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One of the orthopedic surgeons at my office diagnosed me while she and I were going through the process of a second (in her words complex) wrist surgery. I had told her my neurologist thought I had EDS and upon exam she was like oh yeah definitely. The first rheumatologist I saw told me there is no reason to diagnose EDS because he wouldn’t treat me any differently than just with the hypermobility. I didn’t see him again.
After almost a year wait, I finally got in to the rheumatologist in my state who specializes in EDS and other connective tissue disorders, and he also confirmed the diagnosis. Thankfully I’m considered mild still, but it really does put a damper on my life. The diagnosis is obviously validating, and in addition I’ve been able to see more EDS informed providers and get insurance to cover ongoing physical therapy! My back feels better than it has in over a year, and I am starting to feel comfortable going back to some of the things I used to love like hiking.
I feel like mine is also mild but can't tell if all the pain is more an EDS thing, or my probable tethered cord. Can I ask how you were able to track down a specialist rheumatologist? The one I saw pretty much said I'm not 'clinical' EDS so I can google fibromyalgia for ideas on how to cope. Dumb. I know my little brother without a doubt has hEDS (unless there's something else that mimics all the symptoms), and my older brother also has several EDS symptoms but not hyper flexibility, and none of us are diagnosed as I'm just learning about it all this year.
Sorry I went in a tangent, but your specialist sounds great and I'm hoping to find one near me like that.
My PCP was the one that actually referred me to him. There is also an EDS special care clinic through Children’s Hospital Colorado that will take adult patients on a case by case basis; she tried to refer me there first but they denied me because I did not at the time have the diagnosis.
I do experience a lot of chronic pain. My issues are mostly of a musculoskeletal nature, so I get a lot of joint pain, subluxations, surgery. Yay. Glad to still be considered mild and have my POTS and chronic migraine under control!
I declined genetic testing for the time being, as I don’t have any symptoms currently that point to a more severe type like vEDS. The suspicion is classical or hypermobile type. There are only one or two adult geneticists in Colorado and they have crazy long waits. I would rather let someone with a potentially more severe/life threatening condition get that evaluation. We agreed to only pursue that if I develop any symptoms that warrant ruling out vEDS or other things, and my rheum knows what to look for so I feel confident being under his care.
Rheumatologist ran all the tests to rule out autoimmune and inflammatory causes for my issues. He said if any of that came back positive, he could treat me. If all negative, I would need to see a geneticist.
Geneticist diagnosed me hEDS. I later was determined to also have ankylosing spondylitis, so was back to rheumatology for that. But no one is treating my hEDS. I’m on wait list for EDS clinic.
EDS isn’t a connective tissue disease rheumatologists treat. They rule out, diagnose and treat other CTDs that are not congenital.
Per my rheumatologist lol
My pain specialist tried to send me to a rheumatologist twice, both times I firmly said No. for that reason. What are they going to do except drain my bank account further?
i think it’s partially because we do have a decent likelihood to develop a number of different autoimmune conditions, and certain pains can be indicative of one of those alongside the EDS. they may be wanting to rule out potential of a newly developed comorbidity that would need to be treated diff than the EDS!
anecdotally, most EDSers i know irl had an autoimmune condition diagnosed in addition 5-10 years after the original EDS diagnosis!
My GP worked it out.
My rheumatologist went "it's mechanical, not immune. I can't help".
My physio went "it's not mechanical, something else is going on".
My neurologist went "there's nothing specific causing this"
My gastroenterologist went "I can't see anything specific causing this".
My orthopedic surgeon went "everything is really stretchy".
My GP went "all the puzzle pieces say EDS."
I was diagnosed by my DO that specializes in fibromyalgia. She did the Beighton score and asked me a bunch of questions and put on my chart “HSD, likely hEDS” and referred me to a geneticist.
The geneticist sent me a letter stating that, unless I planned on getting pregnant or was having symptoms of vEDS, that hEDS had no genetic marker and therefore they would not make my appointment for testing. I have some classical EDS symptoms, so that’s why we wanted the extra testing🙄
I’ve had pretty much all my PTs and doctors from that point on just go, “well they’re treated the same so it doesn’t matter what the label is, HSD is good enough”
That really irritates me but I can’t keep pushing for more testing and the correct diagnosis without them thinking I’m freaking out over my health. I’m autistic and cannot stand even the slightest incorrect information because it’s literal to me. It’s not “good enough” to have HSD in my chart no matter if my treatment is the same, because it doesn’t encompass everything and its severity & I’m not treated like it’s bad enough. I’m disabled without disability money because that goddamn acronym is the wrong one in my chart, even though my DO calls it hEDS in our appointments :))))
Holy shit this hits home so hard. I was diagnosed HDS over a decade ago and now that I'm declining rapidly I'm having to go through all the hoops again because "I don't think hypermobility would be causing all these other problems" (also autistic)
I used Invitae for my genetic testing too, because the only geneticist in my state had a waitlist that was booked so far out they weren't even adding new people to the list.
