Sunday, April 22, 2012

Bibliography

http://www.clinuvel.com/skin-conditions/rare-skin-conditions/xeroderma-pigmentosum-xp

How possible is it that a cure will be found?

There has not been a found cure for Xeroderma Pigmentosum due to the fact that it is almost nearly impossible for someone to stay away from the sun completely.

What are some organizations that can help a family cope with a child's disorder?

http://www.geneticalliance.org/organization/xeroderma-pigmentosum-family-support-group

http://www.xps.org/

http://www.xpfamilysupport.org/

What is everyday life like? What is the quality of life?

By being “allergic” to the sun, a lot of people with Xeroderma Pigmentosum miss out on a lot of activities. They do not get a chance to enjoy the beach without getting severely sunburned.

How can Xeroderma Pigmentosum be treated?

As of now, there is no found cure of Xeroderma Pigmentosum. The only “cure” for it is for people with Xeroderma Pigmentosum to stay away from sunlight.

What is the life expectancy of someone with Xeroderma Pigmentosum?

The life expectancy of someone with Xeroderma Pigmentosum all depends on when they were diagnosed. If someone is diagnosed at an early age, and protected from sunlight, then they will have a normal life span. But if someone is diagnosed later in life, there is a high chance that they have already begun to develop skin cancer and will not make it past their 20’s.

What are the physical symptoms of someone with Xeroderma Pigmentosum?

The skin of a Xeroderma Pigmentosum patient will be heavily freckled and scaly when is becomes exposed to sunlight. They would also create sensitivity in their eyes and begin to create small stages of skin cancer.

How is the disease diagnosed?

Xeroderma Pigmentosum is diagnosed by a person either showing excessively dry skin, cloudiness of the cornea and poor coordination or any of the other nervous, skin and eye symptoms.

What are the chances of a person with Xeroderma Pigmentosum passing it to their offspring(include possible scenarios)?

There is a very low chance that the offspring of a Xeroderma Pigmentosum will inherit it because it is a recessive homozygous disease and will most likely be overpowered by one of the mothers X chromosomes if the father has it. But if the mother has Xeroderma Pigmentosum, then there would most likely be a 50% that the child would inherit XP.

How prevalent is the disease in the population(include statistics)?

XP affects 1 in 250,000 people every year.
In the United Kingdom, there are about 100 cases every year.
There is a highr percentage of diagnosis in Japan and the Middle East.

If Xeroderma Pigmentosum is genetic--what are the possible genotypes of the parents? If the disease is a chromosomal abnormality, describe the adnormality

The genotypes of the parents could possibly be Xx,Xx or Xx,xx or xx,xx.

How does a person inherit Xeroderma Pigmentosum? Is it dominant or recessive? Is it genetic or chromosomal?

Xeroderma Pigmentosum is a recessive genetic disorder that is caused by the body not being able to properly get rid of extra UV rays which then leads to sensitivity to sunlight.

What is a Genetic Counselor-Qualifications, Education, Job Details

A Genetic Counselor is someone who is a licensed health professional that is trained to help families understand genetic order and to provide the emotional, mental and physical support the family may need.