subject to genetic discrimination and if the company he works for is allowed to share such information of the mutated gene being discovered as part of the employee. This paper will also discuss recommendations for Jonathon to remedy the situation.
On average one in twenty-five people carry the Cystic Fibrosis gene in Australia and estimates show that twelve million American’s are currently carriers of the disease and thirty-thousand are effected. Scientists believe that the dysfunction came into the human genome about five thousand years ago, to initially protect from older diseases. Today there are more than one-thousand six-hundred mutations that lead to the gene, some particular to a line of family and some present in seventy-two percent of all cases. The disorder is found on the seventh chromosome, which is the pair that carries the code able to read and produce enzymes and protein. In relation to Jonathon’s workplace, there may be other people that carry the mutated gene because of these high statistics.
Cystic Fibrosis has many symptoms and traits which vary in severity from person to person.
Someone with Cystic Fibrosis, their lungs and digestive system are affected because of an error in the exocrine gland. This particular system is responsible for the function of producing sweat, tears, saliva and mucus; the production of epithelial cells. The disorder makes the body create defective cells called Cystic Fibrosis Transmembrane Regulator. When the protein is detective, the producing cells can’t regulate how chloride passes around the human system unbalancing the essential mix of salt and water needed to produce a normal thin coating of mucus. A characteristic that people with Cystic Fibrosis have is ‘salty’ skin because of the unbalanced salt production that is sweated out. People with the genetic mutation create thicker, stickier and larger amounts mucus within the lungs, airwaves and digestive system, impairing the digestive functions of the pancreas and traps bacteria in the lungs. Extra amounts of bacteria in the lungs can cause reoccurring infections which permanently damage the organ similar to smoking cigarettes. In the pancreas, this thick mucus blocks the distribution channels that would transport produced enzymes to the intestines for the digestion of food. When this happens, the body can’t process or absorb nutrients as well as it should be able to. Having poor fat absorption makes the faeces of the effected bulky and oily and increases deficiencies of vitamins
that require fat. Depending on the severity of the disease, having poor fat absorption may also cause the production of unnecessary intestinal gas which can cause abdominal pain and discomfort.
To remedy these issue brought up with Cystic Fibrosis, the effected has to undertake many daily tasks to be able to function properly. They will have to consume a large amount of enzymes in pill form to be able to digest food properly. This can be range to forty to one hundred tablets per day depending on the strength and how much the person eats. The individual also has to perform up to three hours of airway clearance each day in the form of physiotherapy to help the person breath properly. Other ways used to clear the airways in combination with previous methods is core strength exercises, aerosol mist inhalations using a nebuliser and antibiotic therapy to clear chest infections. Low fat absorption means that the effected will have to have a nutritious but high calorie, high salt and high fat regime throughout the day. Salt and vitamin supplements could also be taken if the person is lacking these bases if a diet isn’t helping. New experimental treatments are also currently being tested such as a nasal spray containing a correct copy of the gene, and protein repair therapy.
Over the last twenty years, knowledge and diagnosis of Cystic Fibrosis has vastly improved, although no direct cure has been found.
Starting thirty years ago, Australians are tested at birth for a range of medical conditions including the spoken genetic disorder, but doesn’t always detected everyone immediately. 15% percent of people carrying the disease can be identified when in adulthood. If the person is effected by the mutation, symptoms such as bowel blockages after birth can make a diagnosis for babies, but the absolute test is the ‘sweat test’. This is where sweat samples are taken and if chloride levels are above sixty percent the person is detected to be effected by the mutation. Also babies effected don’t gain weight and thrive normally regardless of a nutritious and proportioned diet. During pregnancy, a mother can test for Cystic Fibrosis but can’t currently predict if the child is effected or a carrier, or predict the severity of the symptoms. An autosomal recessive disorder states that a mutation must be present in both parents in order for the disease to develop. Cystic Fibrosis is an autosomal recessive disorder, and thus occurs equally in both male and
females.