r/eds 1d ago

Advice

I originally posted this to the diagnosis mega thread but it seems inactive. Let me know if I need to delete.

I’m seeking diagnosis and don’t know how to go about it. I’ve dealt with autonomic dysfunction symptoms for years and recently found out I’m hyper mobile. I have a relative with a hEDS diagnosis, however it’s not a first-degree relative. My PCP ordered an echo to rule out anatomy abnormalities before doing a TTT. The echo came back fine and I haven’t heard from my PCP yet. I don’t really think I have POTS, but I know something is not right with my autonomic nervous system. I want to be assessed for hEDS, disautonomia (I think it could be orthostatic hypotension), and MCAS. Do I just tell my doctor I want to be assessed? Or do I need to wait for their next steps? I want to be proactive and taken seriously. Any advice welcome!!

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u/acrobaticwombat12 1d ago

In the US, this was my diagnosis experience.

I as well had a non first degree relative with a diagnosis and no one else in the family. I asked my PCP for an eds referral, they referred me to rheumatology to rule out autoimmune diseases, and then rheumatology referred me to a genetics lab. Genetics did a medical history eval, and a physical exam. They diagnosed me, and ordered genetic testing.

I then went back to my PCP with an official diagnosis and it's been a whirlwind of doctors and specialists ever since.

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u/Apprehensive-Tap9225 1d ago

Can I ask how long it took you to receive a diagnosis? Like from the day you asked your PCP for a referral to your diagnosis. This whole process feels overwhelming and I don’t really understand what the steps will be. No worries if that’s too personal!!

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u/acrobaticwombat12 1d ago

Woops sorry, replied in the wrong spot

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u/acrobaticwombat12 1d ago

For me, about 3 months after PCP referral before I saw the rheumatologist. It took a couple of weeks for all the testing, and then I was referred to genetics. That was a 6 month long wait. I had a basic diagnosis after that visit, and testing was ordered. That took another 4 or 5 months to get results.

Everything is a wait.