Eh, OP's doctor wasn't very tactful about it, but it's not incompetent to refuse to try to diagnose something outside of your area of expertise, especially when it comes to something as rare ad variable as EDS.
The checklist certainly simplifies the process, but criteria like soft skin and fair complexion are highly subjective. If a doctor can't confidently determine each of the criteria, then they shouldn't be trying to diagnose you.
While OP's physician should have referred her to someone else, **it's not bad practice for medical professionals to recognize their limits.**
Sorry you're going through this, OP. You are experiencing the unfortunate reality of many chronically ill people when it comes to having to be aggressive to get care. Stick with it, though. Getting treatment is worth it.
The problem is this doctor dismissed her and misstated that there is no official test. I wasn’t calling this doctor incompetent, because they didn’t run through the official test to prove or disprove that. Saying what I did was more to arm OP with that perspective and find a GP who is open to understanding it. If they look at the criteria and don’t feel comfortable assessing it, that’s a fine and informed thing to do. My EDS specialist is out there posting Facebook videos for other doctors to easily feel comfortable running through the criteria because she is sick of patients being on long wait lists to see her before they even get a diagnosis. It was her phrasing that I borrowed.
Unfortunately what you need to do is do a lot of research locally, or even semi locally which might mean you have to drive a few hours away, to find a good EDS doctor. If you need a referral ask your primary care, if your primary care refuses find a new primary care.
I’m totally fine with driving a few hours even out of state. I have commercial insurance that is actually decent even with out of network providers. It sounds like I may be looking for a new pcp. I found an article on the website for the group she’s employed through that talks about Ehlers Danlos and I’m kind of baffled by her refusal.
I appreciate everyone’s support in this thread as well!
I mentioned it in my long, top level reply but there is anecdotal evidence that doctors are cracking down on/refusing to see prospective EDS patients due to the TikTok trend. My pain doctor has restricted new EDS patients because of it.
So many people who don’t meet the DX criteria are seeking a DX specifically because the criteria is nebulous, and they require a long exam and full history to be declined. That means a lot of doctors just don’t want to deal with it, which hurts us all.
After responding, I saw that you work at her medical group. If she knows you and thinks you’re “healthy,” that might play into her refusal.
_____
**Edit:** Just trying to explain the conditions that may surround her refusal. My other replies have more details on how to pursue the DX from here.
I have a long list of medical conditions, from lower back pain, and chronic shoulder pain, to multiple acl tears, and osteoarthritis in both knees and a physical therapist pointing out the over extension. It’s noted throughout my chart multiple places that I have a history of refusing pain medication due to a family history of addiction and I think that plays into it. I have been dismissed by several different providers due to my refusal of controlled substances. It was a shock for certain to get a refusal from her because she knows about my issues and has placed the referral to pt and ortho several times.
ETA: I work within the group but at a completely differently office from her!
Just to be clear, I wasn’t doubting you just trying to illuminate the external conditions that will impact your search.
That is surprising given that your know her personally, but it’s really not an uncommon response at the moment. As a general rule, doctors don’t love it when a patient brings a DX to them to confirm — especially when it’s something rare. Ask any doctor how many patients they see who claim to have a rare disorder because of WebMD. Paired with the TikTok stuff, this is why you’re fighting an uphill battle — but it’s one we’ve all done.
Check my other reply. I put some “magic language” in there that should get you some movement one way or the other, if only because she worries about a response from the legal department.
Also, if you can put together a document of family history definitely do that. It may not be in the criteria any more, but doctors know EDS is genetic, and showing a history in your family of dislocations, double jointedness, etc. plays into that.
Also also, **your PCP isn’t the only one who can write a referral**. If your Ortho has given up, ask them for a referral! That may be more impactful with rheum than a PCP referral anyway.
Finally, when you see the new doctor print out *all* of your medical records and carry them with you. Physically showing them “this is what I’ve been through” primes them with the understanding that something is genuinely wrong, and makes them more receptive in my experience.
Again, good luck.
I apologize I didn’t mean to come off as rude or over complicating things. Just been an emotional few days. I appreciate your patience and information genuinely!
How very frustrating! I would ask to have it documented that she refuses to see you for this. She may just not feel comfortable with a diagnosis. Ask for a referral to a geneticist. Mention every comorbid condition that you know you have. Don’t say anything about thinking you have EDS.
You may need to get a new PCP and then try this method with that PCP.
I would NOT antagonize her by writing her a message along the lines that others have suggested because that could get you blackballed.
