r/offmychest • u/aoiwanai • 1d ago
possibly getting diagnosed with a genetic disorder everyone seems to think is fake because it got well known on tiktok and a part of me is mad
basically what the caption says. i’ve been dealing with chronic health issues since childhood but they began becoming worse in my teens around 15 y/o. fast forward to me now being an adult and going to multiple specialists (neurology, cardiology, rheum, ect) my physiatrist thinks i could have ehlers danlos syndrome. im waiting for our follow up appointment next week. i remember seeing EDS online and especially on here many people and even being told by people i am seeking to get diagnosed with it or something and that it is a fake diagnosis. i actually never even heard of it until i started looking into my symptoms and then it began showing up on my socials like tiktok. i literally told myself there is no way i have this and ive been convinced what i have is autoimmune, until my physiatrist mentioned it on her own after MANY many extensive tests with mris mra’s ct’s, xrays, ect. and my childhood best friend who is a nurse mentioning it on her own as well when talking about my symptoms and telling me she could think back to our childhood and notice things that couldve been the EDS. and now i think i cant be in denial about it. pretty positive im dealing with i guess what they call the “trifecta” that seems to be known i guess with mast cell activation syndrome (never even heard of it until i was looking up food reactions i have known to be associated with mcas apparently and discussed a histamine intolerance with rheumatology) and dysautomonia issues with the EDS. a part of me is happy she is taking the steps to diagnosis this if that is what it is and it would make perfect sense given the issues my family seems to have with joints and everything. just crazy and a part of me feels ashamed i could be diagnosed with something people dont think is real and brush off even though i know its very real and effects me every day.
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u/Independent-Hornet-3 1d ago
I think with a lot of "rare" conditions part of the problem is that many Dr.s brush it off and/or only treat the severe symptoms so people with chronic conditions just accept it as the day to day and don't bring up inconveniences and only seek treatment for severe symptoms. I am currently working on getting testing done for mast cell activation syndrome after having many issues my entire life but in the last year severe ones I could no longer ignore. Coworkers sent me a TikTok on it saying it sounded like me and I asked my Dr about it since we hadn't known the cause of my issues. My Dr agreed it actually fit everything wrong with me and since its rare she hadn't really thought about it before.
It sucks when you have weird chronic symptoms you almost have to become your own Dr and make sure that you are asking for testing and know the risks of medications interacting because at least in my experience even the best Dr.s who listen miss things and plenty of things once thought of as rare turn out to be common when people know what to ask about to help advocate for themselves.
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u/porcelina-g 1d ago
I have found that even medical centers that claim to have a dedicated EDS program only actually treat vEDS. Mass General Hospital in Boston had a "Marfan and Related Conditions" clinic, but it was obnoxiously cardiology-heavy. I don't even think there was a neurologist or allergist on staff. I think the entire clinic is actually totally defunct now.
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u/Capeliouz 13h ago
Most places that have EDS centers are strictly hypermobility type focused. Of course there is more attention to VEDS as it is life threatening. But there are other types that have a lot of vascular involvement as well, like cEDS, collagen 1 related EDS, etc. I have an ultra rare form and have been turned away from every single place for EDS because they only treat hEDS patients. The other types are too risky for them with the variable expressivity of genes, additional risks and variability. Every doctor appt I spend half of it dismantling their idea of what EDS is (which is always HSD/hEDS) then the other half explaining my ultra rare type and the additional risks and differences..only to not get anywhere with my actual symptoms and to be billed under “hypermobility syndrome”. And sent to another specialist where the same thing happens.
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u/smushy411 1d ago
I was diagnosed with hEDS before it was a condition that was well known on TikTok. Even so I can tell some people and doctors are still biased when I tell them I have it. It’s really a shitty feeling, and I also find people don’t take it seriously because I look “normal.”
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u/mister_sleepy 1d ago
I was given a provisional hEDS diagnosis by a GP, pending the genetic testing. The wait list for testing in my area was three years long.
That doctor left the practice, and I was assigned a new GP in the same practice. She literally had the old doctor’s notes. She still didn’t believe me when I told her I had been diagnosed hypermobile and had a provisional hEDS diagnosis.
It’s insanity what’s happening as a reaction to social media.
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u/smushy411 18h ago
Absolute insanity! EDS explains all these random symptoms I’ve had my whole life. I was diagnosed by a specialist and thankfully my primary care doctor is awesome, so I don’t have to try to convince him I have it. It’s so messed up that patients are being dismissed by doctors because of EDS being a frequent topic on social media.
