It's been a long year since I first realized that I fit the hEDS criteria and went on my journey of getting assessed so I could finally get answers to my medical issues. At last, today I've been diagnosed with Stickler Syndrome by a geneticist 🥳

I've been dealing my whole life with joint pain and instability and other weird painful medical issues. I made it a point to see a geneticist to be assessed, and thankfully this geneticist did do their due diligence by actually trying to match my symptoms to any connective tissue disorder instead of assuming it was definitively hEDS since I fit the criteria. This geneticist suspected I had Stickler Syndrome on account of retinal tears and detachments in both my eyes in my early 20s, high myopia from an early age, and mild facial characteristics (flat midface, huge eyes).

My genetics test came back with a VUS on COL11A1 and nothing else. Abnormalities in this gene have been associated with multiple connective tissue disorders including Stickler type II. Although I've seen that there are many people whose geneticist refuse to make diagnostic decisions based on a VUS, my geneticist said that it is their policy to diagnose if the VUS is in the right gene for a condition that the patient's clinical presentation matches up with, especially if the VUS is predicted to have a negative effect. Even though I present like hEDS, I had supporting evidence for Stickler: Stickler symptoms (even if mild compared to people who were diagnosed as babies), my retinal specialist agrees that my eyes present like Stickler, my VUS is rare, my VUS is predicted to be negative, and my family has a history of early onset arthritis (prior to 40, a symptom of Stickler). So they went ahead and gave me the diagnosis of Stickler.

If I hadn't insisted on genetic testing, I probably would've ended up either diagnosed with hEDS or not diagnosed at all (since it is so hard to be taken seriously, especially given that I seem to be more hEDS like at first glance). With this diagnosis, I know I have to have checkups for my hearing, eyes, heart, and hips since Stickler Syndrome has high occurrence rates of issues with these. I will still have many of the same issues that people with hEDS could have, though. I still have to check back with the geneticist in the future in case anything new has been decided about my VUS or diagnostic criteria for connective tissue disorders. Thankfully, the geneticist and GeneDX are offering my parents free testing of their COL11A1 gene to try to move forward with research on my VUS!

I'm glad I finally have some kind of answer, even if I could be reclassified with a different disorder in the future. And I'm glad I still have the EDS community to share in our experiences 🥰