The Meaning of Fatal Familia Insomnia - Essay Example

Human Physiology Introduction The corpus of human physiology encompasses the physical as well as the biophysical facets of the normal functionality of the body of human beings and other animals. The study of human physiology majorly focuses on the functionality of the human body organs and other systems such as nerve systems, digestions system and the cells that make up these organs. There are myriad pathogens that may occur inform of viruses, bacteria and parasites or even conditions that may affect the normal physiological conditions hence affecting the normal behavior/health of human beings. This discussion will focus on one of these diseases, the Fatal Familia Insomnia which affects the normal functionality of human well-being. The Meaning of Fatal Familia Insomnia The Fatal Familia Insomnia is a generic neurological abnormality that causes extreme conditions of sleep loss (An abnormal facet also known as Insomnia). A research conducted in the year 1986 showed two people who were affected by untreatable sleep loss conditions/ insomnia, a condition that was classified as a neurological disorder. The research also indicated that this abnormal condition affects the middle age of approximately fifty years and above. Causes of Fatal Familia Insomnia The Fatal Familia Insomnia can be caused by prion also referred as the transmissible spongiform encephalopathy; it’s a unique progressive neurodegenerative abnormality that affects humans-beings and animals for instance like Mad Cow disease and the scrapie. Researchers have shown that the main cause of the Fatal Familia Insomnia is the mutation codon 178; it occurs within the prion gene characterized by the existence of the aspartic acid instead of the asparagine acid (www. serendip.byrnmawr.edu) Additionally, research has shown that this disease is autosomal dominant in the sense that it affects both men and women (Both Sexes); it also does not show condition of a carrier that is, a person is either affected or not. Fatal Familia Insomnia is also hereditary in nature; persons who inherit it suffer at a given point of time. Various phenotypes exhibited by prion have been identified by several researchers and the results have indicated that several forms of prion disease may affect human beings (www. serendip.byrnmawr.edu) Another type of the Prion disease that affects human is the Creutzfeldt-Jacob Disease; it may also be abbreviated as CJD. This disease is characterized by various clinical disorders such as rapidly continuous occurrence and lethal effects which may lead to loss of person’s life within a period of one year (www. serendip.byrnmawr.edu) Other Types of Creutzfeldt-Jacob Disease The other two Creudzfeldt-Jacob Disease include; Classic Creudzfeldt-Jacob Disease and the Variant Creudzfeldt Jacob Disease (vCJD): Research has indicated that the Classic Creutzfeldt-Jacob Disease was first recognized in the early 1920’s, it believed that the most extensive type of the Classic Creutzfeldt Jacob occurs intermittently as a result of the extemporaneous modification of the prion protein cells into anomalous form. On the other hand, the Variant Creudzfeldt Jacob Disease (vCJD) also affects an extensive number of the Europe Populace and has unique pathogenic characteristics from the Classic Creudtzfeldt-Jacob Disease. The VCJD affects an average age of twenty eight years as compared to the CCJD which has been indicated to be affecting an average age of Sixty Eight years mostly in Europe. Other differences that occur between the vCJD and the CCJD are that the symptoms of the vCJD are easily identifiable while the symptoms of the CCJD take longer periods time to be identified in patients (Medori et al. 667). Other researches have also indicated that another unique type of the prion disease, the Kuru was noted among some women in New Guinea who performed a ritual by eating the brain of their dead relative. It is a dimension of the prion disorder that results from the consumption of affected human brain and its effect are almost similar to the effects of the Creudzfeldt Jacob Disease. Despite the fact that the behavior of eating human brain was stopped in the early 1960’s, the effects resulting from eating infected brain have been confirmed in the contemporary world (Medori et al. 669). The symptoms of the kuru disease include; extreme pain on the arms and the legs which may cause problems in movement, severe challenges in co-coordinating various parts of the body, frequent headaches as well as challenges in swallowing that may eventually lead to starvation among the patients. The incubation period of this disease may take approximately ten to thirteen years and persons affected loss their lives within a period of one year after the first symptoms are recognized. Currently, there has not been any study indicating the treatment of the kuru disease however, patients are advised to seek immediate medical attention of the realizations of the symptoms discussed. Consequently, research has also indicated that these diseases are relatively related to the Fata Familia Insomnia disorder although a slight difference occurs in the manner in which their codons and the genes are affected in general human body (Medori et al. 446). Symptoms of the Fatal Familia Insomnia The effects of the Fatal Familia disease are directly ascribed to the abnormal functionality on the thalamus; a section of the brain which controls sleep in the body of humans through slowing down signal processes hence allowing the body to acquire the unconscious facet (A condition known as the sleep): The Fatal Familia Insomnia prevents this functionality through its mutated gene (Prusiner 365). The other symptom of the FFI is the extreme loss of weight, muscle twitches and in some cases stiffness; these are as a result of the interrupted blood pressure and other body fluids, deteriorated heart beat and the modified flow of hormones all of which result from the effects of lack of sleep. More research has