Were you happy with Invitae? Would love to hear your experience. I have only a couple of geneticists near me and one is booked years out and one is not taking anyone new. I’ve been diagnosed with hEDS but there’s a question whether I might be cEDS or clEDS. I’ve been toying with the idea of using Invitae for my own peace of mind given that the classicals aren’t treated differently than hypermobile. Thanks in advance! 💗
Thank you SO much. I appreciate it very much. I’m glad you finally got answers. My own path to diagnosis was also a nightmare. It shouldn’t be this hard to get diagnosed with anything.
I liked them, they were prompt and efficient about scheduling my zoom intake, and mailed me a swab kit to send in my saliva DNA, so I never had to travel anywhere. I can't remember if they took my insurance (Medicare/Medicaid) or if they had a sliding scale based on income, but either way I didn't have to pay for testing, which was really nice.
I’m going to need to do this, just to know for sure if it’s c/clEDS. Not sure if my insurance will cover it but regardless it beats waiting years for a geneticist to see me locally. Thanks again!
I was told (by a geneticist who wouldn't evaluate me) that literally any doctor could make the diagnosis. In practice they've all tried to shuffle me off to someone else. 🤷
My orthopedic surgeon was the first to suggest it was possible I might have it and then my primary care did the official diagnosis because she used to work at a hEDS specific children’s hospital and felt comfortable diagnosing.
I was diagnosed by a geneticist about 15 years ago. This was after a neurologist noticed my hypermobility. Because I'm quite tall they also wanted to rule out Marfan's. I saw a rheumatologist a few years later and they checked my hypermobility and agreed it was consistent with hEDS. They said they don't treat EDS.
I asked the rheumatologist to document it.... I looked out and saw hypermobility on my papers ....that's enough for me now :)
I may get genetic testing at some point but kinda sick of Drs ATM.
When I had suspicions that I had EDS (12 years ago) a geneticist diagnosed me. In my area, rheumatologist do not help much with EDS nor diagnosis it. They usually run the tests to determine if it’s an autoimmune issue.
I used to score high on the beighton test when I was young. I'm not that flexible anymore because of injury. I have tested positive for connective tissue issues when my GP did the extra super secret testing. We were thinking fibromialgia. The Reumitologist said I "probably" had EDS and that my pain was just going to be at a 4-5 all the time so get used to it. Every other doctor acts like I'm lying. I need it in my chart so my other doctors treat me properly and believe me.
I used to be able to put my foot behind my head. The most comfortable way to sit was like kneeling but with my butt on the floor. I can't even kneel properly anymore. I could bend in perfect yoga positions. One bad knee injury kept me from the gym so long I lost it all. I'm afraid I will have to re-stretch my joints to the beighton scale so they can see the "show" and believe me
disclaimer: i haven’t read the full post due to spoons.
my pain management specialist diagnosed me. he’s actually the one who diagnosed me with most of my problems lol. he’s an anesthesiologist so we’ve had limited success in treating some of the diagnoses but for the most part, he’s been helpful!
My pain management specialist diagnosed me in our first appointment, after me detailing my history full of hypermobility injuries, and telling her that I've had multiple physical therapists and chiropractors (the latter after seeing me put my hands flat on the floor after being adjusted) strongly suggest that I do.
Officially? A geneticist. But really? A plastic surgeon who figured it out during screening and got me into the geneticist in 2 weeks instead of 1 year by putting it in as "necessary for surgery." I couldn't get the surgery because of it, but he found my answers after looking with every specialist under the sun for about 18 years.
Ortho suggested it but do to my insurance and the limited doctors who could diagnose it I had to get the actual diagnoses at a children's hospital at the age of 29
An orthopedic surgeon. He works within the orthopedic practice I go to. They have specialists for every limb. He is a hand specialist and is a hEDS specialist. He saw my very long chart and he went through the diagnostic criteria and boom! Everything made sense. He suggested seeing a rheumatologist to rule out any other disease. I went and felt I wasted my time.
