I think I may finally be moving forward with potentially getting closer to figuring out the main issue or one of them. Got the genetics test results back but only one of the 81 genes showed up and the variant was VGUS: IKBKAP VGUS, p. L 1139. When you look this gene up, one disease shows up called Familial Dysautonomia which is primarily seen in people who have Askenazi Jewish ancestry. fortunately I do not have the variant to even be a carrier, thank goodness!
So.. With that being said, My new neuromuscular specialist has mentioned that she believes my sfpn is due to autoimmune. She brought up my high TPO and I reminded her of my AIAG and UCTD and she said People with UCTD often have sfn issues. I told her more of my symptoms such as the syncope, issues with orthostatic hypertension, heat issues (like a broken thermostat on top and raynauds in my legs, toes, hands, and lips. And she asked me about pain in different areas. She also asked me to bend my thumb, stretch my skin, bend down, put my knees back (I can do all these things) and whether I had a bump on my chest, and a pea fit between my boobs?? I don't get that one but thinks there may connective tissue involvement.
She is referring me to her colleague who specializes in Fibromyalgia ( not sure if this is related or separate to the above tests?) I looked it up and it seems that alot of people who have Lupus and RA also have Fibro and it seems those with Fibro also are seen with chronic fatigue.
My daughter also is very flexible .. so I'm intrigued by her questions.
Maybe she isn't so bad after all and she just need to redo a whole bunch of tests ( what I call back tracking) and I needed to be more persistent with my symptoms and explain them a little more clearly. Atleast we can rule out Cancer, and genetic from what they tested. I am encouraged and hopefully get closer to a more definitive diagnosis.
anyone else UCTD?
Anyone with uctd diagnosis for now?
