Stickler Syndrome

Stickler Syndrome was a stranger for so long Someone I knew but could not name Lurking in the shadows And floating in my vision It was there all along In my long, graceful fingers And my eyes that don’t work great In my joints that are more bendy than most And my face with features flat and small It was there with me during every surgery Each visit to the eye doctor It was there with me when I wore an eye patch And couldn’t go out for recess It was there when I couldn’t play

In part 1 of this essay series, I shared a little bit of my family’s experience with Stickler Syndrome, including how we finally found out we had it. Today, I’d like to tell you what it’s like to live with this disorder. While I’ve lived with Stickler Syndrome my whole life, I didn’t know I had it. I have always been severely nearsighted. At the time of this writing, my prescription is a -18.5. Most eye doctors I see, including some specialists, are astonished by me. I

I’m a mutant like the Ninja Turtles or the X-Men. At least, that’s how I explain things to little kids. You see, I have a genetic connective tissue disorder called Stickler Syndrome. Stickler Syndrome is caused by a mutation in certain collagen proteins. There are currently six known variants of Stickler Syndrome associated with the following genes: COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2. It can cause eye issues, hypermobility, flat facial features, cleft palates,

I was painfully shy growing up. I’m still shy now, but nowhere near as bad as I used to be. I’m socially awkward. Always have been, always will be. I hate small talk. I’m not good at it. I’d much rather have a deep discussion with someone than participate in polite, surface level chatter.