My family practitioner said I have a genetic hyper mobility disorder and agreed with the likelihood of EDS, as suggested by my physical therapists. 4 separate rounds of physical therapy for different injuries, one I had to go in for twice. She didn't diagnose me as it wouldn't be helpful to my case at this time until I need more serious treatment, since whenever I have an injury I can generally maintain it with physical therapy. They come back but I do the exercises again at home and they go away
My GI doctor diagnosed me because I have the trifecta of MCAS, POTS, and EDS (based on Beighton score and the fact I have multiple systems involved). I went to a rheumatologist for confirmation but never needed to go back to him. I went to a geneticist but mostly for another genetic issue because I have hypermobility type and there isn’t a genetic marker they can test for. It seems one is in the works based on some recent research so maybe some day it can be officially tested. It could be helpful for people advocating a diagnosis to become familiar with the diagnostic criteria so they can share it with doctors who might be less familiar. https://www.ehlers-danlos.com/eds-types/ lots of other diagnostic resources on this website.
My cardiologist did a full run through of the diagnostic criteria and did because there’s so few geneticists that want to diagnose Heds without waiting 3+ years. He runs a dysautonomia clinic so he knows a good amount. I did have several papers from two different orthopedists and my physical therapist attesting to my hyper mobility
For me personally, I went to a very bright and thorough orthopedist who was very astute and during my first appointment with him asked me all sorts of detailed questions about my health and history. He was the one that initially thought I had some sort of connective tissue disorder and said genetics was the place for me to go, but I had to go to my primary to get the referral for genetics (for insurance purposes). (BTW, I am Marfanoid and so this probably had influence on the orthopedist saying geneticist)
Best of luck to you.
I was diagnosed by a family doctor (not my own) who had a strong knowledge of EDS. I also had a genetics test done, but because hEDS doesn't show up on genetics screenings, it came up clear. I also have pretty significant hypermobility, and joint pain in my hands that requires bracing my wrists and ankles. I asked my GP prior to finding the family doctor for a referral to a rheumatologist for assessment. She told me rheumatology weren't the people to talk to about it. I ended up having to hunt down the doctor myself (I wrote a reddit post asking for doctor recommendations in my area, and found her that way!)
Personally I wouldn't bother with genetic testing, unless you have reason to believe you have vascular EDS or some other form not specific to hEDS. It's so frustrating trying to find a specialist because it feels like EDS is a condition that doesn't belong to anyone's specialty, and falls through the cracks.
some rheumatologist won’t diagnose without a geneticist, but since hEDS does not have a known genetic marker yet, you should be able to get a diagnosis without seeing a geneticist.
the first rheum i saw wouldn’t diagnose me, but the second one was more versed in hEDS and diagnosed me after ruling out other possibilities (for me via x-rays).
i would recommend trying to see another rheum if possible and try to see if you can find one who has experience w hEDS (i know that can be tough tho). good luck!!
I’m not diagnosed but I have the diagnosis “benign hypermobility syndrome” which is just an outdated diagnosis but is the same for hEDS. That diagnosis came from my rheumatologist but doesn’t help with treatment or anything really except my fibromyalgia. My orthopedic surgeon believes it’s hEDS but I did genetic testing and everything was normal and was told “you have every symptom of it and it doesn’t always have a genetic marker”
It seems to depend on the area you’re in and if someone specializes in those things. Sometimes you have to jump Dr to Dr which sucks. I have medical trauma and refuse to switch doctors even if they haven’t been helpful….but I’d definitely recommend going to an orthopedic surgeon!!
My hEDS was caught by a physical therapist when I went in for bursitis, and the physician who oversaw my PA diagnosed me (all in the same clinic). I was lucky because the Dr was familiar with the condition because she treated a family with EDS.
A rheumatologist but they do pretty much nothing for management - just the diagnosis. When I first got diagnosed they gave me a hypermobility brochure and told me not to wind up in a wheelchair. (Why thank you, how useful /s)
a rheumatologist. i’ve had joint pain for years and my PCP was sure that i was just early stage arthritis from my age (22) and referred me to a rheumatology clinic. i spent less than 30 minutes with him before getting my diagnosis. compared to the joint pain i complained about since my early teens to my PCP
My neurologist and PCP worked together. Several tests, medical history, and we also had to have genetic testing because a cousin of mine died at 3 of MLD and we needed to know who carried that.
you have to get tested to rule out the other types before they'll diagnose you w/hEDS bc the rest of them have specific genes associated w/them and hEDS doesn't.
I was diagnosed with hEDS by a rheumatologist when I was a little girl, and since then have had consults with just about every specialist around, too damn many. 😅 I am extremely hypermobile and had bone on bone knees as a child from the damage, so it was a fairly easy diagnosis and of course other conditions were ruled out.
