Nicholas Ciardiello Nov. 7, 2013

Psychology 215

What is Down Syndrome?

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. I’ll first start by saying that my

parents have influenced me a tremendous amount but it’s my mother’s 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 didn’t 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.

I’m 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 don’t even know him. We’ve talked about it earlier in the semester and

yes, people still don’t 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 he’s being judged behind his back. My uncle has emotions and is a person just

like you or me. He’s 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.

I’m 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. I’ve learned this by spending a countless amount of hours at my grandmother’s 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, it’s a terrible feeling. It’s

not terrible because of how it makes me feel but how I think my uncle feels about people looking

at him, he’s constantly under watch. I’ve 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, he’s the funniest man I’ve ever had the pleasure of knowing and he’s as

sharp as a tack despite being handicapped. He’s taught me that you can’t please everybody and

can’t take people judging you to heart, you can overcome it.

I’ve learned valuable life lessons from Matthew

and he doesn’t even realize it that’s the best part about him. You can’t enter my grandmother’s

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 that’s the type of man I want to be. My

uncle doesn’t care about the holidays for the presents; he truly just wants the family to be

together. He doesn’t 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 don’t talk down to him because we understand how he feels about that. When it comes to the

ladies he’s a total flirt and it just gives him that much more charm. Just because he’s mentally

challenged doesn’t mean anything will stop him. If somebody says he can’t do something he’ll

prove them wrong in a heartbeat. If somebody makes fun of Matthew, he’ll hug you. He has a

heart of gold and I wish I could be half the man that he is.

As I’m getting older I’m 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 he’s been

through and it’s 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 he’s 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 wouldn’t be able to get

through life on a daily basis with such a positive attitude and vice versa. Matthew touches

everyone’s life that he comes in contact with and because of this I couldn’t 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 it’s most certainly

possible. I’ll always love my uncle and will never forget how much he’s 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 shouldn’t 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 cell’s hereditary

information, DNA, and controls the cell’s 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 wasn’t 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 syndrome’s 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 don’t 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 can’t 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 you’ll 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, I’ll

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 wouldn’t 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 they’ll 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 “I’m 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. Milo’s 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 we’ve 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 doesn’t say how far we’ve come I don’t 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 don’t 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 Milo’s story, the ones who still don’t want to be in

the presence of someone with Down syndrome we must stick up for those with the disorder. If

you find out you’re having a child with Down syndrome don’t give up, or have an abortion, they

aren’t 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.