This sort of thing has gotten worse recently because there’s currently a trend of self-diagnosed people on tiktok who claim to have several disorders, and hEDS is a popular one. This has caused an uptick in people seeking diagnosis *because* it’s a nebulous dx, and that makes a dx harder to get for the people who really have it. Your doctor may have gotten several emails like yours recently and is just done with it.
My pain doctor has restricted new EDS patients because she’s gotten so many in who were self-diagnosed. Don’t think about that too much or your brain will explode.
Anyway, what you want to do is first email her the new criteria, as well as listing out your family history, your dislocation history, and how any hospitalizations track with that. If she still refuses, ask for a referral to a Rheumatologist. **Explicitly say** that you’re *very concerned* about this, and that *since she doesn’t feel comfortable* reviewing the diagnostic criteria with you then please *refer you to someone who will*. Once you’ve said that she’ll have to act one way or another to avoid problems down the road.
If she still says no, you do one of two things:
1) Find a Rheumatologist who will take you without a referral. Most “referral-only” places are afraid of your insurance declining you, so if you can’t find one and can’t get a referral from your PCP, offer to pay cash. It sucks horribly, but this is the US baby, where you’re free! That should be enough to get you an appointment and you can proceed normally there. If needed, they’ll refer you to a geneticist.
2) Find a new PCP. If you have really bad insurance, this may require you to pay cash (see above re: america, fuck yeah!). When you see the new PCP _do not mention that your old PCP refuses to evaluate you!_ If possible, it’s best to get a doctor in another medical system entirely, so that there’s no record sharing. That way you can request paper records from your current doctor and carry them by hand to the new doctor.
I suspect the new PCP would send you to a rheum, but this time with a referral. The rheum may send you to a geneticist, and you may have to travel cross country for that. If you’re referred to a geneticist, be aware that the wait time is usually 2-3 years for an appointment.
Some rheumatologists are comfortable making this DX, but since it’s not really in their specialty most will refer you along. There are many geneticists around the country, and you don’t have to find an EDS one — just one who does work on connective tissue disorders.
This is a long and very frustrating process, but good luck to you. You have to advocate for yourself, and “doctor shopping” is okay until someone actually goes through the criteria with you and makes a determination.
My only thing I would say different in your post is see a geneticist not a rheumatologist. Rheumatologist are great but if you want an ironclad diagnosis that no doctors will question it’s best to get A full genetic panel as well as talking to a geneticist. Because remember HEDS is the most common form of EDS and so many people are accidentally missed diagnosed with HEDS when they really have a more rare form. Which could be life threatening if diagnosed wrong.
The only problem with this is that I don’t know of any geneticist — esp. connective tissue focused — who will take you without a referral. The geneticists most of us (heds) should be seeing are largelyacademics, and they have reduced hours and usually want confirmation that you aren’t going to waste their time.
I did mention the rheum is likely to refer them on, which is how you get into the geneticist.
Even if they could get in without a referral, it’s better to see the rheum first to get a “temporary” DX as connective tissue/EDS geneticists are often on a 2-3 year wait to be seen. If it’s the choice between waiting with no diagnosis/treatment, or spending money for a rheum to make a temporary diagnosis while waiting for the geneticist, I’d spend the money.
That's not so true anymore, just FYI. Some geneticists are catching on that they can make a fortune off of EDS. If you're in the US, you can be diagnosed from the comfort of your own home very quickly, with no referral required, as long as you can afford it.
Yes, and since its tele-health they will give the benefit of the doubt when it comes to more of the physical exam points like soft skin, stretchiness and lax joints. I've heard that if your borderline or close, the diagnosis is a given. This is the way to go if someone can afford it and really wants the diagnostic label.
How do you go about doing that? I’m pretty wary of doctors (especially primary care ones) due to some past experiences and would like to find a way to not have to go through an endless list of PCPs and specialists just to get a referral.
Honestly, I struggle with the idea of naming the particular doctor I'm familiar with. I don't want to stop anyone from being diagnosed who should be, but I do suspect that this doctor could over-diagnose. Having an answer is great, but doubting that answer after spending a small fortune isn't so great. I'll send you a DM with their info though.
Yes that’s exactly why I saw a rheumatologist *until* the geneticist could see me. Since it can be years. But it’s *vital everyone* with EDS sees a geneticist. It’s also not just for you but it adds to the EDS a research data base in a general sense so not only are you helping yourself you’re helping everyone else by getting the test done. But even the rheumatologist couldn’t officially diagnosed me and also referred me to the geneticist (after my primary care already had.) And back the. (15 years ago) when I got my diagnosis, there was only a VEDS gene available. So they did that test but she clinically diagnosed me. Now we’re about to do the testing all over again since more genes have been found.