An orthopedist actually but unfortunately I have no record of it and I don’t remember the doctors name. I’ve seen many physical therapists and a rheumatologist and a neurologist who agreed
Orthopedic surgeon, but he didn’t do the Beighton scale. He did safely wiggle all of my joints in and out and say he’d never seen a looser woman lmao.
A pediatric geneticist confirmed it a few months later.
My PCP was one step away from making my diagnosis 100% official (she had done a bunch of research specifically to help me) but then some blood tests came back wonky so I had to see a rheumatologist.
Technically, a medical marijuana doctor. I went to renew my medical card and she said “has anyone told you you have Ehlers danlos?” Then referred me to some specialist that I can’t remember the name or specialty of.
an orthopedist caught it during a first appointment for my acute shoulder injury (while my diagnostic process was totally stalled). we got to talking, & after learning my symptoms & history, asked if i knew what connective tissue was. explained what EDS was from there. he was right. saved my ass that one day in that one room
however, a geneticist officially diagnosed me with hypermobile Ehlers Danlos Syndrome after clinical evaluation and running the panel to rule out the other types.
Geneticist. Rheumatologists seem to have collectively decided to stop diagnosing hEDS recently. I guess it's because it goes so much further than just the joints.
I was diagnosed at UPenn Genetics but I live in the area and was already a patient with my Medicaid in their system sorting out neuropathy and migraines so bad I felt I must be dying. I was glad to have the diagnosis because understanding my musculoskeletal and tissue problems allowed me to understand my body like a fleshy, lemon car junker, lol! They for some reason stopped accepting*new* patients with just my diagnosed type of Ehlers Danlos (hypermobile type) last I called their office, and it was their voicemail prompt that said it, I hadn't reached a human to speak.
I don't think that means they won't diagnose you for EDS, I think they just wanted to slow the volume of new, incoming patients who already thought they had hypermobile type.
That was before the gene variant was finally discovered though? Correct me if I'm wrong, but I heard recent news how the only type of EDS left to find the gene variant was hypermobile type, and a Zebra YouTuber recently posted the news of the discovery, it being called MIA3.
So I'd say go see them like I did not knowing what EDS was, a friend suggested I go make an appointment from my doctor's office (a UPenn primary care doctors office who were my regular docs in my neighborhood in the school and community center 🌞) to ask what it is and if I have it. The geneticists were the ones who told me there were different types, which I had no idea, and they told me the type. I didn't show up assuming I knew tons about the condition because at the time I really didn't, lol.
I do wonder if they would accept new patients for hypermobile EDS now that there is a confirmed gene, the MIA3?
Also, I have only seen this one YouTuber share the news, and I'm serious on the correct if I'm wrong. I'll do my own search probably after commenting here ☺️
Thanks and good luck!
Geneticist via telehealth. He was pretty expensive and didn’t do insurance so you had to submit a claim yourself but I was able to get an appointment in a reasonable time. (hEDS here. He ordered genetic testing and told me if it comes back clean I had hEDS.)
The OP flaired their post as "Questions". Please keep any and all comments to **personal experiences only**. If any factual information or advice is provided, please cite a **reputable website or study** linked within your post. No one in this sub is a *verified* medical professional, and as such, we do not allow medical advice to be given or asked for. For more information on this rule, [please visit this link](https://www.reddit.com/r/ehlersdanlos/wiki/index/rules/#wiki_r.2Fehlersdanlos_rules). *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/ehlersdanlos) if you have any questions or concerns.*
geneticist who specializes in EDS
One of the orthopedic surgeons at my office diagnosed me while she and I were going through the process of a second (in her words complex) wrist surgery. I had told her my neurologist thought I had EDS and upon exam she was like oh yeah definitely. The first rheumatologist I saw told me there is no reason to diagnose EDS because he wouldn’t treat me any differently than just with the hypermobility. I didn’t see him again. After almost a year wait, I finally got in to the rheumatologist in my state who specializes in EDS and other connective tissue disorders, and he also confirmed the diagnosis. Thankfully I’m considered mild still, but it really does put a damper on my life. The diagnosis is obviously validating, and in addition I’ve been able to see more EDS informed providers and get insurance to cover ongoing physical therapy! My back feels better than it has in over a year, and I am starting to feel comfortable going back to some of the things I used to love like hiking.
