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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...
22). A child of carrier parents has a 1 in 4 chance of being free of the disease, and a 1 in 2 chance of being a carrier like the parents (p. 22).
The diagram below demonstrates the autosomal inheritance chain (006 gif):
While CF is a very physical disease, a painful disease, it has a psychosocial element too.
Social researcher and physician, Dr. John S. Rolland (1994), says that for those families into which a child stricken with CF is born, it requires the family to define itself in a new way that is consistent with the chronic disability, which will one day probably result in their loved one's death (p. 19). Rolland says the family needs a way of describing systemic illness in a way that recasts the biological disease in psychosocial terms (p. 19). Only in this way can the family achieve the relevant psychosocial schema in which it needs to form its disabled identity and to develop the metalanguage that allows movement and discourse between the world of the family's and their stricken loved one and the world around the family that is not stricken (p. 19).
Even though there is a social aspect to CF, as acknowledged by the St. James's and Seacroft University Hospitals' 'Leeds Method of Management (2003),' an informative book put together directed towards facilitating the psychosocial aspect of CF; Simon J. Williams, Lynda Birke, and Gillian a. Bendelow (2003) conclude that there remains a disjoint between the biologists and sociologists that causes the biologists to ignore for the most part the social aspect of disease and to concentrate solely on the "proximal" causes of the disease (p. 16). It is, after all, unraveling the mysteries of the biological, the molecular, and the genetics of the disease which will one day in the future yield the cure.
Complex Physiology
To begin understanding the physiology of CF, consider first that the body has a vast network of ducts lined with cells (p. 28). These are the epithelial ducts, serving as internal "tunnels" between the body's internal organs in the delivery of substances (p. 28). Not the least of these substances are nutritional substances that sustain the overall bodily ability to convert substance to energy and to thrive (p. 28). Through the epithelial ducts the body is able to move substances without threat of contamination or spillage (like an oil spill on the pristine Alaskan waters) (p. 28). The ducts assist in the functional priority of each of the body's vital organs; the pancreas and the liver produce and send digestive enzymes along epithelial duct routes to the intestines, without which the body could not digest food and convert to energy the necessary substances to fuel the bodily functions (p. 28).
Epithelial ducts line the lungs as well, and the reproductive organs (p. 28). The cells that line the epithelial ducts, like most human cells, have a nucleus containing 46 chromosomes (Bennett and Peckham, 2002, NPG). The chromosomes are long coils of double stranded DNA (NPG).
Forty-four of these chromosomes are matched into twenty-two pairs and are numbered from 1 to 22 (autosomes). The last pair makes up the sex chromosomes, X or Y. Females receive two X chromosomes while males receive an X chromosome from their mother and a Y from their father (NPG)."
The chromosomes contain some 35,000 genes that are made up of segments of DNA (NPG). The DNA segments are the body's map, dictating the body's production of protein (NPG). It is this production of protein, or lack thereof, wherein is the problem that is known as cystic fibrosis (NPG).
In 1985 the gene was localised to 7q21-34 on the long arm of chromosome 7 (Wainwright et al., 1985) and this was soon followed by identification of the gene sequence (Rommens et al., 1989; Riordan et al., 1989, Kerem et al., 1989). The gene encodes a 1480 amino acid protein, which has been named the cystic fibrosis transmembrane conductance regulator or, for short, CFTR (NPG)."
The diagram below provides a visual of the above description (007 gif):
CFTR is a protein that is found in various cell types, including lung epithelium, submucosal glands, pancreas, liver, sweat ducts and reproductive tract. It comprises two membrane-spanning domains and two nucleotide-binding domains separated by a regulatory R. domain. The two membrane-spanning domains form a low-conductance chloride channel pore (figure 2). This is regulated by the binding…
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