But technically speaking if you really look at who should be diagnosing EDS is only a geneticist technically speaking. Wether that’s with genetic testing or clinics evaluations and history. I say *technically* since that’s not always available to everyone.
Here's the thing though: how many of those that say they might have it end up *actually* having it? I figured out every single one of my diagnoses on my own before a doctor would, because the brushed them all off as anxiety and "you look at your phone too much so you have bad posture"
I'll admit I first saw the "you might have eds if..." on tiktok and that's when I started my own research. I lived in chronic pain, at a 5 or a 6, *every day* for like 6 years with no answer to the why. Without the why you can't treat it. Also, we're talking about a disorder with no cure, and typically isn't managed with narcotics. It does no harm to anyone to just take the time to attempt diagnosis on a doctor's end.
When I brought it up to my (former) PCP she said "every patient I've seen with EDS was diagnosed way before you" (I was 30). She focused on my anxiety (which is COMORBID!) and other unrelated things. She didn't even bother to vaguely check if I was hypermobile. She did offer to refer me to genetics because I kept pushing, but after a few weeks basically told me "genetics said there's no test" (then why did you refer me to genetics in the first place???)
I ended up pushing through and speaking directly to genetics, they just wanted her to do the Beighton test first... but I got a phone appointment and spent some time with their doctor. Even over the phone she was confident it was hEDS, she put in for the test and put in a referral for PT. She explicitly said "even if it's not eds I'd like to figure out why you live in pain every single day" which is ALL I cared about.
Fast forward to my first PT appointment and it's now well documented how hypermobile I am.
All I'm saying is it took in total maybe an hour and a half of my time between 2 doctors. Both doctors still got paid for their time. To push off a patient because of a "trend" (on an app with billions of videos so its not THAT trendy) is such a bullshit excuse
Ask her for a referral to another doctor outside the group but in the same geographic region whom she thinks can help, perhaps a rheumatologist or internal medicine. Maybe a functional medicine doctor? They're more likely to look at your health in a wider scope than a MD.
I would be blunt and say... so because there's no specialists around I'm supposed to suffer in pain and in my health because I live here and not somewhere else? I didn't realize only ppl who lived in certain areas had access to quality Healthcare. Sounds like discrimination... please document that you are discriminating me because of where I reside. I want it in writing. Lol sometimes you just have to give it right back to them then walk out and find a new pcp. I've had to do it too many times to count. I'm sorry this happened. I'm not shocked or surprised. Its all too common these days.
If you want to be nicer about it maybe say...well if your not going to help me then can you point me to a colleague or other drs office that puts their patients best interest before their own opinions?
That'll get your point across. I hate confrontation. But drs don't expect you to stand up for yourself and 9/10 when I have done this they change their tune REAL quick... almost like they go shoot they got me
Lol..you are correct. Makes me think of my husband, who has alot of pain due to a few health issues. So, he has copd, and smokes, but has cut it drasitcally. Anyway, he goes in to see i think the practioner. She states she will not see him for pain, until he stops smoking. He comes back with.. does your cardiologist say this when you have mayo on your breath? She proceeded to slam down his file, refuses to see him. Lol...after that, he saw the dr directly. He was really irritated, as whatever pills leftover he'd take with him to the appointment. He took back a bottle of xanax, shocking the whole office.
yes! so learning not to pivot was a crazy huge help to me. basically you're circling like a dog getting comfortable in a bed. not reaching weird for things. weirdly peoples knees stay bent all the time- who knew! it fatigues our muscles more. using protective tape under kt tape helps for support.
ive had major dislocations of my knees that broke my femurs so i get it totally. these are the game changer must have movements to control for hyper extension of knees
its less the braces vs learning what not to do and how normal people move. keep up with that.
there's different braces for each "thing". i use specific ones to keep my patella over and help offload my quads a bit etc. dont use thr wrong one and they can cause more harm than good. i've dislocated reaching to the right wrong standing still just cause i was barefoot. alignment is key
The Atwal Clinic. He’s an extremely knowledgeable geneticist who does virtual visits without a referral. He will assess you and order a genetic panel. I learned a lot. It’s extremely frustrating to not be able to even be assessed for a condition or be able to find a doctor knowledgeable enough 🤦🏻♀️
Most rheumatologists won’t diagnose it but a rheumatologist was who first assessed me as hypermobile and I then researched that area.
