The Risks Treatments of Cystic Fibrosis 

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Cystic fibrosis (CF) is a deadly genetic disease that mainly affects the lungs and the digestive system (CFF, 2019). CF causes the body to produce thick and sticky mucus (CFF, 2019), that can clog the lungs, and obstruct the pancreas leading to a liver disease, it also affects the transport of salt and water across cells (Freedman & O’Sullivan, 2009) hence causing diabetes. CF mainly occurs in a child when both parents have the defective gene. The defective gene is what causes the production of thick and sticky mucus, it contains codes for producing a protein [cystic fibrosis transmembrane conductance regulator (CFTR) protein] (Zampoli, 2019) that controls the flow of salt and water outside of the organs. It is this defective gene that leads to a person with CF having diabetes as it disturbs the balance of salt and water outside of the cells. People with only one copy of the defective gene are called carriers, they do not have CF nor its symptoms.

Ever since it was found that CF normally occurs in children due to the defective gene from both parents, in the United States new-borns are screened for CF (Rock, 2007) by testing a small blood sample so that they can be able to tell that a new-born might have a health condition and require further testing. In the olden days it was believed that if a child had salty tasting skin, he/ she was “bewitched” as they routinely died while they were still young, salty skin is now recognized as a sign of CF (Quinton, 1999). It was not until 1936, however, that Dr. Guido Fanconi named this condition “cystic fibrosis with bronchiectasis.” (Nick, 2019). During a heat wave in the summer of 1948, Dr. Paul di Sant’Agnese observed infants presenting with dehydration to a New York City emergency room, this led to his discovery that the sweat of children with CF had abnormally high concentrations of salt and validated the ancient folklore of the disease (Quinton, 1999). This finding is the basis of the “sweat test,” used to diagnose cystic fibrosis. During a sweat test, sweat is collected and the component of salt in the sweat is measured (Rosenstein & Cutting, 1998), if high levels of salt are obtained it indicates that the person has CF. Besides screening and doing a sweat test genetic tests are also done to test for CF. They do this by analysing cheek cells or a blood sample (Rosenstein & Cutting, 1998), these tests are done to check whether a person is a carrier for the defective gene or if they have the defective gene which leads to the confirmation of CF.

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CF cannot be cured but the symptoms are manageable with treatment. The most common symptoms are salty-tasting skin, persistent coughing, shortness of breath, wheezing, poor weight gain despite excessive appetite, greasy bulky stools, nasal polyps (Zampoli, 2019) . CF’s obstruction of the lungs increases the risk of lung infections such as bronchitis and pneumonia (CFF, 2019). Obstruction in the pancreas can lead to malnutrition and poor growth. It is said to also have an influence in increasing the risk of osteoporosis which is a bone disease that decreases the growth of bones.

Since there is no cure for CF the treatments help as much as they can to assist the person with their symptoms thus increasing their life expectancy. As the disease clogs up the lungs it is essential for people with CF to get rid of the mucus that is in their lungs to clear a pathway for gaseous exchange. There are a few airway techniques that are used to help with the clearance of the lungs. The first one is pastural drainage and percussion, whereby the therapist claps the patient’s chest back while they either sit, stand or lie in a position that should help free up the mucus (Freedman & O’Sullivan, 2009), even though this method is not effective it does show some improvement and that the patient is responding well to the treatment. One of the effective ways is by taking inhaled medication as it can reach the airways faster. The medication can be given by aerosol or as a metered dose inhaler (CFF, 2019), these medications assist with thinning the mucus, killing the bacteria and mobilizing mucus to improve airway clearance.

Another way of reducing the risk of lung infection is by making sure that you live a germ-free life, as a person with CF. People with CF can do this by washing their hands from time-to-time, getting a flu shot every year, not smoking and avoid unnecessary contact with people who have contagious illnesses. Antibiotics are an important part of regular care. They can be taken orally, intravenously or through inhalation (Rosenstein & Cutting, 1998). It was also found that there are a few drugs that help to preserve and improve the functioning of the lungs. These drugs are ibuprofen and azithromycin (Rosenstein & Cutting, 1998) they are now considered to be a standard therapy for people with CF.

CF decreases a person’s life span; statistics show that about sixty years ago many children with CF died before they even reached elementary school (primary school) age (CFF, 2019). The median predicted age of survival for people for people with CF is currently in the early forties (CFF, 2019). Life expectancy is affected by the severity of the disease, age of diagnosis and the type of CF gene mutation. Cystic fibrosis is a lethal disease that requires close attention to pulmonary and nutritional variables. Patients should be seen in centres that have experience of caring for individuals with the disease and that can offer expertise in a broad range of areas. Physicians alone cannot provide adequate care; a team consisting of nurses, nutritionists, respiratory therapists and others is necessary to achieve the best outcomes. Even though it may seem like the patient’s lives are at a standstill because of CF it is essential that they have routine therapies and maintain a healthy lifestyle so that they can live active lives.

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