But I’m a horse!

cartoon image of a striped horse

Not a zebra!

If you’re not aware by now, you sure should be that May is Ehlers-Danlos Syndrome Awareness Month. And you should also be aware that the zebra is our rare disease mascot. But, in case you weren’t aware, I’ll refresh the history behind it a little so as to explain myself.

The saying goes that in medical school, doctors are trained upon hearing hoofbeats behind them, to think and diagnose the more common possibility, a horse so as to avoid over-diagnosing rare diseases. Needless to say, we turn out to be that less common occurrence, a medical “zebra” (in the western world), which helps explain the difficulty we experience getting diagnosed, as I’ve explained at length in About EDS and When to Suspect EDS. Naturally this leads us to sport lots of zebra themed attire and décor during May, but even all year round for the dedicated.

That said, I’ve also pointed out repeatedly how leading experts are now citing EDS may run as high as 2% of the general population (Castori et al 2012), or 1 in 50! And I must say from my own personal unscientific observations, I’m utterly convinced this is true. The thing is, most don’t have such a dramatic or “visible” experience as I have had, not becoming afflicted in any visible way (though they are afflicted in plenty of invisible ways like pain and POTS!), and so remain undiagnosed, and struggling to be taken seriously and heard.

It is my personal, totally unscientific theory that most of us who are most visibly and seriously afflicted and thus more easily diagnosed are likely double allele carriers, i.e, we got it from both sides of our families, even if this may not be obvious at first glance. (I personally also think hypermobile people are attracted to each other for a variety of reasons, both physically and mentally making this so). EDS runs most clearly on my late father’s side, but I now suspect my late mother in 20/20 hindsight as well. (She had full dentures, varicose veins, phlebitis, anxiety, depression, headaches, weakness, fatigue, very thin skin that tore at a glance, easy bruising, more. Thing is, she left when I was just 10, so I’m working off old memory here.) I’ve watched several colleagues slowly draw the same conclusion in our support groups over time also.

So clearly, while few of us are getting diagnosed yet, there are many more suffering sub-clinically among us, and at potentially 1 in 50 that’s far from rare! Yes, some specific types of EDS are rare, some thankfully extremely so. But I feel very strongly the collection as a whole, especially the milder manifestations sure are not. So I feel justified in declaring myself a medical “horse”! As I told my doctor in 2012, if I’m rare in any way, it’s for being a Portland native with EDS. Or for being into Balkan folk dancing and languages and knowing Pi to 20 digits. But not for having HEDS, by far.

horse head image

But I’m a horse!

Again, I feel one of the main reasons for this is the hyper-focus on the 9-point Beighton Hypermobility Scale, rather than the rest of the manifestations described in the Brighton Diagnostic Criteria (of which it’s just a confusing part) for diagnosing the most common Hypermobile EDS. A majority of HEDS patients I’ve met (including myself) no longer “pass” or score very high if at all on the 9pt Beighton Scale! (I used to be very bendy as a child, would have been a 9/9 easily, but am now a 2/9 and know some who are 0/9).

But all of them (and most with Fibromyalgia) pass the Brighton Diagnostic Criteria with flying colors when read thoroughly and carefully. (We got “bright” in Brighton, England, right.) I’m seriously concerned that the 9 pt Beighton Scale mentioned at the start of the Brighton Criteria continues to be a red herring that serves only to mislead and confuse BOTH doctors and patients just learning about this complex condition. Dr. Jaime Bravo in Chile agreed with me in an email when I described a very suspect but totally non-bendy friend, he still suspected her based on my description of everything else. He also speaks from personal experience apparently:

August 3, 2012

“Dear Jan :

Your friend probably also has Ehlers-Danlos type III, even though she is not lax. In my studies I have found that 50% of them are not lax, I am one of them. Have a GOOD DAY.

Dr. Bravo”

The problem is, everyone reads the Brighton Diagnostic Criteria from the top down, left to right like good western English speakers, and their minds seem to snap shut upon failing to pass the first two major criteria involving increased hypermobility and lots of joint pain, and proceed to mostly ignore the seven other minor criteria having nothing to do with being bendy! I watch this happen repeatedly, and so have begun running them backwards to that end.  Eyes keep opening as people realize they don’t have to be bendy to have HEDS! (NB, Vascular EDS is not known for hypermobility much either, and it is far more dangerous).

See for your self with my (totally unofficial)  Reverse BRIGHTON Criteria:

8 MINOR CRITERIA (4/8 bolded have nothing to do with the joints, 7/8 have nothing to do with being at all flexible or hypermobile since most are no longer, and some never are!)

