Nicholas Ciardiello Psychology 215 What is Down Syndrome?

Nov. 7, 2013

If a person is asked who has affected their life the most they might tell you their mother or father but for me the question is much deeper than that. Ill first start by saying that my parents have influenced me a tremendous amount but its my mothers older brother who has truly affected my life the most. I have had family members serve for this country, most of my family is on the police force but I still choose my uncle who has never had to live a life on his own as the most influential person to me. You may be wondering where I am going with this and how it relates to this Psychology course and now I will get to that. Why would I choose my uncle as the person who has influenced me the most? You see, my uncle Matthew was born with Down syndrome. When I was younger I didnt realize that my uncle was any different, he was more of a friend to me than an uncle and I never really understood why until I was told further on in my life about what he had. I quickly understood why my uncle was so childlike. My uncle is not a child though he is the most compassionate and loving man you could ever possibly meet. Just spending a day with him will make your heart melt and he makes you appreciate life every second that you are with him. Im proud to call my uncle, my uncle. This man has touched my life more than anyone can ever possibly imagine. All of his life Matthew has been teased, judged, and treated as a child by people that dont even know him. Weve talked about it earlier in the semester and yes, people still dont know how to react when it comes to a disabled individual. A lot of people have a warped judgment on what Down syndrome men and woman are like. People think that they are

slower than they actually are. My uncle understands if someone is making fun of him, teasing him or if hes being judged behind his back. My uncle has emotions and is a person just like you or me. Hes extremely smart, funny and even though he is labeled mentally challenged he deals with it every single day with a smile on his face. Saying that my uncle makes me appreciate life is honestly an understatement. I believe that Matthew has been shaping me into the man that I want to become. Im patient and compassionate because of him. Actually the reason I want to be a nurse is because I realized how much love I have for other people and how much I like taking care of them. Ive learned this by spending a countless amount of hours at my grandmothers house where my uncle has lived all of his life. To be related to somebody with Down syndrome is extremely tough. When you go somewhere with them and people stare, its a terrible feeling. Its not terrible because of how it makes me feel but how I think my uncle feels about people looking at him, hes constantly under watch. Ive asked my uncle time after time if it upsets him and he usually makes a joke or witty comment about how everyone is jealous of his good looks. This is why I love my uncle, hes the funniest man Ive ever had the pleasure of knowing and hes as sharp as a tack despite being handicapped. Hes taught me that you cant please everybody and cant take people judging you to heart, you can overcome it. Ive learned valuable life lessons from Matthew and he doesnt even realize it thats the best part about him. You cant enter my grandmothers house without a greeting from my uncle and over a thousand hugs and kisses. He immediately makes you feel at home whether he knows you or not and thats the type of man I want to be. My uncle doesnt care about the holidays for the presents; he truly just wants the family to be together. He doesnt dislike anybody regardless

of how they treat him or how they act and this is why he has affected my life in such a big way. In my family Matthew is treated as a person, we dont talk down to him because we understand how he feels about that. When it comes to the ladies hes a total flirt and it just gives him that much more charm. Just because hes mentally challenged doesnt mean anything will stop him. If somebody says he cant do something hell prove them wrong in a heartbeat. If somebody makes fun of Matthew, hell hug you. He has a heart of gold and I wish I could be half the man that he is. As Im getting older Im realizing that the time that I spend with my uncle is very precious and that I should appreciate every second I spend with him. He has given me this outlook on life, cherish everyone and everything. Nobody, including myself, knows what it feels like to be Matthew but I can certainly understand what hes been through and its not easy growing up with Down syndrome. My uncle has sudden outbursts of emotion at times but he has the adoration of my whole family and that is why hes able to conquer life as a fifty-three year old man with Down syndrome. I could also say my grandmother and late grandfather, who sadly passed away when I when I was a young boy have affected me a great deal. They gave birth to a child with Down syndrome and never lost hope in him, they taught him everything they know and put everything into their child. To this day my grandmother still puts everything into him and even though she is now an elderly lady, she has never stopped taking care of him. Matthew understands that she is getting older and has been giving his all and returns the care back to his mother. Without my grandmother my uncle wouldnt be able to get through life on a daily basis with such a positive attitude and vice versa. Matthew touches everyones life that he comes in contact with and because of this I couldnt have possibly chosen another topic to write this paper