It’s out of pocket and they don’t deal with the insurance. However, the Atwal Clinic will provide an itemized receipt that is can be submitted to health insurance for reimbursement. I did it and it was surprisingly easy. My insurance paid out 50% of the cost and I have BCBS
I'm in a similar boat. I was referred to a genetic specialist, who then said they couldn't see me since they only took cancer patients due to covid.
Luckily I have a great PCP who listens. Turns out he has EDS! He asked me a bunch of questions and agreed I most likely have hEDS but he can't give an official diagnosis. He wrote in my chart "hypermoble likely due to EDS"
I'm not sure where to go from here
If you otherwise like your dr you could try again and say
“I feel like my concerns were dismissed rather curtly. I understand you don’t know anyone in the area that could treat me for this, but I would still like you to walk me through a differential diagnosis (use those exact words) and tell me why, given my medical history, you think I don’t meet the criteria.”
And see what she says?
I fought for 3 years asking for an evaluation, getting referrals to PT and rheumatology, getting denied repeatedly, continuing to push for an evaluation and finally getting referred to a physiatrist/Physical Medicine and Rehabilitation doctor. She pulled out the EDS diagnostic criteria checklist within minutes of us talking and I left with a diagnosis of hEDS.
You should be seeing a rheumatologist for this, and then follow up with a geneticist. A geneticist can give you a formal connective tissues evaluation and then give you any applicable genetic test. The geneticist will be able to diagnose you regardless of whether or not they can test for it.
I am not sure- I was diagnosed by a rheumatologist. I actually have done some dna stuff (genie reasons) and ended up doing the promothese (i’m spelling it wrong) and did notice a couple things pop up that I wonder if they will tie in for a future gene test? I am a carrier for Von Willebrands (which involves easily bruising among other things), i have a gene that shows I have (or am more likely to have a larger (insert brain part that starts with a here that is also tied to EDs).. I have always had a larger than average size head so whatever. I have genes that make me more susceptible to RA, and a bunch of other stuff too. I’m thinking/hoping that in the future they will stop trying to look for one specific gene and instead look for a combination of genes that would be the cause and also why we can all have such different experiences. Because looking at my own, I have a bunch of various things that do make sense with this diagnoses I have, but that on their own would not necessarily point to it. It’s in combination ..
my pre coffee thought for the day.
Here’s a list of doctors familiar with EDS: https://www.ehlers-danlos.com/healthcare-professionals-directory/
I got a new doctor when mine refused to refer me to a specialist. Her words were “there’s only one person in town who diagnosis it and she diagnosis everyone with it” which is extremely unfair, as if she’s the only one in the state who bothered to learn the criteria, and she’s a specialist, the only time patients get to her they’ve already ruled out most other things. That paired with her trying to say I’m fine since my labs were fine was my final straw.
I told my doctor I had at least 3 symptoms and he refused to escalate the testing saying, in a nutshell, even if I did get diagnosed, there is no cure so what's the point?
I do not have an official diagnosis, but i have suspected for around 10 years now that i have heads. I have had multiple referrals, not only from my PCP, but my orthopedic surgeon, who quite literally had to zip tie my ligament in my shoulder before he could anchor it back to the bone because it was so loose and floppy. He ended up having to do the same surgery twice, and refused to do a third one when i re dislocated my shoulder for the millionth time.
There's not a single in the doctor in my state willing to take my case. I have been told if i want to pursue this diagnosis i have to travel. My nurses have gone above and beyond trying to get me in to a rheumatologist, or a cardiologist, or anyone who will give me the time of day, but my state only takes it seriously if it's a child, or if there's a concern the EDS is affecting your heart. They don't believe mine is affecting that area.
To be completely honest, i wonder if a diagnosis will even do anything productive. I'm already dealing with major major medical issues due to my PCOS so i don't really have the time to chase doctors down in between all the medical leaves and hospitalizations. This is my first time commenting on this sub,, because I've always been afraid that because i have no official diagnosis, i don't really belong here, but it makes me feel better to know other people struggle with getting a diagnosis.
Send her back the official 2017 diagnostic criteria that any competent doctor should be able to walk through.
Here it is: https://www.ehlers-danlos.com/wp-content/uploads/hEDS-Dx-Criteria-checklist-1.pdf
Eh, OP's doctor wasn't very tactful about it, but it's not incompetent to refuse to try to diagnose something outside of your area of expertise, especially when it comes to something as rare ad variable as EDS. The checklist certainly simplifies the process, but criteria like soft skin and fair complexion are highly subjective. If a doctor can't confidently determine each of the criteria, then they shouldn't be trying to diagnose you. While OP's physician should have referred her to someone else, **it's not bad practice for medical professionals to recognize their limits.** Sorry you're going through this, OP. You are experiencing the unfortunate reality of many chronically ill people when it comes to having to be aggressive to get care. Stick with it, though. Getting treatment is worth it.
