Angel Alverio

Down Syndrome-Trisomy 21

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Trisomy 21, otherwise known as Down Syndrome, is a disease that many are familiar with. More importantly, this disease has become more commonly seen throughout the nation in the past century or so. Despite the fact that this disease is well known, it is actually one that many people know less about. What people mostly know is that it is a genetic disorder; however, they are ignorant to the actual cause of this disease or even what the scientific name for this disease is. Down syndrome is a disease that has been researched for several years and has impacted culture immensely. Even though there are plenty of scientists who are well endowed with information on this genetic disorder, informing others of this disease could only prove beneficial. Specifically, informing about the actual cause and symptoms of the disease, validating and/or negating any myths, and informing on any treatments or cures of this disease will not only help make others more aware of the disease, but possibly can lead to a better understanding of individuals who suffer with this disease. In definition, a trisomy is when there are three copies of a chromosome rather than the regular two (Frey, R., Sharp, K., & Longe, J. 2011.). The reason why the scientific name for Down Syndrome is Trisomy 21 is because those who suffer with this disease have an extra number 21 chromosome (Frey, R., Sharp, K., & Longe, J. 2011.). Since they all have this in common, they all share very similar physical traits. The more apparent traits that others associate with those who have Down Syndrome are slanted eyes and a protruding tongue. Even though these are somewhat defining characteristics of the disease, there are more characteristics that many people are unaware of. For example, a broad short skull, broad hands with short fingers, small ears, a small mouth, a flattened nasal bridge, and varied degrees of altered (dysmorphic)

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Down Syndrome-Trisomy 21

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body features are all physical characteristics of Down Syndrome (Gale, 2011). There are also various medical conditions that are commonly seen in those who suffer with this disease. Heart disease (affecting 30-50% of patients), intestinal malformation (10-20%), and visual or hearing impairment (50%) are mere examples of all of the conditions that have a higher risk of showing up in the life of those who have Down Syndrome (Gale, 2011). Most cases dealing with Down Syndrome are all similar to each other in that the physical characteristics are very apparent. However, there is one circumstance that only occurs in 1-2% of cases of Trisomy 21 where the physical characteristics are not so apparent (Frey, R., Sharp, K., & Longe, J. 2011.). This type of case is called a mosaic (Frey, R., Sharp, K., & Longe, J. 2011.). This rare occasion happens when both the sperm and egg that join to form the child with Down Syndrome are completely normal (Frey, R., Sharp, K., & Longe, J. 2011.). In other words, each of the sex cells have 23 chromosomes to begin with. The problem that arises and causes the child to have Down Syndrome in the first place happens after the egg is fertilized, specifically during the phase where cells begin to divide rapidly (Frey, R., Sharp, K., & Longe, J. 2011.). Once the cell divides abnormally, it will create a line of cells with an extra number 21 chromosome (Frey, R., Sharp, K., & Longe, J. 2011.). The child will end up having two types of cells: those with 46 chromosomes (the normal number) and those with 47 chromosomes (the cells affected by Down syndrome) (Frey, R., Sharp, K., & Longe, J. 2011.). It is for this reason that scientists believe that the physical characteristics of these patients are not as apparent. Since only a certain percentage of their cells are affected by the disorder, only certain physical

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Down Syndrome-Trisomy 21

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characteristics will be present, and the ones that do appear are not as apparent as those of people whose cells all have 47 chromosomes. Along with the previously listed physical characteristics, there are also emotional and mental characteristics that are shared among those who suffer with Down Syndrome. Impulsive behavior and poor judgment are just two of the many other emotional symptoms that mirror the disease. Young children with this disease often tend to feel frustrated and angry because they are unable to get their point across. Many people believe that the only characteristics that come along with Down Syndrome are merely physical. This is a prime example of how Americans have very little knowledge when it comes to this disease. Another association that comes along with Down Syndrome is mental retardation. Although it is a scientifically proven fact that most people who suffer from this genetic disorder are mentally retarded, there are some people who are still capable of many things that a normal person would be capable of doing. In fact, there are even some people with Down Syndrome that, because of their disorder, are more artistic and capable of doing certain things that not many normal people are capable of. Chris Burke is a prime example. Burke is the star of the national television series Life Goes On (Ketcham, D. 2011). He also suffers from Down Syndrome (Ketcham, D. 2011). Even though he has this disorder, he is still capable of becoming a very famous actor and even manages to become the star of a famous sitcom. Burke went back to his hometown in 1990 to give a speech on the joys of working to his peers (Ketcham, D. 2011). His audience was a group of people who worked in a program called McJobs (Ketcham, D. 2011). This program was affiliated with McDonalds and helped employ others who also had Down

