Case Study : PXE International
Diagnosed with PXE
Shortly before Christmas in 1994, Sharon and Patrick Terry noticed a rash on the back of the neck of their 7-year old daughter, Elizabeth. While Sharon was fairly certain the rash was caused by cheap detergent, she decided to take Elizabeth to the doctor just to be sure.
After a series of tests, their doctor told the Terrys that both Elizabeth and their other child, Ian (aged 5), had a rare genetic disease called pseudoxanthoma
elasticum (PXE). The doctor could not tell them much about the disease except that both children would probably go blind at some point.