  • Varicose veins or hernia or uterine/rectal prolapse.
  • Eye signs: drooping eyelids or myopia or antimongoloid slant (almond shaped eyes).
  • Abnormal skin: striae (stripes), hyperextensibility (stretchy), thin skin, papyraceous scarring.
  • Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly [positive Steinberg/wrist signs].
  • Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).
  • Dislocation/subluxation in more than one joint, or in one joint on more than one occasion.
  • Arthralgia (joint pain) > 3 months in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.
  • A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50) (Hypermobility scale)

2 MAJOR CRITERIA:

  • Arthralgia for longer than 3 months in 4 or more joints (joint pain)
  • A Beighton score of 4/9 or greater (either currently or historically)

You “pass” if you score either any 4 or more minor criteria, or 1 major and any two non-matching minor criteria (the last two minor criteria shown above are a restatement of the major criteria, that is to say “match” them), or both major criteria. Alternatively, you can pass with any two minor criteria if you have a known (diagnosed) first degree relative (parent, child, sibling). Again, this is MY unprofessional unofficial variation on the Brighton Diagnostic Criteria to help de-emphasize the 9pt Beighton Hypermobility Scale, as many stop reading when they don’t pass the first major criteria in the proper Brighton Diagnostic Criteria. This breaks my heart, since this is the whole reason these were developed: to help smoke out “non-bendy” EDS patients based on all the “extra-articular” (non-join-related) signs and manifestations we can have. But I sometimes feel like I’m beating a dead horse, to mangle a phrase. (Sorry!) I’m also not a doctor, just a very pedantic well-read patient, so please consult YOUR doctor or health care provider for proper diagnosis and treatment.

I’ll stop there. Please feel free to keep wearing zebra stripes to raise awareness though meanwhile, as I fear it’s going to be a fair while still before the notion of EDS being common catches on. I just ask that you help highlight the non-joint-related signs of EDS of all kinds so as to help raise awareness of it for that 50% Dr. Bravo referred to and that I keep smoking out too. Meanwhile back to the therapy pool for this horse, so as to walk again another day. Thanks for reading.

Jan

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13 Responses to But I’m a horse!

  1. shaunamom says:

    Thanks so much for putting this up. This is not a condition that I personally have, but as someone with a rare disorder myself, I so often come across others who are searching for answers and can’t seem to find them. This type of information seems exactly that kind that patients can disseminate among themselves, to help each other learn when doctors have failed them and they are searching for answers.

    • Jan Groh says:

      Thanks for your kind feedback – that is my dearest wish, to help untangle the gnarly diagnostic web that surrounds this condition for suspect EDS patients and their doctors and reduce the average time to diagnosis from the current 10 years, to ideally 10 weeks, tops – and yesterday ;). Glad it’s making sense and seems helpful.

      • Tasha says:

        I wanted to thank you very much for all this information. It has been extremely helpful. You are a star as far as I’m concerned. I have a question. It looks as though you might be on Vancpuver island. I am aswell and was hoping you would know of a good doctor who is knowledgable in diagnosing EDS. My daughter who is 13 has been diagnosed by a pediatric rhematologist we are just trying to get a firm diagnosis for myself. I have had two of my daughters doctors say I definitely have it just need my own doctor. This site is enlightening so again thinking.

  2. linda says:

    Thanks. Glad I found you on twitter. My family is much more flexibel then me. But I’m the only one who has HMS. I got my diagnosis because of my subluxations, intable pelvis ánd because of my familyhistory. If they would have only looked at my ability to bend my joints I would have never got my diagnosis.

    • Jan Groh says:

      So glad you found me too -that is why I tweet. To raise awareness and counter the common perception that everyone with EDS is bendy. Welcome to the Stiff Zebra club!

  3. bloodstone says:

    good post, apart from the last bit. relying on your own GP or family Dr is risky at best. i know it’s CYA, but just because a Dr says you don’t have EDS, doesn’t mean you don’t have EDS. i went 5 years from first reporting worrying symptoms to HEDS diagnosis, 20 years since first reports of easy dislocation and pain (started as a preschooler) and a year from me first suggesting the possibility (and providing both introductory and academic information on the condition group to my GP).

    those 5 years were spent mostly with mental health turning me away because it’s obviously not a mental health issue, and my GP sending me back again. the last year, i still got lots of mental health referrals, a few physio and ortho referrals for specific injuries, and a rheumy referral, where a ‘joint specialist’ (because of course, i’m way too stupid to understand the word rheumatologist LOL) diagnosed me with fibromyalgia without a single examination or blood test. if it fits you, and not much else does, keep at it until you get either a diagnosis or another fitting explanation for your signs/symptoms.

    • Jandroid says:

      Sorry for my late reply. Quite agree! Yes, I have to point people to their doctors of course out of an abundance of caution and for legal reasons. But that is also why it took me 25 years to get properly diagnosed – like most, my doctors only knew about the grossest signs of the rarest types, so I continued to be dismissed as “just depressed”. While we can and often *do* have real mental health issues (I did, and they are common in the large support groups I’m in), the doctors always stop there and proceed to dismiss our very real physiological complaints the can’t see on scans. (If only pain glowed!) We really need to stop siloing the mind from the body this way. (Yes, depression *comes with* pain – but does not cause it!)

      Definitely trust – and heal – your gut, always. Keep playing squeaky wheel (while getting on with your life as best you can lest it pass you by in doctors’ waiting rooms), and you will eventually prevail. I hope my blog empowers more of you to get diagnosed sooner though accordingly. It should not take ten years on average for people to be diagnosed with this condition! Good luck.

  4. ÿþM says:

    That is really attention-grabbing, You are a very skilled blogger. I have joined your rss feed and sit up for looking for more of your great post. Also, I’ve shared your website in my social networks!

    • Jandroid says:

      Thank you so much! That was my goal – to grab attention and raise awareness of how widely varying we can present with EDS. Thanks for the follow!

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