Leah Gaus

Mr. Ring
Psychology
9/21/2015
The Extra Chromosome: A Weight That Lifts
As we grew up and began to recognize the ever-changing world around us, many of our
parents told us we were special, which was simply a code word for being capable of leaving a
distinct footprint in history. That statement proves true without regard for gender, race,
orientation, mindset, or disorder. However, many have their abilities doubted and placated due to
these categories, or what sets them apart from the crowd; those with Down syndrome are subject
to this discrimination on a daily basis, despite the fact that they are human beings capable of
greatness. We all have our challenges, and theirs happens to be an extra chromosome - a
challenge that is tough to overcome but writes an inspiring story.
In a typical child, the nucleus of each cell has 23 pairs of chromosomes, half of which are
inherited from each parent. In the case of a child with Down syndrome, an individual has a full
or partial copy of chromosome 21. This additional chromosome alters the course of
development and causes the characteristics associated with [the] syndrome, such as low
muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center
of the palm (What Is Down Syndrome?). However, not every child with Down syndrome has
all of these characteristics.
Down syndrome is the most common genetic condition, with one child in every 691
babies in the United States having the syndrome. This ratio converts to approximately 6,000
babies being born with Down syndrome every year in the United States, and approximately

400,000 Americans overall. The name was given to the syndrome by John Langdon Down, the
English physician who first published an accurate description of a person with Down syndrome.
It was through the scholarly work published in 1866 that the condition became a distinct and
separate entity as opposed to a list of characteristics (What Is Down Syndrome?). Another
prominent figure in the research of Down syndrome, the French physician Jrme Lejeune,
discovered that it was a chromosomal condition in 1959. Great advances in Down syndrome
research became possible in 2000, when an international team of scientists successfully classified
each of the approximately 329 genes on chromosome 21.
Contrary to popular belief, Down syndrome isnt as simple as one diagnosis - there are
three types: trisomy 21 (nondisjunction), translocation, and mosaicism. The most common type,
trisomy 21 or nondisjunction, occurs when there are three copies of chromosome 21 instead of
the usual two. In this case, at some point before or during conception, a pair of 21st
chromosomes fails to separate, resulting in the replication of this extra chromosome in every cell
of the body. Trisomy 21 accounts for approximately 95% of Down syndrome cases. The least
common type, mosaicism, occurs when there is a mixture of two types of cells - some with the
usual 46 chromosomes and some with 47, the extra chromosome being the 21st. In translocation,
the total number of chromosomes in the cells remains 46, but an extra full or partial chromosome
21 attaches to another chromosome, usually chromosome 14. Translocation accounts for
approximately 4% of Down syndrome cases.
Although every case of Down syndrome results in an extra full or partial chromosome 21,
the cause of this extra chromosome has not been determined. The extra chromosome can come
from either the mother or the father, but approximately 5% of the cases have been tracked to the
father. The likelihood of having a child with the syndrome occurs across races and economic

levels, but an older woman is more likely to have a child with Down syndrome. Also, although
all three types are genetic conditions, only 1% of all cases have a hereditary component.
There are two methods of diagnosing Down syndrome: prenatally and at birth. With
prenatal diagnosing, two categories of tests can be performed - screening tests, which provide a
probability of whether or not the child has the syndrome, and diagnostic tests, which provide a
definitive diagnosis. Many screening tests involve an ultrasound and a blood test; combined with
the womans age, these can be used to identify the likelihood of her having a child with Down
syndrome. Advanced prenatal screens can detect chromosomal material from the fetus that is
circulating in the maternal blood, enabling a high accuracy rate without an invasive procedure
(What Is Down Syndrome?). As for diagnostic procedures, chorionic villus sampling (CVS)
and amniocentesis are options available to the mother. Although accompanied by a 1% risk of
causing a miscarriage, these methods are nearly 100% accurate in diagnosing the syndrome. If
one chooses not to use these methods to prenatally diagnose, Down syndrome can be identified
at birth through certain physical traits; however, because these traits may be present in children
without the syndrome, a karyotype is required for diagnosis. A blood sample is drawn from the
baby, where upon the chromosomes are photographed and categorized by size, number, and
shape. Through careful examination of the karyotype, Down syndrome can be diagnosed. When I
was born, I had a single transverse palmar crease on my right hand, a sign of Down syndrome;
my parents called everyone in our family and frantically searched their hands, looking for the
same deep-set crease across the palm. They denied the hundreds of tests the doctors wanted to
put me through in order to rule out Down syndrome, eventually finding the same mark on my
grandfathers right hand.

Many children with Down syndrome have medical issues within the first two years of
their lives, and many of these can be rectified or treated; such issues include the following:
heart defects, gastrointestinal problems, upper respiratory illnesses, thyroid problems, ear
infections/fluid in the middle ear that may affect hearing, and a condition called subluxation of
the cervical spine (Medical Concerns). As one may expect, children with Down syndrome
have higher levels of hospitalization in their early years than those without disabilities. Subtle
details that may seem normal or expected in a child without Down syndrome, such as a child
ignoring what someone is saying or being lethargic, may indicate a serious problem in a child
with Down syndrome. It is extremely important for parents to be informed of the increased risk
of illness and the symptoms of common problems for children with the syndrome, like thyroid
problems or ear blockages.
Most children with Down syndrome receive some combination of therapy, ranging from
physical to occupational to speech/language therapy. Like other aspects of their childs life, it is
important for parents to be involved with their childs therapy in order to understand the
therapists work and reinforce what is being taught outside of the office. Also, every state is
required to offer therapy from birth for children with Down syndrome under the Infant-Toddler
Program under the federal special education law, or Part C of the Individuals with Disabilities
Education Act (IDEA).
Through several nation-wide studies, it was determined that families with a Down
syndrome child have lower divorce rates than those of children without disabilities. Also, 97% of
parents felt proud of their child with Down syndrome, and 79% believed that their outlook on
life was actually better because of their son or daughter (Family Dynamics). Similarly,
parents believed that their childs contribution to their family was positive and had love and pride