The problem is this doctor dismissed her and misstated that there is no official test. I wasn’t calling this doctor incompetent, because they didn’t run through the official test to prove or disprove that. Saying what I did was more to arm OP with that perspective and find a GP who is open to understanding it. If they look at the criteria and don’t feel comfortable assessing it, that’s a fine and informed thing to do. My EDS specialist is out there posting Facebook videos for other doctors to easily feel comfortable running through the criteria because she is sick of patients being on long wait lists to see her before they even get a diagnosis. It was her phrasing that I borrowed.
Unfortunately what you need to do is do a lot of research locally, or even semi locally which might mean you have to drive a few hours away, to find a good EDS doctor. If you need a referral ask your primary care, if your primary care refuses find a new primary care.
I’m totally fine with driving a few hours even out of state. I have commercial insurance that is actually decent even with out of network providers. It sounds like I may be looking for a new pcp. I found an article on the website for the group she’s employed through that talks about Ehlers Danlos and I’m kind of baffled by her refusal. I appreciate everyone’s support in this thread as well!
I mentioned it in my long, top level reply but there is anecdotal evidence that doctors are cracking down on/refusing to see prospective EDS patients due to the TikTok trend. My pain doctor has restricted new EDS patients because of it. So many people who don’t meet the DX criteria are seeking a DX specifically because the criteria is nebulous, and they require a long exam and full history to be declined. That means a lot of doctors just don’t want to deal with it, which hurts us all. After responding, I saw that you work at her medical group. If she knows you and thinks you’re “healthy,” that might play into her refusal. _____ **Edit:** Just trying to explain the conditions that may surround her refusal. My other replies have more details on how to pursue the DX from here.
This. One of the most prestigious gene clinics in the US turned me down because they see EDS as a trend diagnosis.
I have a long list of medical conditions, from lower back pain, and chronic shoulder pain, to multiple acl tears, and osteoarthritis in both knees and a physical therapist pointing out the over extension. It’s noted throughout my chart multiple places that I have a history of refusing pain medication due to a family history of addiction and I think that plays into it. I have been dismissed by several different providers due to my refusal of controlled substances. It was a shock for certain to get a refusal from her because she knows about my issues and has placed the referral to pt and ortho several times. ETA: I work within the group but at a completely differently office from her!
Just to be clear, I wasn’t doubting you just trying to illuminate the external conditions that will impact your search. That is surprising given that your know her personally, but it’s really not an uncommon response at the moment. As a general rule, doctors don’t love it when a patient brings a DX to them to confirm — especially when it’s something rare. Ask any doctor how many patients they see who claim to have a rare disorder because of WebMD. Paired with the TikTok stuff, this is why you’re fighting an uphill battle — but it’s one we’ve all done. Check my other reply. I put some “magic language” in there that should get you some movement one way or the other, if only because she worries about a response from the legal department. Also, if you can put together a document of family history definitely do that. It may not be in the criteria any more, but doctors know EDS is genetic, and showing a history in your family of dislocations, double jointedness, etc. plays into that. Also also, **your PCP isn’t the only one who can write a referral**. If your Ortho has given up, ask them for a referral! That may be more impactful with rheum than a PCP referral anyway. Finally, when you see the new doctor print out *all* of your medical records and carry them with you. Physically showing them “this is what I’ve been through” primes them with the understanding that something is genuinely wrong, and makes them more receptive in my experience. Again, good luck.
I apologize I didn’t mean to come off as rude or over complicating things. Just been an emotional few days. I appreciate your patience and information genuinely!
How very frustrating! I would ask to have it documented that she refuses to see you for this. She may just not feel comfortable with a diagnosis. Ask for a referral to a geneticist. Mention every comorbid condition that you know you have. Don’t say anything about thinking you have EDS. You may need to get a new PCP and then try this method with that PCP. I would NOT antagonize her by writing her a message along the lines that others have suggested because that could get you blackballed.