about. It may be difficult to understand at first how a man with Down syndrome can influence a nineteen year old college student but its most certainly possible. Ill always love my uncle and will never forget how much hes changed my life for the better. Now comes the part of the paper that I actually looked forward to when it was assigned, researching this topic. When it comes to Down syndrome, many people are not well educated and seem to have various different opinions on the individuals suffering from the genetic disorder. As I stated earlier, this is a topic that I hold close to my heart and believe shouldnt be looked over. First, before I begin talking about this matter in more detail, what exactly is Down syndrome since all I discussed was my own personal experience with it? Well, in every cell there is nucleus which is the control center of a cell. The nucleus contains the cells hereditary information, DNA, and controls the cells growth and reproduction. The hereditary information is stored in genes which carry all the codes responsible for our inherited traits and is grouped along structures called chromosomes. The nucleus of each cell usually contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has an extra copy of chromosome 21. This additional chromosome changes the course of development and causes the characteristics associated with Down syndrome. For centuries, people with Down syndrome were mentioned in art, literature and science. However, it was not until the late nineteenth century, 1866, that an English physician by the name of John Langdon Down published a detailed description of a person with Down syndrome. Yes, surprisingly it dates way back to then. It was this publication that earned Down the recognition as the father of the syndrome. Down described the condition as a distinct and separate entity which differentiated him from the other people who described characteristics of the syndrome. While he was the first to describe some of the characteristics of people with the

genetic disorder, it wasnt until 1959 that the cause was known. The extra chromosome 21 was discovered by Dr. Jerome Lejeune. Lejeune, who was studying chromosomes at the time, discovered that an individual with Down syndromes cells contained 47 chromosomes instead of the normal 46. This was a groundbreaking discovery and because of technology developing we can further research the disorder. Many people dont know that there are different types of Down syndrome. These three types vary greatly. The first type of Down syndrome is named trisomy 21, which is what I was talking about in the previous paragraph. This type accounts for surprisingly 95% of Down syndrome cases. In trisomy 21, Down syndrome is usually caused by an error in cell division called nondisjunction. Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. The reason for this extra chromosome is because prior to conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. Another type of Down syndrome, which is also the rarest, that represents only 1% of cases is called mosaicism. Mosaicism occurs when nondisjunction, an error in cell division, of chromosome 21 takes place in one of the initial cell divisions after fertilization. When this occurs, there is a mixture of two types of cells some containing the usual 46 chromosomes and others containing 47. The cells that contain 47 chromosomes contain an extra chromosome 21. Research has shown that people with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types. However, this cant be proven. The third type of Down syndrome is translocation and represents about 4% of all cases. In translocation, part of chromosome 21 breaks off during cell division and attaches to another chromosome. This other chromosome is usually chromosome 14. The thing that makes this type

so interesting is that while the total number of chromosomes in the cells remains 46, the extra part of chromosome 21 causes the characteristics of Down syndrome. Something that I found very intriguing about Down syndrome that you might also find interesting is how frequently Down syndrome occurs in the United States. According to The National Down Syndrome Society, NDSS, one in every 691 babies in the United States is born with Down syndrome. This would make it one of the most common genetic conditions. The NDSS goes on to say that Approximately 400,000 Americans have it and about 6,000 babies with the disorder are born in the United States each year. Another interesting finding from the NDSS is that Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35 year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. This shows that the older you get the more likely it is that youll give birth to a child with this disorder. It might not be the best idea to have a child later on in life. When it comes to the characteristics of people with Down syndrome there are many unique ones that are common among and specific to people with the disorder. These characteristics can be divided into three categories: physical, medical, and cognitive says K. Cauldwell, in an article written for Yahoo! Contributor Network. First, Ill begin by talking about physical characteristics of Down syndrome. How do people with Down syndrome differ physically from normal people? Many characteristics that normal people have, people with the genetic disorder have also. However, it is often easy to distinguish in early stages by a parent or physician if their child or patient has Down syndrome. Although not every child with Down

syndrome will carry noticeable physical characteristics, in approximately 80% of all cases, a recognizable combination of these physical traits will be present in the child or adult with Down syndrome. Cauldwell then goes on to list a bunch of characteristics from a flattened appearance to the face to small ears. What you get out of all of the characteristics is that any of these physical characteristics can also be seen in people without Down syndrome. The most common physical features that differ between a person with Down syndrome and a person without it can include Hypotonia, or low muscle tone, increased flexibility, head being small for age which contains a flat facial profile, slightly flattened bridge of nose and a small nose. People with the genetic disorder also can have small ears, which are low-set on the head and may fold over a bit at the top, and small ear canals which can lead to bad hearing. If you have Down syndrome your eyes usually have an upward slant, your hands are usually small and wide, as well as your feet and you probably have a short stature. Most with Down syndrome will not have all of these conditions but if you have a few it usually means that you have the condition. The second category of characteristics of Down syndrome according to K. Cauldwell is medical characteristics. There are quite a few medical characteristics of people living with Down syndrome, some may be shared with normal people and other people living with Down syndrome might not even have them at all. If you identify the medical issues early enough, most people with the condition can live a long and healthy life. As of now the average life span of a person with Down syndrome is 55 to 60 years old, with many living even longer. The most serious of the medical characteristics associated with Down syndrome is cardiac problems. In the article it is stated that Approximately 40% of all children born with the condition have congenital heart defects, and many of them are serious in nature. This shows that many children

