Xeroderma pigmentosum is a hereditary deficiency in part of the nuclear repair enzymes, inhibiting the body's ability to repair damage caused by UV rays. UV rays cause pyrimidine dimers to form in our DNA and endonucleases, DNA polymerases, and ligases work to repair the damage. If any of these enzymes are decreased, ineffective, or all together missing, the DNA will not be repaired properly. Increased DNA mutations lead to increased risks of malignant growth.
This past week I had the chance to hang out with a kid who has XP and take a small glimpse into her world. She spends all of her time between 7 AM and 8 PM in doors. If she had to go outside, she would suit up in a jacket, jeans, close-toed shoes, gloves, and a hat/hood that looked like a bee keeper's hood but it was opaque. In the 90+ degree heat, this was less than comfortable. She was diagnosed as a baby when, after 10 minutes outside in the shade, she was severely sunburned. Ever since then, she has lived in this inside world. I can't imagine it is easy being a kid with all that pent up energy and not being allowed to run around outside or play with the other kids. But it is a necessity. These kids can get skin cancer from a very young age and the only protection is UV avoidance.
Wikipedia has a nice list of literary and film references about people with XP. Also, the XP family support group has tips on how to protect yourself against UV damage. From special clothes to window tints to avoiding sun at airports, theme parks, etc, the support group has lots of interesting strategies for avoiding the sun.
Subscribe to:
Post Comments (Atom)
No comments:
Post a Comment