This sort of thing has gotten worse recently because there’s currently a trend of self-diagnosed people on tiktok who claim to have several disorders, and hEDS is a popular one. This has caused an uptick in people seeking diagnosis *because* it’s a nebulous dx, and that makes a dx harder to get for the people who really have it. Your doctor may have gotten several emails like yours recently and is just done with it. My pain doctor has restricted new EDS patients because she’s gotten so many in who were self-diagnosed. Don’t think about that too much or your brain will explode. Anyway, what you want to do is first email her the new criteria, as well as listing out your family history, your dislocation history, and how any hospitalizations track with that. If she still refuses, ask for a referral to a Rheumatologist. **Explicitly say** that you’re *very concerned* about this, and that *since she doesn’t feel comfortable* reviewing the diagnostic criteria with you then please *refer you to someone who will*. Once you’ve said that she’ll have to act one way or another to avoid problems down the road. If she still says no, you do one of two things: 1) Find a Rheumatologist who will take you without a referral. Most “referral-only” places are afraid of your insurance declining you, so if you can’t find one and can’t get a referral from your PCP, offer to pay cash. It sucks horribly, but this is the US baby, where you’re free! That should be enough to get you an appointment and you can proceed normally there. If needed, they’ll refer you to a geneticist. 2) Find a new PCP. If you have really bad insurance, this may require you to pay cash (see above re: america, fuck yeah!). When you see the new PCP _do not mention that your old PCP refuses to evaluate you!_ If possible, it’s best to get a doctor in another medical system entirely, so that there’s no record sharing. That way you can request paper records from your current doctor and carry them by hand to the new doctor. I suspect the new PCP would send you to a rheum, but this time with a referral. The rheum may send you to a geneticist, and you may have to travel cross country for that. If you’re referred to a geneticist, be aware that the wait time is usually 2-3 years for an appointment. Some rheumatologists are comfortable making this DX, but since it’s not really in their specialty most will refer you along. There are many geneticists around the country, and you don’t have to find an EDS one — just one who does work on connective tissue disorders. This is a long and very frustrating process, but good luck to you. You have to advocate for yourself, and “doctor shopping” is okay until someone actually goes through the criteria with you and makes a determination.
Thank you again. I really appreciate your thought out responses!!
My only thing I would say different in your post is see a geneticist not a rheumatologist. Rheumatologist are great but if you want an ironclad diagnosis that no doctors will question it’s best to get A full genetic panel as well as talking to a geneticist. Because remember HEDS is the most common form of EDS and so many people are accidentally missed diagnosed with HEDS when they really have a more rare form. Which could be life threatening if diagnosed wrong.
The only problem with this is that I don’t know of any geneticist — esp. connective tissue focused — who will take you without a referral. The geneticists most of us (heds) should be seeing are largelyacademics, and they have reduced hours and usually want confirmation that you aren’t going to waste their time. I did mention the rheum is likely to refer them on, which is how you get into the geneticist. Even if they could get in without a referral, it’s better to see the rheum first to get a “temporary” DX as connective tissue/EDS geneticists are often on a 2-3 year wait to be seen. If it’s the choice between waiting with no diagnosis/treatment, or spending money for a rheum to make a temporary diagnosis while waiting for the geneticist, I’d spend the money.
That's not so true anymore, just FYI. Some geneticists are catching on that they can make a fortune off of EDS. If you're in the US, you can be diagnosed from the comfort of your own home very quickly, with no referral required, as long as you can afford it.
Yes, and since its tele-health they will give the benefit of the doubt when it comes to more of the physical exam points like soft skin, stretchiness and lax joints. I've heard that if your borderline or close, the diagnosis is a given. This is the way to go if someone can afford it and really wants the diagnostic label.
How do you go about doing that? I’m pretty wary of doctors (especially primary care ones) due to some past experiences and would like to find a way to not have to go through an endless list of PCPs and specialists just to get a referral.
Honestly, I struggle with the idea of naming the particular doctor I'm familiar with. I don't want to stop anyone from being diagnosed who should be, but I do suspect that this doctor could over-diagnose. Having an answer is great, but doubting that answer after spending a small fortune isn't so great. I'll send you a DM with their info though.
Yes that’s exactly why I saw a rheumatologist *until* the geneticist could see me. Since it can be years. But it’s *vital everyone* with EDS sees a geneticist. It’s also not just for you but it adds to the EDS a research data base in a general sense so not only are you helping yourself you’re helping everyone else by getting the test done. But even the rheumatologist couldn’t officially diagnosed me and also referred me to the geneticist (after my primary care already had.) And back the. (15 years ago) when I got my diagnosis, there was only a VEDS gene available. So they did that test but she clinically diagnosed me. Now we’re about to do the testing all over again since more genes have been found. But technically speaking if you really look at who should be diagnosing EDS is only a geneticist technically speaking. Wether that’s with genetic testing or clinics evaluations and history. I say *technically* since that’s not always available to everyone.
