u/Biancawins_

My PCP and Cardiologist suspected it so they sent me to a genetic doctor who specialized in EDS. We ruled out other connective tissues issues with a genetic test. My results came back with a non diagnosable heterogeneous VUS in my TNXB.

Based on my results coming back negative and my clinical assessment, she told me today that I meet the criteria and that she’ll be sending over her assessment with some literature on the syndrome to my other doctors.

Some of the criteria I fit was 9/9 beighton scale, very elastic velvet skin, no tension in anything on my body (she said even my cheek was loose when giving me my genetic test swab), dysautonomia (i.e heat intolerance & feeling like I’m gonna pass out often), and GI issues like slow digestion and chronic nausea. There was more but I’m already talking too much.

She’s also sending me to a PT that specializes in hyper mobility! I’m excited to start this journey. Let me know if you have any recommendations!

My genetic results came in with a VUS in my TNXB and a non diagnostic result.

Not looking for medical advice or trying to make any diagnoses. I am just looking for anyone else who’s had a similar experience.

They used PreventativeGenetics lab because she wants to test me for classic-like. She said it could take a couple months but was wondering if anyone else had a timeline they’ve experienced.

The lab has already called me with the cost and I have authorized the test. I approved the results to be uploaded to MyChart prior to the doctor reviewing it.