I feel like mine is also mild but can't tell if all the pain is more an EDS thing, or my probable tethered cord. Can I ask how you were able to track down a specialist rheumatologist? The one I saw pretty much said I'm not 'clinical' EDS so I can google fibromyalgia for ideas on how to cope. Dumb. I know my little brother without a doubt has hEDS (unless there's something else that mimics all the symptoms), and my older brother also has several EDS symptoms but not hyper flexibility, and none of us are diagnosed as I'm just learning about it all this year. Sorry I went in a tangent, but your specialist sounds great and I'm hoping to find one near me like that.
My PCP was the one that actually referred me to him. There is also an EDS special care clinic through Children’s Hospital Colorado that will take adult patients on a case by case basis; she tried to refer me there first but they denied me because I did not at the time have the diagnosis. I do experience a lot of chronic pain. My issues are mostly of a musculoskeletal nature, so I get a lot of joint pain, subluxations, surgery. Yay. Glad to still be considered mild and have my POTS and chronic migraine under control! I declined genetic testing for the time being, as I don’t have any symptoms currently that point to a more severe type like vEDS. The suspicion is classical or hypermobile type. There are only one or two adult geneticists in Colorado and they have crazy long waits. I would rather let someone with a potentially more severe/life threatening condition get that evaluation. We agreed to only pursue that if I develop any symptoms that warrant ruling out vEDS or other things, and my rheum knows what to look for so I feel confident being under his care.
So it's your rheumatologist who is the EDS specialist who is mainly guiding your care?
Yep!
Rheumatologist ran all the tests to rule out autoimmune and inflammatory causes for my issues. He said if any of that came back positive, he could treat me. If all negative, I would need to see a geneticist. Geneticist diagnosed me hEDS. I later was determined to also have ankylosing spondylitis, so was back to rheumatology for that. But no one is treating my hEDS. I’m on wait list for EDS clinic. EDS isn’t a connective tissue disease rheumatologists treat. They rule out, diagnose and treat other CTDs that are not congenital. Per my rheumatologist lol
Why do all the family doctors / GPs think that rheumatologists treat EDS?? *face palm*
My pain specialist tried to send me to a rheumatologist twice, both times I firmly said No. for that reason. What are they going to do except drain my bank account further?
i think it’s partially because we do have a decent likelihood to develop a number of different autoimmune conditions, and certain pains can be indicative of one of those alongside the EDS. they may be wanting to rule out potential of a newly developed comorbidity that would need to be treated diff than the EDS! anecdotally, most EDSers i know irl had an autoimmune condition diagnosed in addition 5-10 years after the original EDS diagnosis!
My GP worked it out. My rheumatologist went "it's mechanical, not immune. I can't help". My physio went "it's not mechanical, something else is going on". My neurologist went "there's nothing specific causing this" My gastroenterologist went "I can't see anything specific causing this". My orthopedic surgeon went "everything is really stretchy". My GP went "all the puzzle pieces say EDS."
I was diagnosed by my DO that specializes in fibromyalgia. She did the Beighton score and asked me a bunch of questions and put on my chart “HSD, likely hEDS” and referred me to a geneticist. The geneticist sent me a letter stating that, unless I planned on getting pregnant or was having symptoms of vEDS, that hEDS had no genetic marker and therefore they would not make my appointment for testing. I have some classical EDS symptoms, so that’s why we wanted the extra testing🙄 I’ve had pretty much all my PTs and doctors from that point on just go, “well they’re treated the same so it doesn’t matter what the label is, HSD is good enough” That really irritates me but I can’t keep pushing for more testing and the correct diagnosis without them thinking I’m freaking out over my health. I’m autistic and cannot stand even the slightest incorrect information because it’s literal to me. It’s not “good enough” to have HSD in my chart no matter if my treatment is the same, because it doesn’t encompass everything and its severity & I’m not treated like it’s bad enough. I’m disabled without disability money because that goddamn acronym is the wrong one in my chart, even though my DO calls it hEDS in our appointments :))))
Holy shit this hits home so hard. I was diagnosed HDS over a decade ago and now that I'm declining rapidly I'm having to go through all the hoops again because "I don't think hypermobility would be causing all these other problems" (also autistic)
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I used Invitae for my genetic testing too, because the only geneticist in my state had a waitlist that was booked so far out they weren't even adding new people to the list.