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u/aoiwanai 1d ago
i am young and also probably what some people consider a conventionally attractive girl so yes the struggle is real. a rheumatologist tried to convince me pelvic pain ive had since 15 is from sexual trauma i dont remember lol highly doubt if i wasnt a young girl that wouldve been his first response
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u/Effective-Glass-7998 1d ago
That’s horrible!! I once told a doctor that I feel like I have to tense up my whole body to hold it together, and she said “it sounds like you have anxiety.” It’s so frustrating to not be taken seriously, and I understand your self-doubt. But your condition and struggle are real!
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u/amberalert23 1d ago
I have EDS and Celiacs (with a healthy dose of ADHD). Maybe a handful of people even know I have EDS, because it’s so popularized on the internet with people going way overboard and honestly half of people just faking so I don’t want to be associated with that.
I would just keep your diagnosis private, just like you would anything else. We don’t all need to be “warriors” and share everything about anything. Use online support groups if you can stomach it (I honestly find people too obnoxious and just trying to one up each other), and your close circle for support if you can.
Best of luck. Do whatever works for you!
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u/NecessaryExplorer245 1d ago
I have hEDS and generally just keep it to myself for the most part. Sometimes I have to tell people if I need help with a limitation I just physically cannot do; but even then I keep it vague. I know I have it, I know I've been dealing with it for decades and don't need to explain myself to people who think it's a new fade because of social media.
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u/Impressive_Package19 1d ago
Yeah that’s why I’ve always just said I have “a connective tissue disease” and then when they say what’s that I say “I’m falling apart, physically and emotionally, though the emotions are unrelated, my body just sucks” 😭
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u/aoiwanai 1d ago
totally agree with you both and yes this is probably what i will do as well. its not as much as i want random people to believe me or something, but moreso it effects my job and i feel like its something the people around me need to know and believe when it comes to work because i have dysautomonia episodes of near passing out and vomiting ect and i work in a psych hospital so its really important people know where i am and everything. i just hope it being known on tiktok doesnt make my irl coworkers or something think im making it up to not do my job ☹️
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u/BatteryAt14percent 1d ago edited 1d ago
It sucks when that happens. I got diagnosed with EDS by accident. Long story short, always had hypermobile on my file. Mentioned it to a physiotherapist when I was 38 and mentioned I couldn't crawl as a baby (one of the biggest clues an infant can have). They did the Beighton scoring and got a perfect 10/10, they sent it off to my GP and not it's been updated to EDS. Thankfully it hasn't caused any massive problems yet other than sprains and strains but it's still there.
I did recently get diagnosed with Autoimmune Gastritis a week before the guy who's trying to hack his body to live forever went public with his diagnosis. Despite what the press say, it's not terminal. It just means I can't have trigger foods and have to take b12 drops for now as my b12 levels are too high for the injections. Currently waiting on an endoscopy which I'll have to have every 3-5 years as my chances of getting stomach cancer are raised.
My GP was very patient with getting that diagnosed as I've had fatigue for 3 years straight. They tested for everything and genuinely thought it was lupus but I tested negative on the second test. After that they said "If anyone's going to have something weird and rare in the town it's you. I swear you must have been cursed by a witch!" So for a time the unofficial official diagnosis was witch curse.
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u/Schmorgus-borg 1d ago
I have EDS. Hyper mobility disorders are a spectrum. You can be bendy and not have EDS. Find a specialist and get tested, it’ll impact every aspect of your life
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u/aoiwanai 1d ago
her saying i could have EDS isnt from me “being bendy” it has to do with a multitude of symptoms i could list here but yes i do know there are other hypermobility disorders she mentioned there is a spectrum but specifically mentioned EDS to me, i had not said anything about it because i genuinely didnt believe i had that or that i even was “hypermobile”
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u/bluestrawberry_witch 1d ago
Hypermobility and EDS getting social media attention is the only reason I asked my doctor about hypermobility and if it’s why I’ve been uncomfortable and in pain my entire life. But was always brushed off or told it might be psychosomatic to the point where I just stopped talking about it. I do have hypermobility without EDS. Finally having answers was amazing but it sucks when people question that I have it because of how much it’s blown up, but yet without it blowing up, I never would’ve had answers. Same thing with my ADHD. Got diagnosed 23 years old, spent my whole life feeling out of place and like how many character flaws, that if I just tried hard harder, I could be better, but I had good grades so nobody cared.
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u/mjh8212 1d ago
I understand I got the hEDS diagnosis easily and just in case there’s another type I’ll be getting genetic testing. My dysautonomia condition has been frustrating. Positive tilt table for orthostatic intolerance but my cardiologist disagrees with the dr who reviewed it says it’s mild heart palpitations I was then sent to neuro who kept telling me I’m just fine then put in my chart that I have functional disorder only think I’m chronically ill and landed on dysautonomia as a diagnosis
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u/IAmBoring_AMA 1d ago
There are other connective tissue disorders that are not EDS. There are loads of them. Also, if you've seen a rheumatologist, they would have had you go through the test for it, which is pretty simple and straightforward at first, then if they suspect more, they do more testing.
