Menacing Mucus - Disorder Essay Example
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I have elicited a few facts of the fatal genetic disorder of Cystic Fibrosis in my essay. The plight of a patient with his repeated episodes of respiratory distress and the therapies which help him are discussed to show the seriousness of this affliction. I have tried to assess whether a full-fledged all-out screening of citizens needs to be done and what good it could do. There are two views . I have tried to place the arguments on paper. Recent advances in the management of this fatal illness raises the hope that one day we may be able to improve the life and life span of patients with cystic fibrosis.
Is it necessary to conduct a screening of all people to know how many are carriers of cystic fibrosis ? This issue must be assessed considering the many factors related to it.. Is it so common? How seriously does it affect a person? What is the pathology behind it ? What aim would be served by the screening ? Would it be better to leave it to the course of nature?
Cystic fibrosis happens to be one of the most fatal of all genetic illnesses in Caucasians. It is a chronic progressive illness occurring once in 3600 live births. Genetically it is a heterogeneous autosomal recessive disorder affecting the mucus glands of the lungs, the digestive system, sweat glands and the reproductive system.(Knowles and Durie, 2002 ) Mutation in the cystic fibrosis transmembrane conductance regulator gene causes the pathology. F508del is a recognized mutation (Genetic basis of cystic fibrosis reviewed, NewsRx ). That this disease is genetic and recessive in nature does speak for the relevance of a screening. There is no other way of determining carriers in whom the illness is not expressed.
The prominent symptoms are mucoviscidosis or thick tenacious sputum and low- grade but persistent chronic respiratory infection with Pseudomonas or Staphylococcus Aureus organisms. Gasping for air due to the clogged airways and fatal respiratory failure indicate the severity. Frequent hospitalizations and continuous, advanced drug-based therapy keep the patients alive. The patient’s life span which previously used to end in childhood itself has been extended to adulthood to about 30 years of age with therapeutic advancements. A patient with this life-threatening illness is sick almost all the days of his life. The family would be placing him on their priority list. Their freedom would be curtailed. Somebody needs to watch over him frequently. It becomes essentially an illness that should never happen to anyone. Should we not prevent it at all costs? If massive screening is a method which reveals the carriers and warns them, let us go ahead.
We talk of the ‘menacing mucus’ as the main feature is thick, sticky mucus that blocks the lungs and causes fatal infections. It could also hinder the pancreas and its natural enzymes from digesting, metabolising and absorbing food.(What is Cystic Fibrosis, Cystic Fibrosis foundation ).
Treatment merely eases the symptom of difficulty in breathing. No cure is effected. However it delays the progress of the illness. Improved antibiotic therapy, clearance of secretions and balanced nutrition have increased the survival age. Collecting patients at centers has ensured that timely expert care reaches the needy.
The ‘flutter’device helps clear clogged airways. Dnase, a natural enzyme, provided as an aerosol, breaks down the DNA which causes the tenacity of the mucus. An aerosol antibiotic Tobramycin, which has replaced the large intravenous antibiotic doses, eliminates the Pseudomonas organisms which cause a chronic infection . Ibuprofen, an anti-inflammatory, is used to preserve lung function. Pancreatic enzymes are used judiciously. ( What is Cystic fibrosis, HealingWell.com )
All these new techniques have still only improved the status of illness to a small extent and not produced any dramatic change. Should advanced therapy cure each episode and prevent chronicity, this illness would no more be fatal. Are we any closer to this end? Whatever has changed, the patient still suffers. The argument for reducing the incidence still stands.
If one parent is a carrier, there is 50% chance in the children becoming a carrier. If both parents are carriers, there is a 25% chance in the children being afflicted, 50 % chance of being carriers and 25% of not being affected at all. 1 in 30 Americans stand the possibility of being a symptomless carrier. The chances for Caucasians is 1 in 29 and lesser in other communities. Results from the screening tests using saliva or blood prepare carriers for the chances of having a sick baby. It would do well to know beforehand rather than worrying after the child is conceived or born. If test results for parents were positive, an in-utero test may be done for the baby. Parents can strengthen themselves emotionally for the possible distressing condition in their child if it is fated to be ill. The American College for Obstetricians and Gynecologists recommends the performance of the screening test for all parents ( Carrier Screening for Cystic Fibrosis, March of Dimes Foundation ).
The diagnosis is made by an easily done sweat chloride test. A value of 60mmol/liter is diagnostic. Decreased permeability of the apical epithelial membrane to chloride ions (Knowles and Durie, 2002) leads to the increased value of sweat chloride. The immunoreactive trypsinogen blood test is done in newborns (of carrier parents) who do not have enough sweat . A positive result has to be cross-checked however with the sweat chloride test ( Cystic Fibrosis , Human Genome Project Information Web site ).
