When I was born in 1972, not much about EB was known. No one else in my family had it until my brother was born in 1974. Sometime in my childhood, I was diagnosed with EB Simplex.
As I got older and the Internet became a thing, I researched. With the severity of my EB (eye involvement, blisters in mouth, throat, and intimate areas, scarring), I thought that I just had a more severe case of Simplex – why would I question a doctor’s diagnosis?
Fast forward to 2022. Through GeneDx, I discovered that I don’t have Simplex, I have RDEB! My brother and I were shocked.
I go back and forth about the misdiagnosis. I’ve been an educator for 23 years. I have two master’s degrees. I’ve been married for almost 30 years and I have three kids. I’m an avid hiker and I love to ride bikes and work out. I’ve travelled the world and I have tattoos, for Pete’s sake. Would all of that had happened if I’d known that I had a more severe case of EB? Who knows? I definitely would have given myself a break when I couldn’t breastfeed because of the blisters or when I had to stop an activity because of my feet or when I didn’t want to be in a crowd because of my elbows, etc.
I’m thankful for the advances in science that are making diagnoses more accurate and for the professionals at Stanford who are compiling disease types to streamline treatment options, etc. I’m also thankful for the Internet that has made this world a little smaller so that kids born today won’t know a world where they’re the only one with ‘bad skin’.