who are born with Down syndrome should start monitoring their health as soon as they are born or as soon as the condition is identified. Other medical characteristics a person with Down syndrome might experience include a weak immune system, underactive thyroid gland, hearing impairment and vision impairment. The weak immune system leads to individuals with a higher rate of infection, and respiratory problems. People with the disorder experience coughs, colds, and flu viruses more frequently. Because of the underactive thyroid gland, people with Down syndrome are usually overweight. The third category of characteristics of Down syndrome according to K. Cauldwell is cognitive characteristics. Most people with Down syndrome show issues of cognitive or developmental delay. These issues can range from barely noticeable to severe. Many people who have the disorder can still attend school with normal people and work full jobs in the community with little or no assistance. Some require more help and may need to attend special education classes in their school or attend a school for the developmentally delayed. These more severe forms of Down syndrome need assistance in the community and without it they wouldnt be able to function as well in the environment. One thing you may not know about people with Down syndrome is regardless of how extreme their Down syndrome may be, they are usually loving and affectionate. It is easy for people with this disorder to bond with others quickly and I know from first-hand experience that theyll do anything for anyone, even a stranger. While doing my research for this paper I came across a touching story from the NY Times that I had to include. The story was about a family who took their 5-year-old son, Milo, out to dinner. Milo has Down syndrome, and while the family was eating another family at a nearby table asked to be seated elsewhere. The waiter, Michal Garcia stated that he heard a man from the nearby table say Special needs children need to be special somewhere else. Garcia

told him Im not going to be able to serve you, sir. As the man was leaving the restaurant, Mr. Garcia asked How could you say that? How could you say that about a beautiful 5- year-old angel? This was a touching, feel-good story for many people and I could see why. Later on it was said that Mr. Garcia was the father of an 11-year-old girl with Down syndrome. This story speaks volumes, in a world with so many problems people still seem to judge and treat people with Down syndrome terribly. This type of story takes place entirely too often and it hits home to many people including myself. Mr. Garcia is a normal man, who has a heart of gold and more people should act as he did. He put his job on the line to stand for what he believes in and defended the poor boy with Down syndrome, Milo. Milos mother stated later on that Milo has friends both with and without Down syndrome. Even the writer stated that this detail stayed with him and expresses how far weve come. Children with Down syndrome are now progressing to the point that they have the right to go to school and are even able to make friends. A person with this disorder used to be institutionalized and saying they were treated horribly is an understatement. An interested thing that can be noted is that on the College of Staten Island grounds there used to be the Willowbrook State School. The Willowbrook State School was an institution for disabled children, including Down syndrome children, and was made famous by Geraldo Rivera in 1972. In an article from The Staten Island Advance it is said that Patients were kept in warehouse-like conditions and were force-fed milkshakes laced with a live hepatitis virus as part of state-sanctioned experiments. If that doesnt say how far weve come I dont even know what would. We are now to the point where children with Down syndrome can go to a regular school or a special school depending on the severity of their disorder. In conclusion, if you take one thing from my research paper dont let it be the differences

of characteristics between us normal people and those with Down syndrome, let it be how similar we really are and imagine what it is like to be in their shoes. We might have come a long way but because of the men like the man in Milos story, the ones who still dont want to be in the presence of someone with Down syndrome we must stick up for those with the disorder. If you find out youre having a child with Down syndrome dont give up, or have an abortion, they arent much different from you or me.

Works Cited Cauldwell, K. "Down Syndrome Information: Characteristics of Down Syndrome." Yahoo! Contributor Network. N.p., 18 July 2006. Web. 11 Nov.2013. "What Is Down Syndrome?" - National Down Syndrome Society. N.p., n.d. Web. 11 Nov .2013. Estreich, George. "A Child With Down Syndrome Keeps His Place at the Table." The New York Times. The New York Times, 26 Jan. 2013. Web. 11 Nov. 2013. "About Down Syndrome." About Down Syndrome. N.p., n.d. Web. 11 Nov.2013. Slepian, Stephanie. "Recalling the Horrors of Staten Island's Willowbrook State School." Staten Island Advance, 2 Apr. 2012. Web.11 Nov.2013.