Rare Disease Day - Ehlers Danlos Syndrome

2/29/2012 10:55:00 am BenefitScroungingScum 13 Comments

Today is Rare Disease Day. Whilst Ehlers Danlos Syndrome is conservatively estimated to affect at least 1 in 5000 people, and 10% of the population are considered to be hypermobile, EDS still remains a 'rare disease'. As someone who was not diagnosed with EDS until the age of 28, having been labelled an attention seeking hypochondriac for those 28 years, raising awareness and increasing diagnosis rates is one of my personal missions.

It's particularly on my mind this week after hearing of the tragic death of 34 year old Lois Owen who was diagnosed with Chronic Fatigue Syndrome/ME. Lois was so exhausted she became unable to eat and died from a chest infection she was too weak to fight off in March 2009. Not having enough energy or muscle strength to chew is a symptom I very much recognise, but with a diagnosis of Ehlers Danlos Syndrome I have enough understanding of my condition and the reasons such symptoms arise to work out various ways of managing such issues. Whilst I went without an accurate diagnosis I had no such ability to learn to cope, because how can anyone possibly cope with symptoms that are all supposed to be in their head as they are deemed to be completely fit and healthy?

For me, one of the most heartbreaking aspects of Lois's story is that on seeing her photograph it is immediately obvious that she has widespread joint hypermobility; her shoulders, elbows and wrists are markedly hyperextending, and she also has the classic morphological features of EDS. Doctors are still taught that EDS is a condition so rare they are unlikely to encounter it and so do not tend to use the basic, quick and incredibly cheap tests to consider whether someone might be hypermobile and if so whether they may have a hypermobility or Ehlers Danlos Syndrome.

My hope for rare disease day is that any doctors, nurses, physiotherapists, or OT's out there reading this might think to use the Beighton Scale as a 2 minute test to see if the patient in front of them labelled with ME, CFS, or the less polite 'heartsink patient' has joint hypermobility. It literally takes just a moment, and an experienced eye can spot hypermobility across a crowded waiting room. It's the person who's fidgeting, who uses their hands to gesticulate rather often during speech, who's an odd combination of graceful and clumsy and who repeatedly tells you that they don't know how the latest injury happened... 'it just did'.


erose said...

I love your blog it's always informative and your description of how to spot a person with hypermobility describes my daughter and I to a tee. If only my new Rheumatologist would open his ears and listen we'd get on so much better. Still I should soon have a copy of my Rheumo file from my old team so maybe he'll believe the notes, after all what do I know I'm only the paitent. Keep up the great work, hope all goes well for you.

Flexible Person said...

Thanks for your post. I also have EDS, diagnosed at the age of 28, ten years after my debilitating symptoms began. Before I was diagnosed, I was told to my face by a GP that I was a 'heart sink' patient, and that it was a 'negative attitude' that made me too ill to work. I'm still getting my head around the fact that, if only I had had those cheap, simple tests for EDS ten years earlier, I would have been saved all this, plus incorrect diagnosis and inappropriate treatment.

All the best, good luck.

Hello said...

Wonder how many school children have this....could be classed as emotional difficulty which can turn into behavioural too. A diagnosis would change lives in instant. Good article Kali.

I discussed Lois's death with some people in the ME community yesterday including someone who knew her (online, as she was bedridden and could not get out). Her condition was very classic ME and autopsy findings were similar to those of other people who died of, or with, very severe ME. I am not sure how her hypermobility contributed to her ME, as there are a lot of people with both, or with an ME-like condition that is later rediagnosed as EDS, but it does sound like her condition was cared for as best it could be. I wrote a more detailed article here after the discussion I had.

Also, someone with injuries that always "just happen" could be a victim of domestic violence.

FibroNewbie said...

Many people who are hypermobile also have Fibromyalgia which is also a condition that very little seems to be known about and one where people constantly misjudge you because you look okay on the outside, sometimes I wish pain showed green then maybe people wouldn't think you were putting it all on!

misspiggy said...

If EDS were looked for and found more often, therapies could be given to stop it interacting with/causing other conditions and killing or severely disabling people.

