HEDGE study day

A fortnight ago I went up to Edinburgh to take part in the HEDGE study, which is recruiting 1000 patients from America, Britain and Europe in order to try to establish the gene(s) responsible for Hypermobile Ehlers-Danlos Syndrome.

By the time I received my invitation there were only early morning slots available, so I chose the latest one which was for 10am.  It takes about 1hour 40 mins to get from where I live in the north of England to Edinburgh, so I caught the 8am train.  This meant I was up at 5.30am (it takes a good while for my joints to ‘thaw out’ in the mornings so I need time for this to happen), had breakfast and got dressed, put a packed lunch up, got myself and the dog in the car, walked the dog in the dark, dropped him off at my parents’ house then recruited my 80 year old, disabled Dad to take me to the station in his car to avoid astronomical parking charges.  By the time 8am, and the train, arrived I was buggered and the day hadn’t even started yet!

Although marginally better at travelling on trains than in cars, I still find it an ordeal.  My nervous system is high as a kite at the best of times, so when the train pulls out of the station it shouts at me in a very loud voice “what the FUCK is happening?!” as it tries to cope with the swaying and vibrations.  My entire body buzzes like I’m being electrocuted and my brain feels like it’s swishing about in my skull, the effect of which is to make me as dizzy as a kid on a roundabout and twice as disorientated.  It didn’t help that I was facing the early morning sun which flashed as it disappeared behind every tree on the banking and inevitably led my light-sensitive brain to develop a migraine before we’d even reached Carlisle.

The testing was being carried out at the Royal College of Physicians, which is luckily only a 5 minute walk from the station.  I arrived at 9.50am and only had a short wait before I was called in to see an American lady who took me through the consent forms etc.

I was then shown in to see an American physician.  She introduced herself but I was so spaced out I have no clue now who she said she was, but she was lovely and immediately put me at my ease.  She explained all participants in the study had to conform to the 2017 definition of hEDS so that the study was based on identical symptoms, which is of course completely understandable.

We then went briefly through my medical history and I was quickly examined.  The appointment went belly-up at this point.  When I was diagnosed back in 2010, my Consultant explained that I did not fulfil the Beighton Score criteria.  I’ve never been able to put my thumb to my wrist, for example.  However my wrists are clearly hypermobile, they just bend in the opposite direction from that listed on Beighton, therefore my Consultant still scored me.

Beighton score wrist & thumb hypermobility

My hypermobile wrist not on the Beighton Score

Photo of hypermobile thumb

My hypermobile thumb not on the Beighton score

The HEDGE Physician explained that, in a clinical setting, she would still give me 2 points for the hypermobility of both wrists however the study has to stick rigidly to the Beighton Score and because of that I was awarded 0.  Here begins my first gripe with the current diagnostic criteria.  It is absurd to award me zero points when I’m clearly hypermobile.  Why on earth the Beighton Score wasn’t updated when the diagnostic criteria were re-designed in 2017 still baffles me and even the Physician agreed it needs to be re-examined.

On to my fingers.  I am now 52 years old and Menopausal.  While I am still more flexible than the general population most adults, as they age, stiffen up and hypermobile people are no exception.  On top of the normal stiffening of age we also have decades of trauma to contend with, which causes chronic pain.  My hands are now really quite sore, to the point where I can’t take the tops off jars or cut up dense food.  I was asked could I bend my pinky fingers back by 90 degrees, as per the Beighton Score.  “I used to be able to” I say, “but these days they’re just too sore and stiff”.  Another zero is added to my tally 😦

Beighton Score: 1 point each pinky finger

Photo of hypermobile finger

My hypermobile pinky finger

And so on to my back, which has been painful since I was 11 years old and is currently absolutely killing me and my hips which are even worse.  I was asked if I could place my hands flat on the floor with straight legs, my answer to which was also that I used to be able to but these days it’s a definite no no.  I accumulate another zero, despite the fact I could do the splits until I was well into my thirties.

In the end I scored a borderline 4/9 on the Beighton Score (my original diagnostic score was 8/9) and this is where I got miffed, though I didn’t say anything – it’s not the physician’s fault!  Ever since I was diagnosed with hEDS I’ve realized that the emphasis is on children and young adults  (and by young adults I mean under the under 40s).  No-one wants to know about older adults and definitely not about the elderly or what happens after the menopause.  We’re written off.  The attitude seems to be that the damage has been done by the time you’re 40, so what’s the point in studying us oldies?  What does anyone hope to gain?  An understanding of how age affects us, I would have thought, and ways in which not only our symptoms can be effectively treated but how our issues could be avoided by the younger generation!  It makes my blood boil if I’m honest.

The 2nd section of the 2017 diagnostic criteria deals with issues other than hypermobility.  I was asked do I have Piezogenic foot papules, to which I could answer a definite “yes”.  Only the physician said there weren’t enough of them – how many does one need?!  I can see 5 on the inside of one heel alone!  I scored zero, though I’m not sure why.

