Bibliography

Diwan, A. Hafeez. "Xeroderma Pigmentosum: Treatment & Medication." EMedicine. Web. 14 Mar. 2011. <http://emedicine.medscape.com/article/1119902-treatment>.

"Genetic Counseling." Oak Ridge National Laboratory. Web. 13 Mar. 2011. <http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genecounseling.shtml>.

"Xeroderma Pigmentosum - Genetic Information." Inherited Health. Web. 13 Mar. 2011. <http://www.inheritedhealth.com/info/condition.aspx?topic=400>.

"Xeroderma Pigmentosum - Genetics Home Reference." Genetics Home Reference - Your Guide to Understanding Genetic Conditions. 6 Mar. 2011. Web. 13 Mar. 2011. <http://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum>.

"Xeroderma Pigmentosum Definition - Medical Dictionary Definitions of Popular Medical Terms Easily Defined on MedTerms." MedicineNet. Web. 13 Mar. 2011. <http://www.medterms.com/script/main/art.asp?articlekey=10359>.

"Xeroderma Pigmentosum. DermNet NZ." DermNet NZ. Facts about Skin from New Zealand Dermatological Society. Web. 13 Mar. 2011. <http://www.dermnetnz.org/systemic/xeroderma-pigmentosum.html>.

Xeroderma Pigmentosum Society. Web. 14 Mar. 2011. <http://www.xps.org/>.

XP Family Support Group. Web. 14 Mar. 2011. <http://www.xpfamilysupport.org/>.

How possible is it that a cure will be found?

There is a chance that a cure will be found, but most likely not in the near future. Most treatment right now is aimed at just preventing skin cancer. Some experimental cures that are being worked on are repairing the UV damage after exposure by the injection of DNA repair enzymes into the skin. This had some success, but is still in the experimental stages. Also being developed is gene therapy, where they go in and place healthy genes where the defective genes are. This is very far away however, and still more in the theoretical stage than the developmental.

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

http://www.xpfamilysupport.org/

http://www.xps.org/

What limitations does the person have?

The only real limitation people with this disease have is that they must avoid sunlight if at all possible. Unfortunately, this most often leads to other limitations, such as not going to school because they would have to walk outside at some point, and not going anywhere where they would have to walk outside. Also, sometimes people with this disease have some mental retardation, which even worsens the separation from others.

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

Life for people with XP is hard. They must avoid the sun when at all possible. This often means staying at home during the day, and not participating in regular activities that children, such as school and hanging out with friends anywhere besides at their house. They must always wear protective clothing. Also, the windows must be covered unless sprayed with tinting material. They can only play outside at night.

How can the disease be treated?

There is no cure for XP. The only treatment is protection from the sun, and the deadly UV rays that accompany it. This involves staying inside during the day, wearing protective clothing (long clothing that covers most of the body and is very tightknit), and applying sunscreen with a high spf often. Also, they should be checked often for skin cancer.

What is the life expectancy of someone with this disease?

The life expectancy all depends on when someone is diagnosed. If they are diagnosed after they have already had great exposure to the sun, or never diagnosed, then they will most likely die young from skin cancer. However, if it is diagnosed early, and the person is protected from sunlight, then they can have a fairly normal lifespan. The average lifespan for patients usually falls in between these two though.

What are the physical symptoms of the disease?

The areas exposed to the sun will turn red and have heavy freckling and scaly skin. They may also have random dark spots on these areas. Then their skin will become mottled, with the blood vessels showing through their skin. After that, they will most likely develop different kinds of skin cancer. They may also have eye issues, such as being sensitive to the sun and being easily irritated. They may also suffer some type of mental retardation.

How is the disease diagnosed?

The first clue to whether a child will have this disease or not is if they have severe sunburn after minimal exposure to sunlight. For conclusive testing, the DNA repair factor will be tested to see if the cell can repair itself or not. If it can't, then the person has XP. This disease can present itself later in life, but it is rare. It is most commonly diagnosed in the first two years.

What are the chances of a person with this disease passing the disease to their offspring?

The chances depend on whether their spouse is a carrier, has the disease, or is completely free of the mutated genes. If the the spouse is a carrier, than it's xx,Xx, and they have a 50% chance of passing it on, and all of the unaffected children will be carriers. If the spouse has the disease, than it's xx,xx and all of their children will have the disease, because there aren't any healthy genes present. If the spouse is free of the mutations, than it's xx,XX and none of the children will have the disease. They will all be carriers however.

How prevalent is the disease in the population?

It is extremely rare. In the U.S. and Europe, it affects about 1 in 1 million people. It is more common in Japan, N. Africa, and the Middle East.

If this disease is genetic--what are the possible genotypes of the parents?

The parents must either be Xx,Xx (both parents are carriers), xx,Xx (one of the parents has the disease, the other is a carrier), or xx,xx (both of the parents have the disease). If the parents are XX,Xx then there is a chance their children might be carriers, but none of them will have it. If the parents are XX,XX then the mutated gene isn't present in the family at all.

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

This disease is autosomal recessive, which means that both of the parents must pass on the gene for it to affect a child. The parents would both carry one gene, but it would not affect them. However, since XP is caused by the mutation of several different groups of genes, only one of the pairs has to be mutated for a child to have it. It must be both copies of the same group that is mutated though.

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

Genetic counselors are health professionals who have specialized in genetics and help the families with their problems. They teach the family about the disease, inform them of their options, and investigate the disease's presence in the family. They also tell them of programs to help them, and how they can be supported in coping with this disease.

Genetic counselors hold a Master's degree from several specific programs throughout the country. They study the genetics, and counseling. They also participate in clinical training. They are certified through completing the course, and passing the examination given by the American Board of Genetic Counseling.