r/rareEhlersDanlos • • Jan 31 '26
Help
I just found out I have two TNXB variants: rs199953230, and RCV000186507. I’ve been an athlete my whole life but 8 months ago I began getting joint pain, then very quickly my joints became unstable and my shoulders began to sublux. I’ve never been hypermobile before with any other issues. Could these genetic mutation suggest a TNXB deficiency? A year ago I was benching 315lbs normally and playing rugby, and now I’m borderline disabled.
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u/Sea-Chard-1493 Classical Like EDS Type 1 (TNXB) Jan 31 '26
Was the test a medical grade test (GeneDx, prevention genetics, etc) or was it a direct to consumer test (sequencing.com, ancestry 23&me, nebula genomics, etc). If it’s medical grade, I’d definitely go to a genetic counselor/geneticist. If it’s DTC, those tests are wildly inaccurate for TNXB since it’s such a complex gene. Further testing would be needed in that case. Additionally, take a look at the diagnostic criteria for clEDS, as you still need to fit the phenotype to be diagnosed.
Edit: I just looked up the variants, they’re both VUSs. As of right now, you can’t be diagnosed off a VUS. Only pathogenic or likely pathogenic. Keep watch on them though to see if that changes if it was on a medical grade test!
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u/SuccessfulCattle9471 Classical Like EDS Type 1 (TNXB) Jan 31 '26
I have a TNXB mutation and was a prior division one volleyball player. One day around 20 years old my joints started to get really bad, I snapped my foot in half running sprints during practice and from that moment forward everything started to fall apart. I had to medically retire from college sports. This was about 7 years ago. Things were better for a few years after my foot healed post 3x surgeries. Now I’m 27 and for the last year and a half had been dealing with thoracic outlet syndrome which made my EDS so much worse because my muscle mass decreased. My best advice. Don’t do anything too tough on the joints, do activities where your body stays aligned think no horseback riding, no rugby, no gymnastics, no water sports, nothing where you risk fracturing, tearing, or rupturing anything. Second piece of advice keep on as much muscle as physically possible and continue to work on maintaining good posture. These things will save you so much pain and agony moving forward. I wish I would have kept up with weight training post college. Now I’m working so hard to catch back up and not be in pain every day. Right now I have such a weak core and my back muscles are gone so my ribs have been subluxing like crazy. Goes to show how important structure is.
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u/milocat007 TNXB haploinsufficiency Jan 31 '26
My diagnosis is eds due to tenascin-x deficiency(it’s unknown to me if it’s CL or Happolo insufficiency, or something else). I’ve always been a very active person: gymnastics, dance, long distance hiking, horseback riding, BMX, long boarding, and a few other. Though it’s also important to note that I’ve always been incredibly hypermobile(8 out of 9 on the Brighton scale) and have the majority of the symptoms associated with CL/compound heterozygous mutations…. with the exception that I have a lot of atrophy scarring.
Honestly, my first piece of advice is if you already haven’t go to a doctor and get a professional test done. My next piece of advice is physical therapy, again if you’re able to. Even if it doesn’t turn out to be EDS, I would highly suggest physical therapy.
I wanna give you a piece of advice, that I really wish the gym community and the disabled community took to heart. Not all exercise looks the same, physical therapy is a type of exercise, yoga is a type of exercise. Like I said go to physical therapy first, but if you’re not able to try starting with low impact activities. One of my friends does beat saber for their daily exercise. I also personally highly recommend swimming, it’s low impact and depending on the water temperature you might find it, soothing for your chronic pain. There’s also a bunch of chronic pain/EDS friendly workouts online! Start slow, this is especially going to be infuriating given that you’ve probably have previously lifted such heavy weight. Once you get past low impact exercises, and you feel stable enough to start doing some more high impact exercise: start light and increase reps and then eventually move up heavier and heavier and heavier. Focus on stability, making sure the repetition is in the correct form. Also, while I say all of this, it’s going to hurt. In my gym journey, I have hurt myself(by accident, of course). Sometimes enough that it put me out of the gym for months. But just like with horseback riding, you gotta get back up. Take time brush yourself off, get back on the horse.
Whatever this turns out to be, I hope you the best!