JenniferInOhio Posted March 27, 2015 Report Share Posted March 27, 2015 what led to your diagnosis? Did you have symptoms and if so, what were they? Or, were you randomly diagnosed when seeing a doctor for something else, like pots? Quote Link to comment Share on other sites More sharing options...
Katybug Posted March 27, 2015 Report Share Posted March 27, 2015 I had symptoms and once I found out it can be an underlying cause of pots, I found a geneticist in my area that is an expert in EDS. She did a thorough exam as well as a thorough review of both my and my family's medical history to make the diagnosis. I am Hypermobile in all my joints, have bluish sclera (whites of eyes), high palate, soft/velvety stretchy skin, very visible veins especially on my chest, deformed cartilage of my upper ears, (I know there are other things I'm forgetting). Quote Link to comment Share on other sites More sharing options...
Katybug Posted March 27, 2015 Report Share Posted March 27, 2015 Flat feet/fallen arches, piezogenic papules, collapsing ankles, mitral valve prolapse. Quote Link to comment Share on other sites More sharing options...
Noonoo Posted March 29, 2015 Report Share Posted March 29, 2015 My sister was diagnosed after a sudden onset of POTs as the doctor got her to do the Beighton score. I had a sudden onset a year later and was also diagnosed. Since then our mum and my niece have been diagnosed and I have a toddler who I'm guessing by the clunking and popping I hear, will go the same way. Our inheritance has been 100% which feels like really bad luck. Quote Link to comment Share on other sites More sharing options...
Dyspatient Posted April 8, 2015 Report Share Posted April 8, 2015 I was diagnosed at 41, after I somewhat serendipitously subluxed my hip on my way in to an appointment with my primary care (for something totally unrelated). He saw me limping and asked what was up "My shoe fell off and I turned my leg out to get it back on in the car and my hip went 'ping' and now it's back in badly," I explained. He sighed, and said "does this happen a lot?" "Oh yeah." He then put me through the Beighton scale, I could do a lot of the larger joint motions but not the finger stuff, and said "do you want to see a rheumatologist? like, right now?" because my PCP shared office space with a rheumatologist it turned out, and the rheum's current patient had been a no show. So down the hall to the rheumatologist I went, did all my bending and whatnot, and ended up with a referral to a geneticist in my area. A BIG family and personal history later (which included paternal side deaths from aneurysms, exceptionally tall, flexible maternal aunts, and a personal lifetime history of passing out including a positive tilt table test two years prior) and I was given a clinical diagnosis of EDS, most likely hypermobile type. My genetic testing revealed a mutation in the COL3A1 gene, the gene that goes with EDS-IV/vascular, although my mutation was a novel one and we have yet to do any family testing. And so now I have a diagnosis. A strange path to that diagnosis. I still question it, since I do not have exceptionally elastic skin and even in just the last two years I have lost a lot of flexibility (my muscles are in a lot of spasm, making up for my joint hypermobility, explains my physiatrist), and my siblings are not very affected...but it does explain a WHOLE lot of my otherwise "unrelated" symptoms, including my POTS, NCS, and tendency to hurt myself just bending over. I'm exceedingly thankful for my PCP being a very on the ball kind of guy, and for my hip doing it's rotten little trick at just the right time. Quote Link to comment Share on other sites More sharing options...
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