Beruflich Dokumente
Kultur Dokumente
Xeroderma Pigmentosum
Oscar Garcia
Research Paper
Xeroderma Pigmentosum
Eleven year old Johnny made his way home from school on a hot sunny day. As he
scurried his way inside his house with a loud scream, his parents were shocked to see his face
covered with scorching blisters. His father immediately got the car ready and the two of them
rushed to the hospital. On the way to the hospital, Johnnys face started to freckle and burn with
just minimal exposure of the sun. He cried and pleaded as his father stomped on the accelerator
with a face of concern. Finally, they made it to the hospital where Johnny was diagnosed with
Xeroderma Pigmentosum. This is a disorder in the psychological view and seen as a disability in
the special education field where the person cannot come in contact with the sun. The disability
is also referred to as XP for short. It is not the most pleasant disability to acquire because of the
painful symptoms and risks a person faces in their daily life. The existence of Xeroderma
involvement. An inherited disease, it results from a defect in the genes involved in the repair of
DNA damage caused by ultraviolet light (Xeroderma Pigmentosum, 2010). In other words, the
slightest contact with sunlight can damage the persons skin cells and eyes. Statistics show that
the probability of getting XP in the United States and Europe is 1 in a million, while in Japan it is
1 in 22,000 (Xeroderma Pigmentosum, 2010). Based on the statistics, it is implied that XP must
have originated in Japan. However, Xeroderma Pigmentosum is also classified into DNA repair
gene subgroups from A to G, such as XPA, XPC, XPE, or XPG. An observational study on
Indian patients developed a clinical profile and analysis on the subgroups of Xeroderma
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Pigmentosum. The research done by Tamhankar, Iyer, Ravindran, Gupta, Kabra, Nayak, & ...
Khopkar (2015) gathers information from families all over India, and captures each of the
different types of XP in at least one family. From the results found in the patients, each of the
abnormalities ranging from mild to severe. For example, patients who have XPB suffer with a
dwarfism, and many more (Tucker, 2013). Even though Xeroderma Pigmentosum can cause
damage to the skin and eyes from exposure to the sun, since that is the most common source of
For a disorder like XP, the symptoms for a diagnosis can clearly be visible. For instance,
a minimal exposure of ultraviolet radiation can provoke acute sunburns, blisters, freckles,
increased or decreased pigment, birthmark-like spots, inflammation, dryness, and rough spots
(Bosworth, 2010). That is only the skin, but the eyes can also develop symptoms such as
irritation, redness, and swelling. If the person continues with these symptoms without doing
anything about them, then it will lead to a cancerous threat on both the skin and eyes. According
existing at the moment. Even more, there is no cure for XP. Although there are ways to avoid
ultraviolet radiation and prevent the person from damaging their DNA, measures to take are
wearing sunglasses, tightly woven-sleeved clothing, wide brim hats, sun-block, and protective
tinted window coverings on the house, in the car, and at school (Bosworth, 2010). It is also
recommended that the person only comes out of their house at night. In addition, they should
have regular checkups by a dermatologist every 3 months and an ophthalmologist once a year in
order to achieve their normal lifespan (Xeroderma Pigmentosum, 2010). Therefore, following
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these precautions can increase the chances of survival of a person with no neurological
abnormalities. However, due to it being associated with cancer, the life expectancy is decreased
at the age of 40 at most compared to the average lifespan of a person without XP.
Even though there is no cure for Xeroderma Pigmentosum, there are fundraisers being
conducted by families for research. According to the article, The Nation; Parents Seek Cure for
Daughters Shady World (2005, Mar 20), Hill states that the Mahar family has been raising up to
$1.5 million for research purposes ever since finding out that their own daughter, Katie, has been
diagnosed with XP at birth. On the other hand, their charitable ways do not stop there as they
have created a special camp specifically for children who cannot go near the sun. The Mahar
familys idea of Camp Sundown came upon them when they realized that protecting their
daughter from light was not enough. In addition to that, they began to sell baked goods outside of
Kmart for a year to raise $10,000 for research of a cure (Hill, 2005, Mar 20). Once they raised
that money, Katies mother decided to take the money to scientists who saw the fund as a stigma
quoting She had collected the research equivalent of lunch money. As they laughed at her face,
she decided to take action by joining the Xeroderma Pigmentosum Society to find a cure and
raise more money. For that reason, Camp Sundown was generated, which enabled other families
to bring their kids to this camp. This camp helped irradiate the spirits of their kids from feeling
isolation. Based on another article about the same family, it is stated that the Mahars hosted a
camp for up to 25 XP patients in a two week session (Williams, 1997, May 14). This camp is like
a safe haven for children who have this disability because they can interact with other children
and do many activities with their family while forgetting they ever had Xeroderma
Pigmentosum.