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Down Syndrome-Trisomy 21

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Syndrome or any other disability (Ketcham, D. 2011). The fact that Burke is capable of conducting an entire speech to a relatively large crowd of people who seem to look up to him as a role model is already outstanding in itself. The fact that he can do this is already challenging the stereotype of those who suffer from Trisomy 21. In his speech, the 24 year old actor does not take a long time to deliver his message. He merely wanted to let his fellow peers know that anything is possible, despite the fact that they were all handicapped one way or another. Chris Burkes story serves as an example of how many people are incorrect when they say that all people with Down Syndrome are mentally retarded. It is these kinds of stereotypes that prevent people from being fully capable of understanding how those who suffer with this disease manage. Since most people are told that those with Down Syndrome are mentally retarded, this statement is generally known throughout the population. It is something that people seem to think about without having to second guess it. These people who are misinformed are those who need to be told Chris Burkes story. If his story could become a little more publicly known, then many positive things can happen. People would discover that there are people out there who are successful despite the fact that they suffer from Down Syndrome and that some of these people may very well be more artistically talented than most people. Since this disease is so well known, many scientists have dedicated several years of their life for the sole purpose of trying to find a cure. Unfortunately, there has yet to be a cure discovered for Down Syndrome (Frey, R., Sharp, K., & Longe, J. 2011). Even though there has not been a scientist that has been able to find a cure for this disease, there have been a few cures that were once thought to have the ability to actually cure Down Syndrome (Frey, R., Sharp, K.,

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Down Syndrome-Trisomy 21

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& Longe, J. 2011). A drug called piracetam received a lot of attention at one point in time because it was thought to have the ability to cure down syndrome (Frey, R., Sharp, K., & Longe, J. 2011). This drug, which was marketed overseas at places such as Japan and Europe, was known as a smart drug (Frey, R., Sharp, K., & Longe, J. 2011). The drug was manufactured in the hopes of increasing the cognitive abilities of those who take it (Frey, R., Sharp, K., & Longe, J. 2011). This drug was also sold to skiers and mountain climbers to help enhance their focus since that was of vital importance to their hobby (Frey, R., Sharp, K., & Longe, J. 2011). As of 2007, there has been no evidence that says that this drug helps those that suffer with Down Syndrome focus or be cured (Frey, R., Sharp, K., & Longe, J. 2011). This drug is the only recorded drug in history that was ever thought to have proved beneficial to those with the disorder. From this information, it is known that there is still no cure for Down Syndrome, but scientists have still been trying their hardest to try to come up with a cure. Even though there are not any known cures for this disorder, there are, however, some things that people may do to help alleviate other complications that come with Down Syndrome. As previously stated, Trisomy 21 has several health complications that come along with it. For example, a lot of those that suffer from it experience a lot of problems with heart disease sometime in their life. One way to ensure that this does not cause a lot of stress to the patient is to have surgery. Most of the heart disease complications that come with Down Syndrome have to do with abnormal openings in the chambers that separate the heart (Frey, R., Sharp, K., & Longe, J. 2011). There are corrective surgeries available that can help this type of complication.

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Down Syndrome-Trisomy 21

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In conclusion, Down Syndrome has proved to be a disorder that many people are unaware of, making it a very dangerous disorder. If it were not for the generally known facts that are taught to people, then maybe the next generation of people can be more aware of this disorder.

Angel Alverio

Down Syndrome-Trisomy 21 Works Cited

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"Down Syndrome." World of Genetics. Gale, 2010. Gale Science In Context. Web. 9 Nov. 2011. Frey, Rebecca J., PhD, Jacqueline L. Longe, and Sharp, Kim A., M.Ln. "Down syndrome." The Gale Encyclopedia of Medicine. Detroit: Gale, 2007. Gale Science In Context. Web. 9 Nov. 2011. Ketcham, Diane. "LONG ISLAND JOURNAL." New York Times 17 June 1990. Gale Science In Context. Web. 10 Nov. 2011.