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Kendra Ereaut Mrs

Updated January 17, 2019
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Kendra Ereaut Mrs. Green Writing 2203 27 Mar.

2017 Cystic Fibrosis Cystic Fibrosis (CF) “also known as mucoviscidosis” (The American Medical Association Encyclopedia of Medicine, 1989) is an inherited disease (Mayo Clinic Staff, 2017), it happens to be the “most common fatal genetic disease affecting Canadian kids”. Approximately “1 in every 3600 children in Canada has CF” (About CF-Cystic Fibrosis Canada, 2017). Cystic Fibrosis affects the lungs, pancreas, intestines, liver, bowels, sex organs, and sinuses. The severity of this disease varies widely from mild to very severe and can fluctuate throughout a CF patient’s life (Medline Plus, 2017). The gene for Cystic Fibrosis can be found on chromosome 7 (AMA, 1989).

Most Cystic Fibrosis patients have trouble digesting fats and proteins in foods (About CF, 2017), in order for them to digest food properly and to get the nutrients needed from the food replacement pancreatic enzymes must be taken with meals (AMA, 1989). CF patients have lots of trouble with their lungs because their mucus are thick and sticky (Mayo Clinic Staff, 2017) which causes them to have a “persistent cough with productive thick mucus” (About CF, 2017), this mucus “plugs up tubes, ducts, and passage ways in the lungs” (Maya Clinic Staff, 2017), which leads to lung damage, inflammation, and infections (About CF, 2017). Cystic Fibrosis has many common symptoms and signs, the disease is often obvious soon after birth, other times it can go undetected for months or years (AMA, 1989); the most common symptoms include: coughing, wheezing, chest pain, asthma, shortness of breath (Sharma, 2016), stunted growth, bowel disturbances, intestinal obstruction, growths in nose and sinuses, sterility (more common in males than females), and abnormally salty sweat and skin (AMA, 1989). The abnormally salty skin and sweat is caused by a “disruption in the body’s salt balance, causing too little salt and water outside the cells, leading to the thin layer of mucus that keeps the lungs free of germs to become sticky” (Medline Plus, 2017). Cystic Fibrosis is “associated with several other symptomatic diseases and conditions” (Mayo Clinic Staff, 2017). This includes many lung diseases and infections, CF related diabetes, sinus infections, and clubbing of fingers (About CF, 2017).

Furthermore, Cystic Fibrosis patients while having an increased appetite they have a hard time gaining and keeping weight. Malnutrition and vitamin deficiencies are a big problem with CF patients because they have the inability to absorb needed nutrients (About CF, 2017). A person who inherits the gene (DeltaF508) in a single dose is called ‘carriers’ and they have no symptoms. 1 in 22 people are carriers, and they do not know it. The chance of a white couple being both carriers is 1 in 500, while the chances of an African American couple both being carriers is 1 in 90000.

The Cystic Fibrosis gene can be detected in both carriers and in unborn children by a medical test (AMA, 1989). Every 1 in 200 live births a child is born with Cystic Fibrosis (AMA, 1989), there is a 25% chance that a child of two carriers will not have CF or be a carrier of CF, there’s a 50% chance the child will inherit only one copy of the gene, which means they do not have CF but they are a carrier of it (About CF, 2017). Young children with CF often get persistent chest infections, pneumonia, bronchiectasis, and bronchitis. These all lead to lung damage (AMA, 1989). Cystic Fibrosis in the early stages can also be confused with bronchitis, or celiac disease because of how it presents with lung infections (Ratjen and Taylor, 2014). Most adults living with CF have the common symptoms, and usually get less chest infections, pneumonia, and bronchitis, since their bodies have become accustomed to viruses (Mayo Clinic Staff, 2017).

The majority of Cystic Fibrosis diagnoses happen shortly after birth since screening of newborns are available, CF can easily be confirmed by lab test such as a sweat test. A sweat test is done on any person suspected of having cystic fibrosis, a “sweat test measures the amount of salt chemicals (sodium and chloride) in sweat. Generally, chloride is measured” (AMA,1989). Another test includes: blood screening, which uses “a sample of blood to screen for an enzyme called IRT” (Ratjen and Taylor, 2014). Several test are also used to “monitor disease progression and identify any complications that may occur.” This can include X-rays, CAT scans, blood test, and lung function test, as well as other things (Sharma, 2016).

