There is a wealth of available information, data and studies on CF. What it all means to the patients who suffer from this debilitating and life-threatening disease will be understood as this essay proceeds.
Chapter One
Diagnosis and the Anatomy and Physiology of a Life Threatening Disease: Cystic Fibrosis child is born in the UK and, since 2007 are tested for CF in this country where cystic fibrosis is the most common inherited life-threatening disease prevalent amongst Caucasians who at a ratio of 1 in 25 people carry the faulty gene that causes CF (Cystic Fibrosis Trust, 2008, available at: (http://www.cftrust.org.uk/aboutcf/whatiscf/).
While the UK's Cystic Fibrosis Trust cites the average life expectancy of a person with CF as 31; information on the site also says that children born with the disease today might expect to live even longer; presumably because of the advances in diagnosing treating CF (Cystic Fibrosis Trust, 2008, available at: (http://www.cftrust.org.uk/aboutcf/whatiscf/).It is towards this goal in increasing the quality and length of life expectancy that the Trust works toward, because, it says, the cure appear to be a long way off (Cystic Fibrosis Trust, 2008, available at: (http://www.cftrust.org.uk/aboutcf/whatiscf/).
Discovery of the genetic disposition of CF has lead to current abilities to diagnose the condition prior to birth through a process called amniocentesis (Conway, Littlewood, Brownlee, and Peckham, 2003, p. 10). Amniotic fluid is aspirated from the fluid surrounding the baby (p. 10). The amniocentesis is an invasive procedure, which carries with it the risk of miscarriage following the procedure (p. 10). Chorionic biopsy is an embryonic testing method which has a "small but definite risk to the baby," and should only be performed with a decision to terminate the pregnancy upon discovery of a CF positive diagnosis (p. 10).
After birth, CF can be identified by way of a fairly simple Guthrie test, which involves pricking the infant's heel (a test that reveals other information too) (Cystic Fibrosis Trust, 'How is Cystic Fibrosis Diagnosed, 2008, NPG).
Modern technology now allows for the disease to be detected even prior to conception for couples who have a family history of the disease (Conway, Littlewood, Brownlee, and Peckham, 2003, p. 10).
What Science Looks for in the 1930s, Dr. Dorothy Andersen, a pathologist at Columbia University, noted the pathological similarities in the cases of certain children who were just days old, to as much as several years old (Clark, 1997, p. 27). In 1938 Andersen published a paper identifying the disease that would come to be known as cystic fibrosis, opening the doors for research that would, by the 21st century, identify the genetic mutation that responsible for the disease, and see the accumulation of a vast body of research and work around the diagnostics and physiology of he disease (p. 27).
CF is an autosomal recessive disease that has been identified by its genetic footprint of a defective cystic fibrosis transmembrane conductance regulator (CFTR) (Berrocal, et al., 2004, p. 1305). This genetic defect of the CFTR results in the body's inability to transport chloride across the membrane of the epithelial cells that are the expression of CFTR (p. 1305). This result is abnormally thick secretions that impact every vital organ in the body: the pancreas, the liver, the lungs, paranasal sinus tract, and even the reproductive organs (p. 1305). It is the resultant organ dysfunction and inability to deal with the abnormally thick secretions that eventually brings about death, usually as a result of respiratory disease and failure because of the CF (p. 1305). However, if an individual suffering CF did not die as a result of breathing disorders and problems, the other impacted vital organs would eventually bring about death too (p. 1305). Unfortunately, there is at this point little good news in the way of prognosis; except that the average life expectancy of individuals suffering from CF has gone from about five years old in the 1960s, to an average of 31 years old today (Cystic Fibrosis Trust, 'How is Cystic Fibrosis Diagnosed, 2008, NPG).
The complexities of the disease are much greater than just this notion of CFTR. It is an inherited disease passed on when both parents, usually of Caucasian European ancestry (it is seldom found in Asians or people of Black African descent (Berrocal, et al., 2004, p. 1305)) (Lewis, 1993, p. 22). When it is passed on to the carrier, either sex of the children of the couple whom each carry a copy of the mutated...
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