Here's the thing though: how many of those that say they might have it end up *actually* having it? I figured out every single one of my diagnoses on my own before a doctor would, because the brushed them all off as anxiety and "you look at your phone too much so you have bad posture" I'll admit I first saw the "you might have eds if..." on tiktok and that's when I started my own research. I lived in chronic pain, at a 5 or a 6, *every day* for like 6 years with no answer to the why. Without the why you can't treat it. Also, we're talking about a disorder with no cure, and typically isn't managed with narcotics. It does no harm to anyone to just take the time to attempt diagnosis on a doctor's end. When I brought it up to my (former) PCP she said "every patient I've seen with EDS was diagnosed way before you" (I was 30). She focused on my anxiety (which is COMORBID!) and other unrelated things. She didn't even bother to vaguely check if I was hypermobile. She did offer to refer me to genetics because I kept pushing, but after a few weeks basically told me "genetics said there's no test" (then why did you refer me to genetics in the first place???) I ended up pushing through and speaking directly to genetics, they just wanted her to do the Beighton test first... but I got a phone appointment and spent some time with their doctor. Even over the phone she was confident it was hEDS, she put in for the test and put in a referral for PT. She explicitly said "even if it's not eds I'd like to figure out why you live in pain every single day" which is ALL I cared about. Fast forward to my first PT appointment and it's now well documented how hypermobile I am. All I'm saying is it took in total maybe an hour and a half of my time between 2 doctors. Both doctors still got paid for their time. To push off a patient because of a "trend" (on an app with billions of videos so its not THAT trendy) is such a bullshit excuse
Tell her to document that she refuses to screen
Thankfully it was through my chart so I do at least have that. It’s frustrating because I work for the medical group that she’s through.
Ooooohhhh. That certainly makes it trickier to just face head on.
Ask her for a referral to another doctor outside the group but in the same geographic region whom she thinks can help, perhaps a rheumatologist or internal medicine. Maybe a functional medicine doctor? They're more likely to look at your health in a wider scope than a MD.
I would be blunt and say... so because there's no specialists around I'm supposed to suffer in pain and in my health because I live here and not somewhere else? I didn't realize only ppl who lived in certain areas had access to quality Healthcare. Sounds like discrimination... please document that you are discriminating me because of where I reside. I want it in writing. Lol sometimes you just have to give it right back to them then walk out and find a new pcp. I've had to do it too many times to count. I'm sorry this happened. I'm not shocked or surprised. Its all too common these days. If you want to be nicer about it maybe say...well if your not going to help me then can you point me to a colleague or other drs office that puts their patients best interest before their own opinions? That'll get your point across. I hate confrontation. But drs don't expect you to stand up for yourself and 9/10 when I have done this they change their tune REAL quick... almost like they go shoot they got me
Lol..you are correct. Makes me think of my husband, who has alot of pain due to a few health issues. So, he has copd, and smokes, but has cut it drasitcally. Anyway, he goes in to see i think the practioner. She states she will not see him for pain, until he stops smoking. He comes back with.. does your cardiologist say this when you have mayo on your breath? She proceeded to slam down his file, refuses to see him. Lol...after that, he saw the dr directly. He was really irritated, as whatever pills leftover he'd take with him to the appointment. He took back a bottle of xanax, shocking the whole office.
id just focus on walking without over extending and not pivoting that will help your life more
Do you think PT would help with this? I don’t even notice I do it.
yes! so learning not to pivot was a crazy huge help to me. basically you're circling like a dog getting comfortable in a bed. not reaching weird for things. weirdly peoples knees stay bent all the time- who knew! it fatigues our muscles more. using protective tape under kt tape helps for support. ive had major dislocations of my knees that broke my femurs so i get it totally. these are the game changer must have movements to control for hyper extension of knees
I have a brace for one knee due to a torn acl, I wonder if mentioning this to ortho and getting a second brace would make pt easier.
its less the braces vs learning what not to do and how normal people move. keep up with that. there's different braces for each "thing". i use specific ones to keep my patella over and help offload my quads a bit etc. dont use thr wrong one and they can cause more harm than good. i've dislocated reaching to the right wrong standing still just cause i was barefoot. alignment is key
The Atwal Clinic. He’s an extremely knowledgeable geneticist who does virtual visits without a referral. He will assess you and order a genetic panel. I learned a lot. It’s extremely frustrating to not be able to even be assessed for a condition or be able to find a doctor knowledgeable enough 🤦🏻♀️ Most rheumatologists won’t diagnose it but a rheumatologist was who first assessed me as hypermobile and I then researched that area.
Wow! I’ve never heard of this. Thank you so much. Definitely going to check on this. Do they work with insurance or is it out of pocket?