Usually diagnosis can be confirmed in the first two weeks of a child’s life but it sometimes can take up to 17-18 weeks, with the median age being even higher at 6-8 months, the age of diagnosis can vary widely (Sharma, 2016). In Canada there are over 4100 people living with Cystic Fibrosis that attend CF Clinics. The Cystic Fibrosis Clinics provide “specialized multidisciplinary care for children, teens, and adults with cystic fibrosis.” At these clinics there are usually “gastroenterologists, specialized nurses, dietician, physiotherapist, social worker, and psychologists”. The patients are seen a minimum of every six months for follow-up assessments (About CF, 2017). People diagnosed with CF suffer permanent lung damage and have a shortened life expectancy (About CF, 2017), but due to the more advances in medicine and the growing knowledge about CF people are now able to live better and longer lives, people living with Cystic Fibrosis hundreds of years ago never seen past their teens but now with all the advances in treatments and medicines people are now living until their mid too late 40’s and 50’s (Medline Plus, 2017).

Bodies react to treatments differently, so all treatments for Cystic Fibrosis patients are different (Healthwise Staff, 2015), treatments usually consist of: diets that are rich in carbs, proteins, and salts, “multivitamins (including fat-soluble vitamins), nebulized, inhaled, and oral antibiotics,” maintaining lung functions by clearing airways of mucus, chest physical therapy, and “mucolytic agents (Pulmozyme, Ventolin)” (Sharma, 2016). Many CF patients also have to take pills called Cotazym E.C.S. 20 which is a “pancreatic enzyme supplement and replacement therapy in conditions where pancreatic enzymes are either absent or deficient, resulting in inadequate fat and carbohydrate digestion.” (Mayo Clinic Staff, 2017). Depending on the severity of a patients Cystic Fibrosis, the number of pills that must be taken with each meal varies.

Many complications can arise if patients do not follow their doctor’s instructions on how to do or take their treatments. If patients do not take their pancreatic enzymes then their small intestines will become blocked and ducts to the pancreas will also become blocked (Ratjen and Taylor, 2014), which could even cause problems in the bowels. Other complications include damaged airways, chronic infections, and swollen airway tubes (Mayo Clinic Staff, 2017), these are all caused by failing to do physical therapy, and using mucolytic agents which is needed to clear out the mucus from the airways. If treatments can no longer help a patient and their health is deteriorating their doctors will put them on a lung transplant waitlist (Ratjen and Taylor, 2014).

Even if a person with CF gets a lung transplant, that does not rid them of the disease, since Cystic Fibrosis affects many parts of the body the disease still affects the other parts of the body, the lungs are the only body part no longer affect by CF. If a person living with Cystic Fibrosis gets a chest infection the earlier they get treatment with antibiotics the less lung damage will be caused (AMA, 1989), and once lung damage is caused it cannot be fixed. CF patients must also stay away from other CF patients (Ratjen and Taylor, 2014) because no patient has the same degree of sickness and they carry certain bacteria that is very harmful to other CF people, and from being near each other they could end up in the hospital from each other’s sickness. Cystic Fibrosis is a terrible disease that currently has no cure, researchers around the world are looking for a treatment directed to the actual cause of the disease, so far there has been no luck, but new research is leading to the possibility of a cure (Mayo Clinic Staff, 2017). “A cure for CF would be invaluable, since it is the leading disease amongst Caucasians” (Healthwise Staff).

Scientist now have a better understanding of the causes of CF and now know what to pay more attention to. Many therapies that scientists have come up with has had major positive effects on Cystic Fibrosis patients, which keep people optimistic about finding a definite cure. The disease is “generally progressive” (Mayo Clinic Staff, 2017), people who does not show obvious signs of CF can develop revealing symptoms the older they get. As long as CF patients and their families are waiting and hoping for a definitive cure, the symptomatic treatment provides the only hope for an increasing but still uncertain, life expectancy (Sharma, 2016).

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