Multi-faceted EDS

There are aspects of being hypermobile that don’t appear on the Beighton Scale.  In fact, if I’d Photo of hypermobile thumbbeen diagnosed strictly according to the Beighton scale I would have failed miserably – my thumbs don’t bend anywhere near my wrist (what they do do is bend 45degrees in the opposite direction) and my wrists also bend outwards not inwards; I’ve never been able to put my hands flat on the floor with straight legs; and neither of my knees bend backwards.  At the time of diagnosis I’d never had a dislocation or subluxation in my life either (I’ve still thankfully never dislocated a joint, but have now had several subluxations), which was why it was important for me to see a Rheumatologist who specializes in EDS/JHS.  If you see a Rheumy who doesn’t really know much about connective tissue disorders, and who go strictly by the book, I would have scored only 3 out of 9 on the Beighton Score and probably never been diagnosed.  As it was, my specialist Rheumy took other hypermobile joints into account (eg. I have a very hypermobile spine, hips, wrists and ankles), plus factors like a positive Gorlin’s sign which demonstrates hypermobility in connective tissue not even mentioned on the Beighton Scale.  She gave me a score of 8/9.

Photo of Gorlin's sign

Gorlin’s sign

I’ve learned a lot about EDS in the 3 years since my diagnosis, including the fact that many of us have symptoms not mentioned in research literature but which appear quite frequently on patient forums.  I have my “Sean Connery” eyebrow:

Photo of hypermobile eyebrow

My “webbed” toes (the proper name for which is Syndactyly):

Photo of webbed toes

And the fact I can fit 4 (or more if I had more!) fingers in my mouth in a straight line up to the knuckle at the same time.  I’m barely opening my mouth in this photo – I daren’t, as it’s very prone to dislocation, so imagine how large it would be if I truly over-extended it!

Photo of hypermobile jaw

Thankfully, it’s been recognised in the past 5 years in particular that hypermobile joints are often the least of your worries when you have EDS.  It’s a multi-faceted disease, with nearly all patients having degrees of GI complications, autonomic dysfunction and chronic pain.  In addition, many patients experience debilitating fatigue, sleep disturbance, migraine/headaches and a significant minority also have mast cell disease.  I’ve recently added a link to a 2013 video presentation by Dr Fancomano to the Resources Page, which outlines the systemic nature of EDS beautifully.  I wish I’d had this knowledge at my 2010 neurology appointment, where the Consultant basically told me there was nothing wrong with me and I was obviously just sensitive to pain!  Quite the opposite is, in fact, true.  Most people with EDS live with a daily degree of pain which would floor most healthy people, and they do it without a murmur.  I personally live without any form of pain relief, as I have anaphylactic mast cell activation to pain killers (and almost all other drugs).  I think that was why I sat in the car park and bawled my eyes out following my neurology appointment.  I actually think I do remarkably well to live with the pain (and myriad of other symptoms) I do without any of the medications that most people take for granted.  Yet here was this snotty woman telling me I was a bit of a wimp and that I really did need to just get a grip.  Needless to say I have been waiting with bated breath for my mast cell results and a firm MCAD diagnosis (if, indeed, I receive a firm diagnosis), then I have every intention of writing to said snotty consultant (and my ME specialist who is also bloody useless) and tactfully educating them in a disease they clearly know nothing about.

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8 thoughts on “Multi-faceted EDS

    1. bertieandme Post author

      Hi Ella

      I had a look at your blog – it’s fab. Just to let you know that Joint Hypermobility Syndrome is now classed by all the leading experts in the field as the same disease as Ehlers-Danlos Syndrome (Hypermobile type), particularly if you have symptoms other than just hypermobile joints (eg. GERD, IBS, anxiety, dysautonomia, chronic fatigue). I always use the term Ehlers-Danlos as it’s taken more seriously by medical staff than Joint Hypermobility Syndrome (which sounds like it just affects joints, whereas of course it affects much more than that!).

      Re mast cells: it’s very difficult to get tested for and diagnosed with mast cell disease. Which country do you live in (it’s easier in the USA than the UK)? Do you have any mast cell disease symptoms, eg. flushing, hives, itching, severe drug or food reactions, rashes?

      Jak x

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  1. Dorte

    I’m extremely hypermobile and have been diagnosed with EDS as well! My eyebrows also look like that, but I never knew that it was a symptom… Do you know why it is so?

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  2. martoka

    Hello, i know a lot of people ( girl) who are hypermobile and dosnt have ehler danlos, a lot ofgirl are hypermobile, if you dont have pain, its impossible to have ehler danlos !

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    1. Jak Post author

      You are correct Martoka. Hypermobility is fairly common in the general populatioin and doesn’t cause any symptoms. It is not considered a disease.

      We then have people with hypermobility and pain who would fit the new critiera for Hypermobility Spectrum Disorder.

      And then there are people with hypermobility and significant joint and skin issues who would fit the new criteria for Hypermobile Ehlers-Danlos Syndrome.

      Jak

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  3. hevski77

    Thank you Jak for making this post, I showed it to my cousin Gail (waves to Gail if she can see this, ha).

    She and her daughter have the webbed toes. I don’t think I have, not really looked. I was discussing vEDS with her. Because I think we have that type, my dad died of an Aneurysm they tried to fix it in hospital but his body didn’t accept the stent I think and he died. In fact I’m not even sure exactly what happened now. But his blood wasn’t getting to his feet. He was a heavy smoker though and that made things a thousand times worse. He was 56 when he died. My cousin also had a Brain Haemorrhage at 21 and then again at 42 and died.

    I’m like you, I don’t dislocate, or sublux. I can do most of the Beighton Scale apart from the touching the floor thing. I’m impressed with your tongue thing, I can’t do that, but I can roll it. Lol..

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  4. Jak Post author

    Hi and waves to Gail too 😉

    I didn’t sublux a joint until I was in my forties, then I started peri-menopause and my hormone fluctuations caused me all sorts of joint problems I’d never had before! So as you age the situation with EDS can definitely change.

    I do hope you don’t have vEDS but if you suspect it I’d encourage you to get gene tested sooner rather than later as it’s a condition which needs very careful monitoring. The other types of EDS can cause rare complications too though. My Mum had a collapsed lung in her mid forties for absolutely no reason, which I now highly suspect is down to her having undiagnosed hEDS. She’s never had the issues I have with her joints though, so obviously has a milder version of the disease to me, which happens often in families.

    Good luck in getting a diagnosis and let me know how you get on.
    Jak x

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