also shown that lack of sleep may lead to instances of hallucination and in extreme conditions patients may undergo coma (Prusiner 367). Other effects of the Fatal Familia Insomnia have been found to be low quality reflexes, lack of the eye capacity to produce tears together with dementia, a condition characterized by extreme inability of the of the brain to function properly. Dementia is may also cause cases of memory loss, inability to communicate properly and the poor coordination of some or most of the body parts (Prusiner 371). Parts of the body that are affected by FFI The Fatal Familia Insomnia affects several parts of the body which may lead to a deteriorated functionality of the overall body capacity. The brain is the most affected body part that exhibits several health risks for instance: Lack of sleep, hallucination, conditions of panicking, poor coordination hence reduced rate of reaction and depression (www.world-of-lucid-dreaming.com) Secondly, the heart is also affected by its inability to regulate blood pressure hence leading to conditions of increased blood pressure thus making the patients vulnerable to heart attacks. Consequently, the functionality of the pancreas is also affected creating higher risks of diabetic attacks. In some occasions individuals may be subjected to problems of body weight such as obesity or weight losses (www.world-of-lucid-dreaming.com) The general poor functionality of the human body as a result of the deteriorated nervous system may also affect the immune system leading to conditions of poor immunity that increases the vulnerability to opportunistic diseases (www.world-of-lucid-dreaming.com). Stages of development of the Fatal Familia Insomnia The FFI is characterized by four main stages of development; the initial stage of development of the FFI undergoes slow progression and individuals may not be able to recognize its effects and may experience minor conditions of muscle twitches and spasms. The stages involved are as follows: Stage One This stage takes an approximate period of four months; patients begin to experience low ability to get sleep and may begin undergoing certain cognitive problems such as; panicking, paranoia as well as unique phobias (Ghetti 112). Stage Two During this stage, patients begin to undergo conditions of hallucination, profuse sweating and increased rates of panicking; it takes about five months (Ghetti 112). Stage Three It takes about three months and the persons affected begin experiencing severe symptoms such as total insomnia (Total lack of sleep), extreme weight loss, incontinence and begin to look appear older than their actual age (Ghetti 112). Stage Four This is the final stage and the conditions experienced are most extreme; it is the stage known as the Fatal Familia Insomnia and lasts for approximately six months. Persons affected suffer from complete conditions of dementia and lack of sleep. They also experience the inability to communicate (Mute) and eventually inevitably suddenly die (Ghetti 113). Methods in which the Fatal Familia Insomnia is detected Currently, the FFI cannot be treated; scientists have not been in a position to provide curative measures to the disease and other modes such as the use of sleeping pills have been identified as conditions that may worsen the rate at which the disease may affect patients. However, future scientific forecasts have shown that the remedy could be the provision of the right genes to the affected persons by insertion. This requires early detection of the disease among affected persons although this can only be detected past the early childhood development processes. Process of detection requires the application of modern medical technology such as: molecular hybridization and the use of DNA sequencing developed in a manner that they have the capacity to detect faulty genes (Christian 230). Treatment methods Currently there are no treatment methods for this disorder but, it is believed that extensive research and development of gene therapy which is expected to involve insertion of a correct gene to the body of an individual who has been identified as a victim in order to facilitate the modification of the affected gene into the correct forms. It is therefore imperative that individuals undergo early diagnosis through improved medical technologies which may also assist in isolating the corrective genes and identification of whether the genes are appropriate for transfer or not (Christian 233). Reasons why I chose the Topic This is a crucial dimension of health with very limited sources of information; it is also a rare disorder with no cure. Additionally, I was also interested with the fact that there is no substantial information discussing the future health problems that may result from FFI. Consequently, it is interesting to learn that prion exists in the form of proteins in the brain in a normal shape but they may negatively affect the functionality of the brain if their shapes are modified. To comprehend the functionality of the prion is very imperative for the determination of curative measures of FFI as well as dementia. Work Cited Turner, Rebecca. "Fatal Familial Insomnia: The FFI Sleep Disorder." Lucid Dreaming: Developing Conscious Dream Control and Exploration. N.p., n.d. Web. 16 Nov. 2012. . Prusiner, S.B. "Prions." PNAS 23.95.1998: 363-383. Print. Anna, M. The Worst Disease You Can Get: Fatal Familial Insomnia and the I-Function | Serendips Exchange. Serendip Home | Serendips Exchange. N.p., n.d. Web 12 Nov. 2012. . Medori, R. et al "A second kindred with mutation of prion protein gene at codon 178." Neurology 43.3.1991: 669-680. Print. Medori, R.et al "Fatal Familial Insomnia: A Prion Disease with a Mutation at Codon 178 of the Prion Protein Gene." Journal of New England Medicine 3.34.1992: 444-446. Print. Christian, G. Fatal familial insomnia: Inherited prion diseases, sleep, and the thalamus. New York: Raven Press, 1994. Print. Ghetti, B. Prion diseases. Philadelphia: W.B. Saunders Co, 2003. Print. Read More