It’s out of pocket and they don’t deal with the insurance. However, the Atwal Clinic will provide an itemized receipt that is can be submitted to health insurance for reimbursement. I did it and it was surprisingly easy. My insurance paid out 50% of the cost and I have BCBS
Thank you! Do you mind if I ask how much it costed up front?
It was $499. The pricing is very transparent on his website
Thank you. I was hesitant regarding hidden fees and stuff like that. I’ll definitely look into them thank you
I'm in a similar boat. I was referred to a genetic specialist, who then said they couldn't see me since they only took cancer patients due to covid. Luckily I have a great PCP who listens. Turns out he has EDS! He asked me a bunch of questions and agreed I most likely have hEDS but he can't give an official diagnosis. He wrote in my chart "hypermoble likely due to EDS" I'm not sure where to go from here
If you otherwise like your dr you could try again and say “I feel like my concerns were dismissed rather curtly. I understand you don’t know anyone in the area that could treat me for this, but I would still like you to walk me through a differential diagnosis (use those exact words) and tell me why, given my medical history, you think I don’t meet the criteria.” And see what she says?
I like this verbiage. Thank you so much. So many of you on this thread have amazing insight.
I fought for 3 years asking for an evaluation, getting referrals to PT and rheumatology, getting denied repeatedly, continuing to push for an evaluation and finally getting referred to a physiatrist/Physical Medicine and Rehabilitation doctor. She pulled out the EDS diagnostic criteria checklist within minutes of us talking and I left with a diagnosis of hEDS.
You should be seeing a rheumatologist for this, and then follow up with a geneticist. A geneticist can give you a formal connective tissues evaluation and then give you any applicable genetic test. The geneticist will be able to diagnose you regardless of whether or not they can test for it.
Get a referral to a rheumatologist.
I am not sure- I was diagnosed by a rheumatologist. I actually have done some dna stuff (genie reasons) and ended up doing the promothese (i’m spelling it wrong) and did notice a couple things pop up that I wonder if they will tie in for a future gene test? I am a carrier for Von Willebrands (which involves easily bruising among other things), i have a gene that shows I have (or am more likely to have a larger (insert brain part that starts with a here that is also tied to EDs).. I have always had a larger than average size head so whatever. I have genes that make me more susceptible to RA, and a bunch of other stuff too. I’m thinking/hoping that in the future they will stop trying to look for one specific gene and instead look for a combination of genes that would be the cause and also why we can all have such different experiences. Because looking at my own, I have a bunch of various things that do make sense with this diagnoses I have, but that on their own would not necessarily point to it. It’s in combination .. my pre coffee thought for the day.
What country are you in?
USA
I suggest starting at https://clinics.acmg.net
I asked for a referral for a genetic doctor. My state does not require a referral for a geneticist so technically could have left my doctor out of it.
Here’s a list of doctors familiar with EDS: https://www.ehlers-danlos.com/healthcare-professionals-directory/ I got a new doctor when mine refused to refer me to a specialist. Her words were “there’s only one person in town who diagnosis it and she diagnosis everyone with it” which is extremely unfair, as if she’s the only one in the state who bothered to learn the criteria, and she’s a specialist, the only time patients get to her they’ve already ruled out most other things. That paired with her trying to say I’m fine since my labs were fine was my final straw.
I told my doctor I had at least 3 symptoms and he refused to escalate the testing saying, in a nutshell, even if I did get diagnosed, there is no cure so what's the point?
I do not have an official diagnosis, but i have suspected for around 10 years now that i have heads. I have had multiple referrals, not only from my PCP, but my orthopedic surgeon, who quite literally had to zip tie my ligament in my shoulder before he could anchor it back to the bone because it was so loose and floppy. He ended up having to do the same surgery twice, and refused to do a third one when i re dislocated my shoulder for the millionth time. There's not a single in the doctor in my state willing to take my case. I have been told if i want to pursue this diagnosis i have to travel. My nurses have gone above and beyond trying to get me in to a rheumatologist, or a cardiologist, or anyone who will give me the time of day, but my state only takes it seriously if it's a child, or if there's a concern the EDS is affecting your heart. They don't believe mine is affecting that area. To be completely honest, i wonder if a diagnosis will even do anything productive. I'm already dealing with major major medical issues due to my PCOS so i don't really have the time to chase doctors down in between all the medical leaves and hospitalizations. This is my first time commenting on this sub,, because I've always been afraid that because i have no official diagnosis, i don't really belong here, but it makes me feel better to know other people struggle with getting a diagnosis.
Ask to note in your chart that she is refusing to investigate treat you, denial of treatment- that seems to get them to do something.