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randochikn

557d

Vascular EDS variant of unknown significance? I got a genetic test months back and got the results for my connective tissue panel a few week after being tested with a cheek swab. It found a COL3A1 mutation that they couldnt tell at the time what it meant for me. My geneticist didnt revisit the idea of my Hypermobility Spectrum Disorder diagnosis, and I also have ANOTHER eds gene mutation for spondylodysplastic type 1. I had two others for nuerodevelopmental issues also related to connective tissue. My cousin got tested recently, and had the exact same gene variant (which is NOT common, as of the data we have right now it has a 0.02% of people who had it that were tested in a study). My cousin saw another geneticist at Childrens Hospital in my state and she was concerned about Vascular EDS because of his gastrointestinal issues, his weight gain issues and his chronic pain. When I went in January to see my geneticist, I didn’t have as much pain as I do now. It has begun to get worse. But I have some similar issues to my cousin, luckily my Echo was clear but we haven’t gotten many tests for me as of right now. My cousins mom is going to be tested as well for the variant, she has a lot of EDS issues too. I felt kind of left in the dust for the past few months but I am so glad my cousin got his test results back and now maybe the geneticists will listen and know that it runs in my family and gene expression is different for everyone so it varies. I want to get an MRI to be sure i dont have a chiari malformation because I have had some weird head symptoms lately and I have a medium level scoliosis. I wonder if anyone else has the same experience?

    • xoxcaitxox

      557d

      what genetic test company did you go through

      • randochikn

        557d

        @xoxcaitxox Invitae, they do a lot of genetic testing

☝ This content is generated by our users and it is not a substitute for professional medical advice. Please consult with your physician before making any medical decision

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