Possible Ehlers-Danlos Syndrome with craniocervical instability

Thank you, and so sorry for your experiences too, sounds very similar. :/ All I'm even expecting is an "official" diagnosis, for the one thing, that has been outright refused elsewhere, which is why they refer to Mayo, because my needs are not being met, contrary to the generic letters sent out. I have always accepted my conditions, it's the treatment and access that is the issue. It's enough to attempt to make it to work, to support myself, and juggle multiple health conditions, then to be sent in circles (by many), for years. They all need to work together, they cannot all refuse certain groups of people. Other clinics have geneticists, makes it even more baffling. It's a very systemic issue, and hope that there are major changes and equity on the horizon.

Hi @zebraspoonie, I think that I've read all the posts, but I may have missed something and if so please forgive me. I was Dx with EDS hypermobility (so far) by one of my neurologists and was surprised by it, knew nothing about it and came home and researched all I could immediately. I always knew that we were a super flexible family but didn't know that there was a diagnosis for it so you can imagine my surprise. Now my joints dislocate randomly more than ever when it just used to be my fingers locking up. Rheumatology isn't the right department as it isn't an auto-immune disease. Neurologists, cardiologists, and dermatologists are the correct doctors to Dx the primary types. Learn everything that you can about Ehlers Danlos Syndromes (there are 13 types - most of which are rare). It's possible to have more than one type - don't we know about that! Now for the usual news, it's not unusual for it to take time to find a doctor who actually knows EDS. My Rheumatologist just tried to un-Dx me via over a telemedicine appointment then going on later to state it's not an AI disease. She wasted my time and appointment on the trying to get me to bend my arthritic thumb to my arm. I wasn't Dx on my thumbs, nor just on my flexibility. I wrote into her office a week later and provided polite feedback about this doctor appointment. When the hospital asked me to review my appointment, I gave the same feedback. Nothing's comes out of it other than a bill over $200.
Hang in there and do not expect a Rheumatologist to assist you with a Dx. Find the appropriate doctor for the type of EDS. Wishing you blessings.

Hi there, thank you so much. We have a lot of shared experiences for sure. That's so disheartening to hear you've dealt with such dismissive and rude (at best) providers like that too. It's so infuriating, and just wears us down even more, increases stress, and then everything else too. I'm glad to hear you spoke up though, I fill out surveys too, for the good and the bad. I've had to discuss some hurtful behavior with clinic managers too, it's never fun if they don't seem that surprised either.

I think one post mentioned seeing a rheumatologist, maybe just to see if I could get in to the Mayo that way, vs genetics or general medicine. And since it's genetic, no one takes us seriously, or will consider any fusions or CCI surgery until you have a diagnosis from a geneticist. We will all be ecstatic, when that gene is found, for hypermobile! Yet all others refer to Mayo genetics now, even when they have their own, it's so backwards. I'm sure you've heard the excuses too, saying how expensive genetic testing is, but they'd never say a thing about cost, for more well known disorders. I have a feeling insurance would cover mine, but I would gladly make payments, just for the validation that I know that I'm going to need, if need be. My mom and I have a lot of vascular symptoms too, and meet all the clinical criteria for hypermobile and classical, but it wasn't from a geneticist, so it's invalidated in the eyes of most others, won't even add to my file.

Luckily, I am used to being my own best advocate, since my teens, with 3+ autoimmune disorders, and scoliosis. We hadn't heard of EDS either, until 2 friends were diagnosed a few yrs ago, and they both had to go out east just to obtain theirs. None of the rheumatologists I've seen told me about it, but nonchalantly agreed that I likely had it, and said there's nothing you can do anyways. Unbelievable. All those years, hurting even in college, could have been looking for a PT that would help me, vs others that didn't help at all, and some resorted to shaming, convinced I just wasn't doing my postural or other exercises, because they only saw scoliosis (which was too far gone even for that, 20 yrs ago). I didn't know much about my other conditions then either, but at least I knew enough to know that I was going to have to always put myself first, and to never feel bad about it, and to never feel bad about 2nd or 3rd opinions either.

But it is So exhausting. I have numerous other conditions that are not well managed either, that's why I opted to try for general internal medicine this time. Honestly don't know if I'll have the energy to keep trying any other way, with all the flares I'm getting. Maybe I'll be able to find an agency that might assist in looking into the inequities and discrimination in access to services, at any clinic. After all, accessibility is a human right, not a privilege. Wishing you the best too, and for providers that truly understand, and listen.