There are so many red EDS flags when you look at the pictures and the article on Lois. The hands, the skin, the angle of her head, the leg pains, the not eating. The eating issues could perhaps have been mitigated if some of the amazing expertise in this country on EDS & gastric problems had been accessed. Managing exercise needs to be done differently with EDS, as the usual 'pacing' advice for CFS needs a lot of modifying if it's not to worsen things for bendies.

It's such a good question - why won't most GPs try a few simple diagnostic tests when they see cases of CFS, ME or fibromyalgia? They know something else is usually a causative factor. Why is a blood test for arthritis the only thing most GPs do?

Luckily the 7th GP I asked did do the basic diagnostic tests for hypermobility - after I asked him if I was hypermobile, that is. It took 25 years to get relevant help, from the age of 11. Kaliya's blog is one of the reasons why I got help before I lost everything.

emwithme said...

I must check with my new GP since I've changed surgery. When I mentioned to my old GP that I wanted a referral to a rheumy to get officially diagnosed as hypermobile, he pulled my finger (which was never that bad anyway) and said I wasn't hypermobile because he couldn't dislocate my finger. I asked if he wanted to check anywhere else - or look in my records - but he said there was no point. As a child, I was my ballet and gymnastics teachers' dream child - I could do the splits three ways, could do all manner of things bending backwards etc, and as a teenager was in and out of hospital with dislocating/subluxing knees/hips ankles. As a 30-something (with a similarly high BMI) I can still touch the floor behind my feet, I regularly sublux my hips getting up to nortiness, and my thumb is regularly difficult and slips out of its socket. Oh, and I can still put my big toe into my belly button.

My niece is clearly hypermobile (but undiagnosed), but fortunately my nephew (different sibling) was referred to portage when he still wasn't walking at age 2 - his hips were subluxing so much he couldn't weight bear. I have made my brother promise he won't make him do any gymnastics because I'm worn out now.

Out of all the people I know with ME/CFS, about three quarters of us have some degree of hypermobility. In fact, for me, it was finding out that other people couldn't bite their own toenails that led me to think something was wrong. If you've always been able to do something, it becomes normal!

misspiggy said...

wtf - how is trying to dislocate a finger a recognised test for hypermobility? I can't see how a GP can legitimately block a referral to an expert for diagnosis because their completely made-up diagnosis failed? Sometimes just repeating, 'yes, but I have the symptoms of (x) and I want a referral to a consultant with the correct specialism for diagnosis' can help. Good luck with the new surgery!

Toulouse said...

Hi Kaiyla, i poped over here from Sue's blog. I was dx with Fibro in 2004 age 37 and the (private) the rumatologist said in letter to my GP (I too was a hearsink patient!) I had quite lax elbows, fingers and wrists but my skin was fine. I didn't think much of it at the time, both my daughters are very bendy too.
My husband says he fell in love with my fine porcelain skin (a lot of my veins show blue and some viens wont work for blood tests, drips etc and big blue eyes (high mopia!at -11 they are pretty big) I was great at ballet but rubbish at anything needing hand eye co-ordination. My sister can still forward flex with hands on the floor but I'm a lot less bendy with more spasms now im old. I have over-use injuries in my shoulders, elbows, wrists and just had TVT bladder surgery after years in pills. As I get older I am in more pain, my IBS and colitis are worse, I don't chew my food either, it is tiring. I have realised reading your blog and following links that I also have other things, tiny jaw, tmj, dowagers hump, crepitus in my knees, neck and fingers... What exactly do you mean by the way she holds her head?
I'm currently trying to find out more about being 'hypermobile' due to being migrated from IB to ESA and fearing the worst, but not putting anything much about hypermobility on the ESA as I didn't realise the extent of it before I found your blog. So thanks and keep up the good work, I really hope you get your chair soon :-)

Georgiepooh said...

my doctors didn't listen so i printed of articles with lists of signs and symptoms and ticked all the ones i had them presented them. after seeing that they either believed me or wanted to get rid. lol since then i have been diagnosed as have two of my three children.

Unknown said...

Isn't it the case for some people that as they get older or if they don't have the support or education that their muscles over-compensate to try and counter the hypermobility?

Anonymous said...

Dv doesn't cause hyper mobility though and certain eds types can also be diagnosed by biopsy and blood test It's crap having a syndrome and then being asked if your battered or if you batter your kids