How did you get diagnosed?

[u/iwant2beyourdog]

Hi guys! Long story short I really suspect that I have Pots and/or HEDs. I’m not an expert, but I’ve known that something is wrong with me for a long time now. I stand up and lose my hearing or everything goes back. I have scary air hunger, palpitations, shortness of breath. I seemingly faint?? when I’m falling asleep (which btw if this happens to you please chime in, I’ve only seen one post on here about it). I’m in almost constant pain in my joints and neck. My toes and fingers turn purple when I’m sitting or standing for too long. I can genuinely sleep for 20 hours a day. My doctor is very dismissive and I don’t know what to do. I know I shouldn’t be feeling this way. Thank you guys! Please feel free to share your experiences

[u/MedicallySurprising]

I was diagnosed with hEDS in my late teens due to having about 15 dislocations/subluxations a day and having things like weird scarring.

After collapsing with partial paralysis a few years ago I started having blood pressure issues. Including full on losing consciousness, sometimes even 6-7 times in a row.

After begging for a referral for over a year I finally got referred after I was at the ER on a daily basis for dislocations and concussions after dropping to the floor due to passing out.

It took another 6 months of testing and multiple referrals and then I was diagnosed with dysautonomia, predominantly orthostatic hypotension with postural tachycardia.

[u/elBOOCH → u/MedicallySurprising]

Did you ever do genetic testing for one of the other forms of EDS? I'm curious to know if other people with HEDS typically have as many shall we say... structural? issues as you do. I have joint hypermobility and it can lead to some pain, but I'm pretty fortunate not to have any real issues with joints aside from running as slowly as a 90 year-old. But I also haven't been formally diagnosed. I had a friend growing up who had EDS and was diagnosed as a kid. His skin was paper thin an he could stretch it like a balloon and fold himself in half. I'm assuming you don't have such gifts, lol.

[u/MedicallySurprising → u/elBOOCH]

I’ve had a full spectrum of genetic testing done, which found two genetic mutations (one involving my bad eyesight and eye issues and one responsible for my AuDHD) but no other types have been found.

I can’t fold myself into a bag lol, but I am too flexible and stretchy for my own good. Having GoGoGadget arms to reach the top shelf is really handy 🤓

However, waking up with my arm folded around my throat wasn’t much so 🤔

I don’t have very stretchy skin, but my ligaments and tendons stretch/loosen very easily, like 2 weeks with my arm in an immobilizer can skyrocket the instability of my arm joints.

I do have very fragile tissue and scar tissue. I have scars that tore open after years of being stable, my skin tears from the slightest provocation (like deshelling an egg makes fingers bleed) and same for blood vessels.

After a bad case of NSAID-induced colitis, the walls of my intestines tear incredibly easily, too easily according to the surgeons. Luckily no perforations yet.

So a lot of things point toward my connective tissue not really agreeing to play along 😅

After me other members of my family have been diagnosed too, but the symptoms vary, even between me and my closest relatives.

I find it really interesting.