Hi there, thank you so much. We have a lot of shared experiences for sure. That's so disheartening to hear you've dealt with such dismissive and rude (at best) providers like that too. It's so infuriating, and just wears us down even more, increases stress, and then everything else too. I'm glad to hear you spoke up though, I fill out surveys too, for the good and the bad. I've had to discuss some hurtful behavior with clinic managers too, it's never fun if they don't seem that surprised either.

I think one post mentioned seeing a rheumatologist, maybe just to see if I could get in to the Mayo that way, vs genetics or general medicine. And since it's genetic, no one takes us seriously, or will consider any fusions or CCI surgery until you have a diagnosis from a geneticist. We will all be ecstatic, when that gene is found, for hypermobile! Yet all others refer to Mayo genetics now, even when they have their own, it's so backwards. I'm sure you've heard the excuses too, saying how expensive genetic testing is, but they'd never say a thing about cost, for more well known disorders. I have a feeling insurance would cover mine, but I would gladly make payments, just for the validation that I know that I'm going to need, if need be. My mom and I have a lot of vascular symptoms too, and meet all the clinical criteria for hypermobile and classical, but it wasn't from a geneticist, so it's invalidated in the eyes of most others, won't even add to my file.

Luckily, I am used to being my own best advocate, since my teens, with 3+ autoimmune disorders, and scoliosis. We hadn't heard of EDS either, until 2 friends were diagnosed a few yrs ago, and they both had to go out east just to obtain theirs. None of the rheumatologists I've seen told me about it, but nonchalantly agreed that I likely had it, and said there's nothing you can do anyways. Unbelievable. All those years, hurting even in college, could have been looking for a PT that would help me, vs others that didn't help at all, and some resorted to shaming, convinced I just wasn't doing my postural or other exercises, because they only saw scoliosis (which was too far gone even for that, 20 yrs ago). I didn't know much about my other conditions then either, but at least I knew enough to know that I was going to have to always put myself first, and to never feel bad about it, and to never feel bad about 2nd or 3rd opinions either.

But it is So exhausting. I have numerous other conditions that are not well managed either, that's why I opted to try for general internal medicine this time. Honestly don't know if I'll have the energy to keep trying any other way, with all the flares I'm getting. Maybe I'll be able to find an agency that might assist in looking into the inequities and discrimination in access to services, at any clinic. After all, accessibility is a human right, not a privilege. Wishing you the best too, and for providers that truly understand, and listen.

Forgot to mention that that genetic testing cost over $1,000; would gladly pay for more genetic testing and pay for it again over time to figure more out.

I just found you all during a google search. I have been sick for 4 years now. I too, have had so many tests and procedures to no avail. I have been dismissed by many specialists....and I have difficulty regulating my emotions, which makes it to even harder to communicate with many Western MD’s. My initial symptoms were extreme mental fog, anxiety, tinnitus (all of my life, but turned up to an 11 now), nausea and joint pain. They did find that I had pulmonary sarcoidosis, but that wasn’t the reason for my symptoms.

Just recently, I had a ND diagnose me with hEDS using the 2017 Beighton score. Followed by a POTS, MCAS and possibly CCI. I began more symptoms. Extreme dizziness, eye movement causing swirling tinnitus and facial numbness. Finally bc of new and worsening symptoms my primary care physician is sending me to a Rheumatologist to confirm hEDS and trying to get me an MRI with specialty flexion and extension images. I am hopeful for some confirmation and possibly some relief 🥲.

@chefgreg45, welcome to Mayo Clinic Connect. I'm glad you found us and will connect with fellow EDS-ers like @zebraspoonie @gldnrtrvrlvr @wings89 and others.

Does anyone in your family have Ehlers-Danlos Syndrome?

@chefgreg45, welcome to Mayo Clinic Connect. I'm glad you found us and will connect with fellow EDS-ers like @zebraspoonie @gldnrtrvrlvr @wings89 and others.

Does anyone in your family have Ehlers-Danlos Syndrome?

@chefgreg45, welcome to Mayo Clinic Connect. I'm glad you found us and will connect with fellow EDS-ers like @zebraspoonie @gldnrtrvrlvr @wings89 and others.

Does anyone in your family have Ehlers-Danlos Syndrome?