in their son or daughter, regardless of medical challenges. Although studies have shown that
parents of children with Down syndrome experience more stress than those without, the
overwhelming majority of these parents express positive patterns of joy and many rewards
(Family Dynamics). A prime example of this is the story of Genevieve Shaw Brown and her
child, Will; in an article entitled A Year of Grief and Joy posted on the official website for the
Down Syndrome Association of Greater Cincinnati, Brown describes the fear and despair she
had upon discovering that her fifteen-week-old child had Down syndrome, and then the immense
love she continues to hold for him. On what she didnt know at the time to be World Down
Syndrome Awareness Day, or March 21st, Genevieve went to see her doctor to gather more
information on what else was wrong with [her] baby (Brown). Three weeks earlier and two
days after a blood test, they got the call - her husband made a sound [she has] never heard him
make before or since - something between a gasp and a bark (Brown). There was no immediate
agreement upon what to do or how to proceed. Information needed to be gathered and tears
needed to be shed. Genevieve describes a time when she wasnt sure if she could be his mom,
and was very scared to do so. However, after long phone calls and countless nights without
sleep, she decided that there was nothing in the world that could change [her] love for him
(Brown).
Typically, when a child with a disability such as Down syndrome is born, the parents
often feel overwhelming grief and anger. They feel confronted with tough decisions, and more
than anything else, shock. Oftentimes, blame is misplaced on the other person and one may feel
resentful, especially if one has to attend to the majority of the childs needs, such as medical
appointments. Communication is extremely important in relationships between parents of a
Down syndrome child, as well as time set aside to work on paying attention to the others needs.

As for siblings, studies have shown that there is less unkindness and more positive
interactions when a person has a sibling with Down syndrome than those without. In a national
study, the majority of siblings felt pride in their brother or sister with Down syndrome, and 91%
of individuals 12 years or older felt good about their relationship. It is extremely important to
set well-defined expectations and a clear structure and family routines, as well as to make sure
a child with Down syndrome knows when he or she has behaved well (Family Dynamics).
Siblings play an extremely important role in teaching their brother or sister with Down
syndrome, seeing as younger siblings typically follow the others lead, especially those with
disabilities.
Despite their extra chromosome, those with Down syndrome are capable of impacting the
world around them, just like anyone with 46 chromosomes. Madeline Stuart, the first
professional adult model in the world with Down syndrome, is a prime example. At eighteen
years old, Stuart hails from Brisbane, Australia. After struggling with weight loss like many
others with Down syndrome, she decided to get healthy last year and chase her dreams of
modeling. As her mother, Roseanne Stuart, explains on Madelines website, Stuart was at a
fashion parade last year and declared herself a model; after nine months of healthy eating and
dancing with the troupe she joined, her mother scheduled a fashion shoot. Unexpectedly, Stuart
was a natural - her mother declares the photos stunning (Home). After discussing the
possibility of sharing the photos on the internet with other parents of children with Down
syndrome, Stuarts mother decided the feedback was too phenomenal to not do so. Immediately,
she created a Facebook profile and the photos, as well as Stuarts message, went viral. She
inspired children and adults all over the world to chase their dreams and believe in their own
abilities, especially those with Down syndrome.

Since then, Stuart has walked in New York for autoimmune awareness, become the face
of a cosmetic company called Glossigirl, and only a few days ago, has walked at New York
Fashion Week. She is the face of EverMaya, a socially conscious home design and fashion
company whose products are made in Guatamala. One of their bags, named The Madeline,
was inspired by the model; part of the proceeds will be donated to the National Down Syndrome
Society. Most recently, she appeared in the EverMaya Fashion Show at Midtown Athletic Club in
Rochester. Today, her mother continues to manage her jam-packed schedule and help Stuart keep
up with her more than a half-million social media followers.
Like any other normal human being, children and adults with Down syndrome can
achieve remarkable things. However, there is no such thing as normal - there is simply what is
common and widely accepted; sadly, Down syndrome fits into the first category and the opposite
of the latter. Although the syndrome is mocked by thousands on a daily basis, there are millions
of supporters, from those who participate in the annual Buddy Walk to those who help teach
children with Down syndrome in public schools. Persons with Down syndrome are no less than
any person without disabilities - in fact, they are enlightening and magnificent souls, as I witness
every day when those with disabilities enter the building. My immediate reaction, as it should be,
is not to laugh and point, but to smile. Their strength inspires me, and their happiness enlightens
me. I have an overpowering desire to want to get to know them, the incredible people that many
ridicule without reason.

Word Count: 2158

Works Cited
Brown, Genevieve Shaw. A Year of Grief and Joy. Down Syndrome Association of
Greater Cincinnati. Down Syndrome Association of Greater Cincinnati, 2014. Web. 19
Sept. 2015.
Family Dynamics. Brighter Tomorrows. Interdisciplinary Human Development
Institute of University of Kentucky, 2014. Web. 19 Sept. 2015.
Home. Madeline Stuart Modeling. Madeline Stuart Management Ltd., 2015. Web. 19
Sept. 2015.
Medical Concerns. Brighter Tomorrows. Interdisciplinary Human Development
Institute of University of Kentucky, 2014. Web. 19 Sept. 2015.
What Is Down Syndrome? National Down Syndrome Society. National Down
Syndrome Society, 2012. Web. 19 Sept. 2015.