Studies have shown that a lesser incidence of babies born with cystic fibrosis by 50 % has been reported from the New England Newborn Screening Programme at Massachusetts where they compared 2 four-year periods, before and after screening was started in 2002. Adults were also being screened from 2002. Only 2 newborns had the deltaF508 mutation type of severe illness. The reduction in incidence observed had probably been the result of increased awareness of carriers who decided not to have ill babies. They probably resorted to termination of pregnancies or chose not to conceive or used a donor egg or sperm or had a pre-implantation genetic diagnosis ( Mark Shelton, 2008 ).
Other studies screened one parent and if negative, the other was not screened. This saved the counselling expenditure for couples if only one was affected. This technique had a disadvantage : when the unscreened parent did not know if he was affected, he could not warn his relatives. The relaying of information that could have produced an enhanced success rate and cost-effectiveness of the programme was missing. Some others thought that an international code of ethics was necessary before embarking on such screening ventures to prevent the ‘Pandora box’ effect .( W. Henn, April 1999)
Recent studies have put forth exciting prospects that could make a great difference in the lives of cystic fibrosis patients. Gene therapy is being investigated for the purpose of engineering the mutated gene. Studies are being conducted on cotton rats.
Amiloride aerosol has been found to slow the progression of the disease by reducing the elasticity and viscosity of the sputum but it has to be administered as a nebuliser 4 times a day. It greatly improves the quality of life.
Alpha 1 antitrypsin counters the large colonisation of bacteria in cystic fibrosis. It releases a large amount of elastase which is deleterious to the host tissue and immunoglobulins. The immunoglobulins are of utmost necessity for facing infections. The harm is reduced when antitrypsin is used after controlling the infection with effective antibiotics initially.
Dietary management has undergone a revolution. Enteric-coated pancreatic microspheres may be consumed for better digestion of normal or high fat diet in cystic fibrosis of the pancreas. Preparations are Creon 25000, Nutrizyme 22 and Pancrease HL. These also significantly improve the quality of life. (Dinwiddie and Crawford, 1993)
The genetic disposition caused by mutation deltaF508 and the frequency in occurrence strongly advocate the screening of parents who could be carriers. It would serve as a warning to the parents of the possibility of giving rise to afflicted offspring They would become alert to the fact that their relatives could be carriers too and pass on the message.
However there is another school of thought which is against the massive screening of all people. They say that information would unnecessarily be unearthed and there could be pandemonium. Moreover there always turns up fresh genetic evidence which could just wash away all that was believed and done previously. They probably believe that spending money on the possibility of advancements in treatment would be more useful in handling the illness rather than preventing or lowering its incidence by screening.
1. Knowles and Durie, “What is cystic fibrosis”, August 8,2002 9/3/08 New England Journal of Medicine No.6 Vol 347, 439-442. http://www.medical-journals.com/real28.htm
2. “Genetic basis of cystic fibrosis reviewed”, 22/9/03 9/3/08
3. “What is Cystic Fibrosis”, 6/5/07 9/3/08 http://www.cff.org/AboutCF/
Cystic Fibrosis foundation
4. “What is Cystic fibrosis”, 9/3/08 http://www.healingwell.com/library/cysticfibrosis/info1.asp HealingWell.com
5. “Carrier screening for cystic fibrosis” March 2006, 9/3/08 http://www.marchofdimes.com/pnhec/159_525.asp, March of Dimes Foundation.
6. Cystic Fibrosis 27/11/2002, 9/3/08
Human Genome Project Information Web site
7. Mark Shelton, University of Massachusetts, “Decline in cystic fibrosis since introduction of prenatal screening”, 28/2/08, 9/3/08, http://www.medicalnewstoday.com/articles/98904.php Medilexicon International Ltd
8. W. Henn, “Genetic Screening with the DNA chip: a new Pandora’s box?”, Journal of Medical Ethics, Vol. 25, Issue 2, pages 200-203, April 1999 http://jme.bmj.com/cgi/content/abstract/25/2/200 , BMJ Publishing Group Ltd. and Institute if Medical Ethics
9. Rinwiddie and Crawford, “Recent advances in cystic fibrosis research”, 9/3/08 Journal of the Royal Society of Medicine 1993, Vol 86, Supplement 20, Pages 7-10 http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1293797, Royal Society of Medicine Press.