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.
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 😦
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.
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.
“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?