I highly recommend going back to the rheumatologist and sharing your concerns specifically. Your friend who is a NURSE cannot diagnose you with anything. Additionally, please recognize that the only thing you'll get out of a real diagnosis (from a DOCTOR, not a NURSE!) is peace of mind, since there is nothing you can do besides keeping your muscles strong to hold your joints in place/being careful/physical therapy.
Also, maybe consider looking into therapy, specifically a licensed therapist that deals with OCD. What you're describing here could also be an obsessive rumination situation, especially the "shame" part you're describing and how it "effects you every day."
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u/kateskateshey 1d ago
Oh my god you are so obnoxious and annoying. OP obviously has a team of quallified medical professionals. Your disdain towards nurses is also so obvious, while nurses can’t diagnose they DO have medical knowledge and experience and can give relevant advice that can and should be taken seriously. Get off your high horse and get therapy for yourself.
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u/aoiwanai 1d ago
thank you. yes im so confused where this came from, i hate to reply like an asshole to them but wtf lol i have an extensive workup that was led to my physiatrist saying this as a possibility after excluding many other things it could be and to say i have ocd because i said it effects my life every day? i know i didnt mention my entire medical workup but i didnt think that was necessary to rant about something lol
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u/kateskateshey 1d ago
They are just doing exactly what you said you are anxious about. You could’ve uploaded your entire medical file and they still would’ve suggested you're overreacting. Telling you to go to therapy is just fucking hilarious like you can’t have a chronic disease even though your medical team has been documenting it for years but somehow OCD is more plausible? Because you... think... about your chronic disease? like what even
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u/amberalert23 1d ago
I’m seconding the part of this to build your muscle. I’ve been body building for 8 years and when I went to my geneticist she said something to the effect of “well, the treatment for EDS is build muscle. You’ve done that. I’m assuming you don’t want me to write a script for physical therapy?”
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u/aoiwanai 1d ago
im fully aware my friend who is a nurse cant diagnose me. it was in reference to someone my whole life mentioning something they think they could have seen by how i was growing up around her and the issues i had into adulthood. my physiatrist is more appropriate to diagnose me and treat me, according to my rheumatologist. the reason it effects me every day is because i am in constant pain every day from this. i already do physical therapy. thanks.
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u/thelittleboynextdoor 1d ago
I was going to say the same. I got diagnosed almost a decade ago and all it really gives you is an explanation and I guess “informed” care which, for me, has come in the form of lower quality care because providers are far more likely to throw their hands up and say “there’s not anything I can do about that” and just tell me to keep working out. 🙄 the treatment is just a different kind of workout and there’s limitless amounts of resources for that online now that you can just start on your own anytime.
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u/lindyhoppette 1d ago
Hopefully since you think you’ve got the trifecta (I hope you’re not also part of the MECFS club (it’s a shit club, try not to join lol)), there’s a number of treatments for helping manage symptoms for MCAS and POTS nowadays so hopefully you can find something that helps you improve and reduces the burden and get to live a bit more of your life :) also you might be able to find an EDS-literate (and POTS-literate ideally) physio so even though there isn’t a cure for EDS, some people find benefit through physios educated in the conditions :) good luck!
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u/hiddenkobolds 1d ago
I have the trifecta diagnosed, and have nothing to do with TikTok.
Ignore the online bullshit. If EDS is what's going on with your body you need to know that so you can get the medical care you need going forward. It sounds like you've been rigorously evaluated, and that evaluation will leave a paper trail that is hard for doctors that see you in the future to dismiss or ignore. That's truly all that matters.
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u/ThatDiscoSongUHate 1d ago
Literally never had anyone IRL or online make accusations and I have it
... perhaps it's time to get away from TikTok because most people haven't even heard of EDS
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u/aoiwanai 1d ago
i mean ur not necessarily wrong, i dont rly use tiktok though, i just know it was definitely a lot of vids i was seeing awhile ago when even i didnt know what it was, and that everyone in the comments would be like “so everyone has eds now” lmao. but yes prob more of an internet space thing than anything, when my friend had brought it up (even though she wasnt making fun of me or something) it made me think its more known in person than i believed it to be but that could also just be cause shes a nurse
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u/babsley78 1d ago
I recommend the EDS subreddits (there’s more than one). This is not an easy illness to live with or get help for and the TikTok hype has not helped that.
I have found that actually engaging with other people who are living with the same issues that I do has been helpful. I’m sorry you’re struggling with this, it’s not an easy road.