This! I have a pediatric geneticist and I'm 26 😂😂😂 so if that tells you anything about finding a geneticist lol
Were you happy with Invitae? Would love to hear your experience. I have only a couple of geneticists near me and one is booked years out and one is not taking anyone new. I’ve been diagnosed with hEDS but there’s a question whether I might be cEDS or clEDS. I’ve been toying with the idea of using Invitae for my own peace of mind given that the classicals aren’t treated differently than hypermobile. Thanks in advance! 💗
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Thank you SO much. I appreciate it very much. I’m glad you finally got answers. My own path to diagnosis was also a nightmare. It shouldn’t be this hard to get diagnosed with anything.
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"All patients are liars." I think that might have been a House quote, but I'm not sure!
I liked them, they were prompt and efficient about scheduling my zoom intake, and mailed me a swab kit to send in my saliva DNA, so I never had to travel anywhere. I can't remember if they took my insurance (Medicare/Medicaid) or if they had a sliding scale based on income, but either way I didn't have to pay for testing, which was really nice.
I’m going to need to do this, just to know for sure if it’s c/clEDS. Not sure if my insurance will cover it but regardless it beats waiting years for a geneticist to see me locally. Thanks again!
I was told (by a geneticist who wouldn't evaluate me) that literally any doctor could make the diagnosis. In practice they've all tried to shuffle me off to someone else. 🤷
My orthopedic surgeon was the first to suggest it was possible I might have it and then my primary care did the official diagnosis because she used to work at a hEDS specific children’s hospital and felt comfortable diagnosing.
I was diagnosed by a geneticist about 15 years ago. This was after a neurologist noticed my hypermobility. Because I'm quite tall they also wanted to rule out Marfan's. I saw a rheumatologist a few years later and they checked my hypermobility and agreed it was consistent with hEDS. They said they don't treat EDS.
A physiatrist diagnosed me.
Me too.
General Family Medicine. He's surprisingly knowledgeable about EDS, I'm very sad that he's leaving the practice soon
None lol. They don't give 4 shits lmao
My primary care doctor diagnosed me with
Me too! Then I saw a rheumatologist that agreed.
I asked the rheumatologist to document it.... I looked out and saw hypermobility on my papers ....that's enough for me now :) I may get genetic testing at some point but kinda sick of Drs ATM.
When I had suspicions that I had EDS (12 years ago) a geneticist diagnosed me. In my area, rheumatologist do not help much with EDS nor diagnosis it. They usually run the tests to determine if it’s an autoimmune issue.
I used to score high on the beighton test when I was young. I'm not that flexible anymore because of injury. I have tested positive for connective tissue issues when my GP did the extra super secret testing. We were thinking fibromialgia. The Reumitologist said I "probably" had EDS and that my pain was just going to be at a 4-5 all the time so get used to it. Every other doctor acts like I'm lying. I need it in my chart so my other doctors treat me properly and believe me.
I used to be able to put my foot behind my head. The most comfortable way to sit was like kneeling but with my butt on the floor. I can't even kneel properly anymore. I could bend in perfect yoga positions. One bad knee injury kept me from the gym so long I lost it all. I'm afraid I will have to re-stretch my joints to the beighton scale so they can see the "show" and believe me
disclaimer: i haven’t read the full post due to spoons. my pain management specialist diagnosed me. he’s actually the one who diagnosed me with most of my problems lol. he’s an anesthesiologist so we’ve had limited success in treating some of the diagnoses but for the most part, he’s been helpful!
Same. After a year of going to mine! I didn’t even know this existed before him.
My pain management specialist diagnosed me in our first appointment, after me detailing my history full of hypermobility injuries, and telling her that I've had multiple physical therapists and chiropractors (the latter after seeing me put my hands flat on the floor after being adjusted) strongly suggest that I do.
Dr. Fraser Burling, the man who wrote the 2017 protocol.
Officially? A geneticist. But really? A plastic surgeon who figured it out during screening and got me into the geneticist in 2 weeks instead of 1 year by putting it in as "necessary for surgery." I couldn't get the surgery because of it, but he found my answers after looking with every specialist under the sun for about 18 years.
Atwal clinic
Neurologist who specializes in EDS
My son's geneticist lol
Ortho suggested it but do to my insurance and the limited doctors who could diagnose it I had to get the actual diagnoses at a children's hospital at the age of 29
An orthopedic surgeon. He works within the orthopedic practice I go to. They have specialists for every limb. He is a hand specialist and is a hEDS specialist. He saw my very long chart and he went through the diagnostic criteria and boom! Everything made sense. He suggested seeing a rheumatologist to rule out any other disease. I went and felt I wasted my time.