Photo of piezogenic papules

Piezogenic foot papules

I was then asked if I had any atrophic scars, the answer to which is also a resounding “yes” as I had spinal surgery as a teenager.

Widened, atrophic, cigarette paper scar

“Is that the only scar you have?” I was asked.  No, but it’s the only major scar I have.  I do have one on my forehead from when I fell as a 3 year old and banged my head on the kitchen chair, but as it’s 50 years old it’s quite faded now.  Again, I scored a big fat zero as you need two scars to qualify, even if your one humongous scar is clearly atrophic.  FFS it’s ridiculous.

The next question related to stretch marks, of which I have none.  I’ve never been pregnant, you understand, or overweight – the two main reasons why anyone would have stretch marks (my Mum’s stomach and bum are covered in them from her pregnancies).  Again I scored zero.  Not only is the 2017 diagnostic criteria discriminatory towards older people, it’s also discriminatory towards child-less people too!

“And have you ever had a prolapse?” the anwer to which was also no, thank God.  Y’see, prolapses are usually events which happen after child-birth, or in women over the age of 65, neither of which apply to me (although they can also be caused by long term constipation).  More discrimination of middle-aged, child-less women, not to mention men.  I would honestly love to know the proportion of average weight, child-less patients who fulfil the stetch-mark and prolapse criteria.  In order for criteria to be diagnostic they surely have to apply to the majority of patients and I’d kill to know the statistics in child-less women, and of course men, because I’d bet my house on these two symptoms applying to very few.

I knew I would fail the 3rd section of the criteria, which insists on a closely-related family member also having an EDS diagnosis.  Now this really is discriminatory.  What if you’re adopted?  Or your parents died young?  Or you’re a refugee or immigrant whose parents are still abroad?  Or, like me, you’re simply not in touch with one side of your DNA family?  I do still have my Mum, who has all the signed of both hEDS and MCAS, but she’s 79 years old and in very poor health and has absolutely no intention of trying to get diagnosed with hEDS (which is hard enough for young people and, as discussed above, almost impossible for the elderly).  Needless to say I failed the 3rd section in spectacular fashion.

I have some issues with the 2017 criteria, in case you hadn’t guessed 😉

The upshot of the appointment was that I didn’t qualify for the study.  All that effort, not to mention losing £50 in train fares (no expenses were provided) and having to wander Edinburgh for nearly 2 hours in the rain, dizzy, in pain and disorientated, waiting for my train home.

I wish the study every success.  We clearly need to know the gene(s) responsible for our disease.  However, I wonder how many hEDS patients are being excluded when they clearly have hEDS and how representative the actual results will be?

18 thoughts on “HEDGE study day

  1. Jan Groh

    You and me both. I disqualified myself back in 2017 when the new criteria came out for the very reason you just experienced: I’ve stiffened greatly with age and early onset arthritis. It is ageist and discriminatory.

    I do pass the other two criteria (2 – A and C here, and 3). I did get my stretch marks as a super skinny teen on my thighs, oddly enough. And never been pregnant. (Still have them.) I’m also Marfanoid. But I do not pass the Beighton any more. I could have been a performer for Cirque du Soleil as a child or rivaled Sofie Dossi from America’s Got Talent a couple years ago. (Or been a fourth “Ross sister” – search for “Solid Potato Salad” on YouTube – but not after lunch.)

    They should have counted your papules. That’s crazy. Sounds like her mind was made up.

    I think I best fit “Historical-HSD” now – that is, I was once globally bendy (minus the wrists also), but not any more. Cuz otherwise it was IBS and depression that made me go from walking to wheelchair in 3 weeks in early 2012 and split my right SI joint and loosened my leg, fingers, ribs and toes. Sure. (My aunt’s too in her 40s, whee, we’re definitely related.)

    Anyway, they are being very strict about it for the study. Lots of us are getting dumped. It’s all in the name of science. Which is fine as far as this study goes. But… it’s also harming patients in the clinical setting where less savvy doctors are being this pedantic. Lots of people are unhappy. You’ve definitely got lots of company. Not much comfort I know. Sorry for your trouble.

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    1. Jak Post author

      Thanks for that Jan, it’s reassuring to know I’m not alone in thinking the new criteria are discriminatory. I personally think it’s made the already difficult situation of getting hEDS diagnosed worse and the Beighton Score absolutely needs reform.

      Liked by 1 person

      Reply
  2. Jean Bell

    Hello Jak
    I’m sorry about your wasted journey. I am constantly amazed at your generosity in sharing your experience and your courage in dealing with what you have to deal with.

    Liked by 1 person

    Reply
  3. artfulblasphemer

    I never got a single stretch mark from any of my pregnancies, but I have them all over my knees and back from growth spurts as a young person. My youngest son (who shows no other signs of EDS) has had stretch marks all over his back since he was 9 or 10–again, that growth spurt stressed his skin. I do hope that the genetics of the thing get sorted, as that would be the cleanest route to diagnosis and would hopefully lessen the need to do the party tricks for each interested doctor. I chose to be diagnosed in 2012 specifically so that I could refuse to perform from then on—I had then, and would have now, a 9/9 on the scale, but it’s injurious to my joints each time I have to perform it. I’m sorry your time was wasted and agree that the criteria fails to capture the spectrum of EDS.