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The lifestyle of a person with Xeroderma Pigmentosum completely changes into darkness
and becomes one with the moon. Since these people live in the dark, they can find closure in
support groups, or they may feel as though they have been struck with a curse. As reported by
Hawkins, Eide, and Lim (2012), members with XP who were organized into a support group
either felt relieved from knowing more about their condition or felt dreaded because of the
limitations they had from daily activities due to the sun. It must feel lonely to have to live a life
in the dark while someone normal is going to sleep. However, not only do their lives change
alone, but the lives of their families change too. For example, families would engage in outdoor
activities after dark instead of daylight, do their shopping and errands after dark, and makes sure
the person with XP is covered up right to avoid UV radiation (Hawkins, Eide, & Lim, 2012).
Families making these modifications for their children can aid them to living a longer life. Those
with the disability must stay cautious even at night when going out to places. For instance, Katie
from the Mahar family is sensitive to halogen headlights from cars, so she must always wear
sunglasses when riding in the car (Williams, 1997, May 14). Fluorescent lights, which are
commonly seen at every store and fast-food place, also affect Katie. There are so many
restrictions and guidelines to live up to even at night because one slight mistake can be fatal.
At any rate, to be diagnosed with Xeroderma Pigmentosum, must be the most terrifying
experience. As the person with XP comes in contact with the sun, a growth of the DNA in their
eyes and skin cells can lead to cancer. Even more, there are many subgroups for XP with each
Pigmentosum who are not careful can become deaf, blind, or suffer from many other
neurological abnormalities. It is a rare skin disorder but unfortunately the symptoms are
noticeable enough to completely obliviate the life the person once had. They must now make a
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habit of becoming friends with the moon, use sunscreen frequently, wear protective clothing, and
reconstruct the house with tinted windows and incandescent light bulbs. Furthermore, the
research being done is receiving millions of dollars, but sadly no cure is being developed.
However, the Xeroderma Pigmentosum patients are not alone as they have support groups to
become more educated in the disability, but if that does not work, there is Camp Sundown where
they can escape their fears and live the night as if it were daytime. Finally, families are there to
be the altruistic figures they need, since their lives are measured by quantity and quality.
Xeroderma Pigmentosum was actually my second choice, since I had more knowledge on
Tourettes. However, I became more interested when I read the description that this disability
dealt with the avoidance of the sun. I always knew that there must be a condition where the
person cannot go near sunlight but never knew the name for it, and finally found it once I
searched up this choice on the list. This disability reminds me of vampires because they start to
boil as well when they come in contact with sunlight, so it makes me wonder if people in the past
who had XP were accused of being vampires. Moreover, I found the information about
this disability, since there are not as many cases of XP compared to autism. I would feel
depressed if I had XP, since it must be painful getting blisters not only on your skin but eyes too.
Their lifestyle also comes with so many restrictions. If I had a student with this disability, I
would go to their familys house and do some of the lessons with the student and family because
I know it is risky for them to go to school. Overall, I do not regret making this my first choice
References
The Gale Encyclopedia of Genetic Disorders (3rd ed., Vol. 2, pp. 1602-1606). Detroit:
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Hawkins, D. M., Eide, M. J., & Lim, H. W. (2012). Perception of xeroderma pigmentosum
doi:10.1111/j.1600-0781.2012.00693.x
Hill, M. (2005, Mar 20). The nation; parents seek cure for daughter's shady world; sunlight
poisons those with XP disorder, such as katie. couple raised $1.5 million for research and
started a camp for similarly afflicted kids. Los Angeles Times Retrieved from
http://ezproxy.library.csn.edu/login?url=http://search.proquest.com/docview/421978805?
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Recordonline.com. (2010, Jul 16). Camp Sundown Xeroderma Pigmentosum [Video File].
Tamhankar, P. M., Iyer, S. V., Ravindran, S., Gupta, N., Kabra, M., Nayak, C., & ... Khopkar, U.
doi:10.4103/0378-6323.148559
children, adolescents, and adults with disabilities and other exceptional individuals.
http://ezproxy.library.csn.edu/login?url=http://search.credoreference.com/content/entry/w
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Williams, M. (1997, May 14). A family turns night into day for a child with a rare skin disease.
http://ezproxy.library.csn.edu/login?url=http://search.proquest.com/docview/430778604?
accountid=27953
Xeroderma Pigmentosum. (2010). In J. A. Knight (Ed.), Salem Health (Vol. 3, pp. 1253-1254).
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