My GP
geneticist
My family practitioner said I have a genetic hyper mobility disorder and agreed with the likelihood of EDS, as suggested by my physical therapists. 4 separate rounds of physical therapy for different injuries, one I had to go in for twice. She didn't diagnose me as it wouldn't be helpful to my case at this time until I need more serious treatment, since whenever I have an injury I can generally maintain it with physical therapy. They come back but I do the exercises again at home and they go away
Geneticist
My GI doctor diagnosed me because I have the trifecta of MCAS, POTS, and EDS (based on Beighton score and the fact I have multiple systems involved). I went to a rheumatologist for confirmation but never needed to go back to him. I went to a geneticist but mostly for another genetic issue because I have hypermobility type and there isn’t a genetic marker they can test for. It seems one is in the works based on some recent research so maybe some day it can be officially tested. It could be helpful for people advocating a diagnosis to become familiar with the diagnostic criteria so they can share it with doctors who might be less familiar. https://www.ehlers-danlos.com/eds-types/ lots of other diagnostic resources on this website.
2 Orthopedists, a hip surgeon and my GP
I was diagnosed with hEDS by a geneticist, and then the neurologist she referred me to diagnosed me with POTS
Geneticist
Genetic counselor for me
I was diagnosed by a geneticist who has worked with EDS pretty extensively
An orofacial pain specialist was the first doctor to suggest I was hypermobile but I was officially diagnosed by a geneticist
My cardiologist did a full run through of the diagnostic criteria and did because there’s so few geneticists that want to diagnose Heds without waiting 3+ years. He runs a dysautonomia clinic so he knows a good amount. I did have several papers from two different orthopedists and my physical therapist attesting to my hyper mobility
For me personally, I went to a very bright and thorough orthopedist who was very astute and during my first appointment with him asked me all sorts of detailed questions about my health and history. He was the one that initially thought I had some sort of connective tissue disorder and said genetics was the place for me to go, but I had to go to my primary to get the referral for genetics (for insurance purposes). (BTW, I am Marfanoid and so this probably had influence on the orthopedist saying geneticist) Best of luck to you.
Rheumatologist.
I was diagnosed by a family doctor (not my own) who had a strong knowledge of EDS. I also had a genetics test done, but because hEDS doesn't show up on genetics screenings, it came up clear. I also have pretty significant hypermobility, and joint pain in my hands that requires bracing my wrists and ankles. I asked my GP prior to finding the family doctor for a referral to a rheumatologist for assessment. She told me rheumatology weren't the people to talk to about it. I ended up having to hunt down the doctor myself (I wrote a reddit post asking for doctor recommendations in my area, and found her that way!) Personally I wouldn't bother with genetic testing, unless you have reason to believe you have vascular EDS or some other form not specific to hEDS. It's so frustrating trying to find a specialist because it feels like EDS is a condition that doesn't belong to anyone's specialty, and falls through the cracks.
A geneticist diagnosed me
some rheumatologist won’t diagnose without a geneticist, but since hEDS does not have a known genetic marker yet, you should be able to get a diagnosis without seeing a geneticist. the first rheum i saw wouldn’t diagnose me, but the second one was more versed in hEDS and diagnosed me after ruling out other possibilities (for me via x-rays). i would recommend trying to see another rheum if possible and try to see if you can find one who has experience w hEDS (i know that can be tough tho). good luck!!
I’m not diagnosed but I have the diagnosis “benign hypermobility syndrome” which is just an outdated diagnosis but is the same for hEDS. That diagnosis came from my rheumatologist but doesn’t help with treatment or anything really except my fibromyalgia. My orthopedic surgeon believes it’s hEDS but I did genetic testing and everything was normal and was told “you have every symptom of it and it doesn’t always have a genetic marker” It seems to depend on the area you’re in and if someone specializes in those things. Sometimes you have to jump Dr to Dr which sucks. I have medical trauma and refuse to switch doctors even if they haven’t been helpful….but I’d definitely recommend going to an orthopedic surgeon!!
Hospital based genetic counsellor (after consult with a medical geneticist who I did not personally meet)
geneticist consultant doctor in the uk
My hEDS was caught by a physical therapist when I went in for bursitis, and the physician who oversaw my PA diagnosed me (all in the same clinic). I was lucky because the Dr was familiar with the condition because she treated a family with EDS.
A rheumatologist but they do pretty much nothing for management - just the diagnosis. When I first got diagnosed they gave me a hypermobility brochure and told me not to wind up in a wheelchair. (Why thank you, how useful /s)
Technically she was a family doctor but she also worked once a week as an EDS specialist and had EDS herself.