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    1. Jak Post author

      Totally agree about the “party tricks” injuring joints. The physician at the study said to me “I’m sure your pinky fingers would go back further, but I’m not going to force them” which is a blessing – they *do* go back further but it hurts like hell to hyper-extend them at all these days!

      Very interesting about you getting stretch marks from a growth spurt but not from pregnancy! x

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  4. Angie Bifano

    As a trained researcher with HEDS I am in agreement with what you said. I thought about signing up for this age 77, diagnosed by genetics to M.D. who specializes in this. I would have same problem despite in past being really “double jointed”as a child, good at gymnastics and in my 30s doing back ends and splits as a professional belly dancer. Ok I did have stretch marks after child birth. I do yoga now carefully with a local PT to be safe, but you are right about getting stiffer with age. And some of us have no scars at all:I heal unusually well like a minority Of HEDS folks. I found your pics interesting and bet a lot of us would be “borderline” despite numerous subluxations.

    Keep up the good work and I know how difficult this must have been especially the early morning stuff which messes me up too.angie in u.s.

    Sent from my iPad

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    1. Jak Post author

      Thanks for the comment Angie. I think many of us older folk are in the same boat in that we stiffen up considerably with age, then are simply ignored because we are no longer hypermobile 😦 x

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  5. Livvy Woodburn

    Hey Jaq,
    Think you’re so brave and beautiful for taking the plunge to try to help & support this genetic research it’s so wonderful it’s being done and needs sick people to be strong enough mentally and physically to get to the venues for blood draw. I’m sorry how the rigid criteria they are using to try to get consistent and fare research is also turning out to be discriminatory as you described it’s not right and I agree I have also noticed a bigger focus on young people and prevention almost writing off people over 40. I hope there’s more research in the future focused on ageing with EDS or hormones and eds ect. I do have stretch marks and bowel prolapse age 35 though childless and if anything underweight. Though I have no idea how on Earth I’d get either of parents assessed for eds in their 70s though Mom Hypermobile and has mcas.. I score always different on the beighten depending on who does it! Have much hypermobility mostly hips shoulders ankles finger tips and spine though interestingly prof G and genetics diagnosed a 9/9 and 2 general rheumys 4-5/9! What’s that about?! I don’t have the foot lumps like yourself but do have slightly widening scars .. anyway I’m sorry you had a waisted journey to Edinburgh and must have made you feel rough. Appreciate your talking about it as it’s so fansinating to see from patients perspective what’s going on at these events. I wish I could go to the next one ! I wonder what each of our different experiences would be in being selected that’s a study in itself ! 😫🤭

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    1. Jak Post author

      I agree Livvy, it *would* be interesting to see how different our experiences are in being selected for a study!

      Re the Beighton Score, I totally agree it depends on who you see. Many consultants clued up on hEDS ignore the Beighton and just see if joints are hypermobile. Those not clued up stick rigidly to the score though, so you can fail even if you’re clearly very hypermobile – a situation which really does need sorting out. x

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  6. Sarah

    Oh Jak. I can hear both frustration and disappointment in your words. It hurts like hell, I bet. Really difficult not to take it personally
    Remember, your blog is equally as important as the study as you reach out to people on a human level and make people realise they are not going through similar experiences alone. Feeling alone can be as crippling or even more so than the condition itself
    I’m not a suckyup to people, kind of a person (it’s like nails down a chalkboard to me) so please take away the sincerity behind my comments
    Sarah x

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    1. Jak Post author

      Bless you for the comment Sarah. I was told that was a “patronizing” thing to say, but I say it anyway even though I’m not the slightest bit religious lol! 😉

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  7. init72

    This just doesn’t make sense at all??

    A GP’s Toolkit has been created and available on the Royal College of General Practioners to help with recognising and diagnosing initially and referrals and this is what it says:

    “This toolkit sets out the latest thinking in EDS, including the new approaches to diagnosis and treatment set out by the International Consortium on the Ehlers-Danlos syndromes in 2017, as they relate to primary care.
    Check the Beighton Score is at least 4 – ‘I used to be able to’ is acceptable”

    Here is the link to it – I would send a copy off to the Trial people with a little suggestion that although they need to be thorough, they are omitting the wrong people and it will affect their results…

    https://www.rcgp.org.uk/clinical-and-research/resources/toolkits/ehlers-danlos-syndromes-toolkit.aspx

    Les xx

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    1. Jak Post author

      Thanks Les. I’m aware of the toolkit and have a link to it on my blog. It’s so frustrating when older people are continually excluded from the hEDS picture. As I mentioned in the post, I also think child-less women are discriminated against by the new criteria. And as you rightly point out, both of these exclusions lead to skewed results IMHO 😦 x

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