Yeah, I’ve been diagnosed with hypermobility syndrome, it seems to run in my family, along with other parts of things that could be EDS (various prolapses, aortic aneurysm, etc). But since they’re still arguing over definitions and it hasn’t been the biggest part of my medical history, it’s sort of noted by my doctors that they don’t yet know whether HMS is just a form of EDS or not, nor whether I qualify for EDS diagnosis. I think the diagnosis may actually be more important for the sake of relatives than for me myself. But yes I’m aware it can cause a lot of these things. (But the congenital myasthenic syndrome — what we currently think the myasthenia gravis actually was, after doing genetic testing — would be separate from all that, I think. My genes show a specific protein that’s made differently in my body than in most people’s bodies. And other symptoms and responses to treatment match CMS (which is genetic) closer than they match MG (which is only rarely genetic). I have to say that was a surprise to some extent, just because CMS isn’t very common and they haven’t even studied enough families with my mutation to really know everything about how it works.)

But I’ve long suspected — as have doctors — that many of these things that seem like maybe six different diagnoses each, are actually one overarching condition causing the six sub-diagnoses. Sort of like if someone were diagnosed with hypermobility syndrome, skin problems, vascular problems, frequent dislocations, and prolapsed bladder, but nobody mentioned EDS or tied all of these things together. Which happens more than you’d think. I’ve also known a surprisingly large number of autistic people with diagnoses of hypermobility, EDS, or Marfan’s. Not sure what that means. (Tony Attwood uses hypermobility as one thing to screen for in figuring out whether to search further into an autism diagnosis for someone. I don’t like everything the guy says, but he has experience with such a large number of us that I wouldn’t be surprised if he was picking up on patterns there.)

I was personally only diagnosed with hypermobility when I saw a jaw specialist. He gave me a questionnaire. I skipped the part about long-term widespread joint pain — I was afraid once he learned it wasn’t arthritis I’d get the same crap I always had before. But when I got to his office, he asked me repeatedly orally, telling me it was very important that I answer that question. When he got a very meek “yes” out of me, he said “Okay, bend your thumb like this as far as you can… now bend your elbows backwards… etc.” And then, as I did all these things, he just said “You’re hypermobile!” He also discovered a birth defect in my jaw on a panoramic x-ray, and said my TMJ pain was from a combination of the socket (not the right word) of my skull being formed wrong so the ball (also not the right word) of my jaw couldn’t fully rest in it properly, her, and then hypermobility. But he did nothing to educate me about HMS or EDS, I had to do that on my own. (At the time, I just learned about HMS, thinking EDS would be more severe. But I eventually learned that there’s debate about whether or not HMS is a form of hypermobility-type EDS, and that even those who differentiated between the two, did so in ways that often had me falling on the EDS side of things (such as my frequent insensitivity to local anesthetics).)

So I don’t know — it’s just… complicated, and also I feel like EDS vs. HMS, there may be really important medical reasons to know whether HMS is EDS or not, but it also seems like it’s just words in a way, people have undoubtedly been misdiagnosed frequently in both directions.

When I read this, I was taken aback by the lack of awareness your doctors seem to be showing about hypermobility syndrome though… have you gotten more answers about this yet?

The reason I’m asking is because when hypermobility syndrome (diagnosed with Beighton score) is combined with the appearance of any of the other symptoms you’re listing, that *is* the clinical definition of Ehlers Danlos Syndrome, Hypermobility Type. There are literally no other tests for it–that is the test. If you’ve passed the Beighton score and you have muscular weakness and gastroparesis (among other things), you should have been diagnosed with Ehlers Danlos Syndrome. Period. Like… it’s like you posted an X-ray of a broken bone and your doctors were saying “I don’t know what’s wrong–what does it mean when there appears to be a crack in your bone?”

This list:

Frequent bowel obstructions (x-ray)
Central sleep apnea (sleep study)
Obstructive sleep apnea (sleep study)
Early-onset gallbladder disease (ultrasound)
Exotropia (eye exam)
Gastroparesis (gastric emptying scan)
GERD – reflux (barium swallow)
Esophageal motility problems (barium swallow)
Dysphagia (barium swallow)
Myasthenia gravis or related condition (single fiber EMG)
Secondary adrenal insufficiency (cortisol test, ACTH test, ACTH stimulation test)
Urinary retention with spastic urethra (urodynamic testing)

<– every single thing on here is a common/possible symptom of Ehlers Danlos Syndrome (EDS). There's even an unknown link between Autistic Spectrum and EDS (but they have no idea WHY that is — but there are papers on it and people studying it).

EDS is when the body makes defective connective tissues. So all the organs that are made of connective tissue, and all the joints and so forth, are prone to failure, and the muscles get increasingly weak because they're doing the job of the connective tissue. Almost no one without EDS can pass the Beighton score test… and the majority of people with EDS have the issues you're describing with both poorly localized and also specific muscle failure. Trouble eye tracking is common, as is slow progression from needing a cane to needing a wheelchair.

The big problem is that doctors are dramatically under-educated about this. So the average time for diagnosis from onset of seeking help for physical symptoms is 23 years. The majority of people I've seen in my EDS groups found their diagnosis after meeting other people with EDS who recognized the symptoms.

Anyway, I know it's maybe not appropriate to go on someone's blog and say "I may know what you have, have you talked to your doctor about…." But someone changed my/our life by doing that, and after diagnosis my treatment was so much better.

Feel free to write to me if you have questions, or to take this post down if it's inappropriate.

<3

Oops, I didn’t mean to post that question twice. Thank you for taking the time to reply to me and again for sharing your experience with finding a good doctor. I’ve spent great deal of time and money trying to find a doctor that will truly listen. Your post has given me a new surge of optimism. I’m glad I stumbled upon your blog. I’d also like to I apologize for requesting that information from you. In retrospect it was incredibly inappropriate. I’m deeply embarrassed for even asking something like that. (I’d be grateful if you would delete them.)

I’ m sorry, there’s no way I could share that information online. All I can say is that he’s very good at what he does, and I trust him. He’s also apparently handled a lot of cases where people were thought to have a psychiatric problem (but kept insisting there was something else wrong, and getting rebuffed by most doctors) and he found a neurologic problem instead. That’s why I was sent to him, because they knew he’d be thorough and wouldn’t be prejudiced by my psych history.

I’m so sorry you’ve had to gain all this knowledge, and I want to stuff it right into the middle of every med school curriculum ever.