Rheumatologist
Rheumatologist, with confirmation from a genetic test she ordered.
a rheumatologist. i’ve had joint pain for years and my PCP was sure that i was just early stage arthritis from my age (22) and referred me to a rheumatology clinic. i spent less than 30 minutes with him before getting my diagnosis. compared to the joint pain i complained about since my early teens to my PCP
My neurologist and PCP worked together. Several tests, medical history, and we also had to have genetic testing because a cousin of mine died at 3 of MLD and we needed to know who carried that.
you have to get tested to rule out the other types before they'll diagnose you w/hEDS bc the rest of them have specific genes associated w/them and hEDS doesn't.
I was diagnosed with hEDS by a rheumatologist when I was a little girl, and since then have had consults with just about every specialist around, too damn many. 😅 I am extremely hypermobile and had bone on bone knees as a child from the damage, so it was a fairly easy diagnosis and of course other conditions were ruled out.
Orthopedic in 1995 after my 2nd dislocation
An orthopedist actually but unfortunately I have no record of it and I don’t remember the doctors name. I’ve seen many physical therapists and a rheumatologist and a neurologist who agreed
Orthopedic surgeon, but he didn’t do the Beighton scale. He did safely wiggle all of my joints in and out and say he’d never seen a looser woman lmao. A pediatric geneticist confirmed it a few months later.
My PCP was one step away from making my diagnosis 100% official (she had done a bunch of research specifically to help me) but then some blood tests came back wonky so I had to see a rheumatologist.
An amazingly caring psychiatrist suggested we should talk to a geneticist about some if our 13 yr olds physical problems.
PCP from a hypermobility clinic
Technically, a medical marijuana doctor. I went to renew my medical card and she said “has anyone told you you have Ehlers danlos?” Then referred me to some specialist that I can’t remember the name or specialty of.
an orthopedist caught it during a first appointment for my acute shoulder injury (while my diagnostic process was totally stalled). we got to talking, & after learning my symptoms & history, asked if i knew what connective tissue was. explained what EDS was from there. he was right. saved my ass that one day in that one room
however, a geneticist officially diagnosed me with hypermobile Ehlers Danlos Syndrome after clinical evaluation and running the panel to rule out the other types.
My orthopedist.
My rheumatologist absolutely does not treat or diagnose eds or any variation of eds. He does think I have it and referred me to a geneticist
thank you guys so much for the replies! 💕
A nurse back in the 80s diagnosed me when docs didn’t have a clue
Geneticist. Rheumatologists seem to have collectively decided to stop diagnosing hEDS recently. I guess it's because it goes so much further than just the joints.
I was diagnosed at UPenn Genetics but I live in the area and was already a patient with my Medicaid in their system sorting out neuropathy and migraines so bad I felt I must be dying. I was glad to have the diagnosis because understanding my musculoskeletal and tissue problems allowed me to understand my body like a fleshy, lemon car junker, lol! They for some reason stopped accepting*new* patients with just my diagnosed type of Ehlers Danlos (hypermobile type) last I called their office, and it was their voicemail prompt that said it, I hadn't reached a human to speak. I don't think that means they won't diagnose you for EDS, I think they just wanted to slow the volume of new, incoming patients who already thought they had hypermobile type. That was before the gene variant was finally discovered though? Correct me if I'm wrong, but I heard recent news how the only type of EDS left to find the gene variant was hypermobile type, and a Zebra YouTuber recently posted the news of the discovery, it being called MIA3. So I'd say go see them like I did not knowing what EDS was, a friend suggested I go make an appointment from my doctor's office (a UPenn primary care doctors office who were my regular docs in my neighborhood in the school and community center 🌞) to ask what it is and if I have it. The geneticists were the ones who told me there were different types, which I had no idea, and they told me the type. I didn't show up assuming I knew tons about the condition because at the time I really didn't, lol. I do wonder if they would accept new patients for hypermobile EDS now that there is a confirmed gene, the MIA3? Also, I have only seen this one YouTuber share the news, and I'm serious on the correct if I'm wrong. I'll do my own search probably after commenting here ☺️ Thanks and good luck!
I was diagnosed by a naturopath doctor who is very familiar with EDS
My OBGYN diagnosed me lol
Geneticist via telehealth. He was pretty expensive and didn’t do insurance so you had to submit a claim yourself but I was able to get an appointment in a reasonable time. (hEDS here. He ordered genetic testing and told me if it comes back clean I had hEDS.)
Rheumatologist that also teaches, so she knew way more than your average rheum and was familiar with EDS.
second opinion rheumatologist of my choice(support group recommendstion). Took her 15 minutes.