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Running head: XERODERMA PIGMENTOSUM 1

Xeroderma Pigmentosum

Oscar Garcia

Introduction to Special Education 203

Research Paper

Wednesday, October 14, 2015


XERODERMA PIGMENTOSUM 2

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

Pigmentosum has created new observational studies, medical documentation, funding

opportunities, and a new way of life.

Xeroderma Pigmentosum is defined as a group of rare skin disorders characterized by

extreme sensitivity to sunlight (photosensitivity), with possible ocular and neurologic

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

subgroups of XP differentiate between having no neurological abnormalities or having

abnormalities ranging from mild to severe. For example, patients who have XPB suffer with a

mild neurological abnormality. Neurological abnormalities are things such as deafness,

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

ultraviolet rays, it is also broken down into different subgroups.

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

to the document Xeroderma Pigmentosum (Bosworth, 2010), there is currently no treatment

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

having a range of mild to severe neurological abnormalities. People with Xeroderma

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

Xeroderma Pigmentosum to be fascinating. It was sometimes tough to find specific details on

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

from the list, since I love learning new things.


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References

Last Name, F. M. (Bosworth, M. Q. (2010). Xeroderma Pigmentosum. In L. J. Fundukian (Ed.),

The Gale Encyclopedia of Genetic Disorders (3rd ed., Vol. 2, pp. 1602-1606). Detroit:

Gale. Retrieved from

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Hawkins, D. M., Eide, M. J., & Lim, H. W. (2012). Perception of xeroderma pigmentosum

support group members of xeroderma pigmentosum lifestyle impact. Photodermatology,

Photoimmunology & Photomedicine, 28(6), 338-339.

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?

accountid=27953

Recordonline.com. (2010, Jul 16). Camp Sundown Xeroderma Pigmentosum [Video File].

Retrieved from https://www.youtube.com/watch?v=WtLtByN1mQA

Tamhankar, P. M., Iyer, S. V., Ravindran, S., Gupta, N., Kabra, M., Nayak, C., & ... Khopkar, U.

(2015). Clinical profile and mutation analysis of xeroderma pigmentosum in Indian

patients. Indian Journal Of Dermatology, Venereology & Leprology, 81(1), 16-22.

doi:10.4103/0378-6323.148559

Tucker, D. M. (2013). Xeroderma Pigmentosum. In E. Fletcher-Janzen, K. Vannest & C.

Reynolds (Eds.), Encyclopedia of special education: A reference for the education of


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children, adolescents, and adults with disabilities and other exceptional individuals.

Hoboken, NJ: Wiley. Retrieved from

http://ezproxy.library.csn.edu/login?url=http://search.credoreference.com/content/entry/w

ileyse/xeroderma_pigmentosum/0

Williams, M. (1997, May 14). A family turns night into day for a child with a rare skin disease.

New York Times Retrieved from

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Xeroderma Pigmentosum. (2010). In J. A. Knight (Ed.), Salem Health (Vol. 3, pp. 1253-1254).

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