Living with a genetic disorder: Xeroderma Pigmentosa

Inspired by Diabetes Notes’ "Putting a Face on Diabetes", I wanted to do the same and show how people with genetic disorders – rare or common – manage their condition and live their lives to the full.

I found a feature article about a teenager named Lizzie Tinney, living with Xeroderma Pigmentosa or XP. Lizzie is only 13 years old and yet she already had to undergo surgeries to remove skin cancer sores. Even while wearing protective clothing from head to tow, Lizzie still has to carry around a meter to measure how much UV light she receives.

"It’s way hard. Its way still hard because I love the sun," says Lizzie. "But now that I know that I have XP, I can just go out with my hood on and I go out and play."

Xeroderma Pigmentosa is a rare genetic disorder in which the skin is unable to repair the damage caused by ultraviolet radiation, such as such exposure. The skin becomes so sensitive to UV rays that it gets thin and pigmented. The DNA damage accumulates with age and is so irreversible that risk for skin cancer is 2000-fold.

To find out more about Xeroderma Pigmentosa, visit the Xeroderma Pigmentosum Society website.