Ehlers Danlos Syndrome for Dummies (and orthopaedic/rheumatology consultants)

I was asked to guest blog about EDS and all my weird and wacky braces. It’s taken me an age to get to it due to yet another injury and total brain deadness. But here it is.

EDS. Three little letters that took me from asking “how do I fix this?” to “how do I live with this?”.

What is EDS anyway? Endless Drug Schedules? Expected Drug Seeking? Every Dislocation Smarts? Expect Drastic Surgery? Excessively Declaring Sexytime?(some hope!) Oh, Ehlers Danlos Syndrome. Wait, what?

Ehlers-Danlos Syndrome is a group of inherited connective tissue disorders, caused by a defect in the synthesis of collagen. In normal person speak, collagen in a body is like cement and plaster in a house – it holds everything together and makes the walls smooth. If you have EDS, your genetic make up of your collagen is defective and this causes problems. Without the mortar, the bricks keep slipping and eventually all you have is a big messy pile of bricks asking for better drugs please. If your electrical connection also go squiffy, the signals through your house will also go wrong. Generally, for EDSers this means any connective tissue (skin, organs, muscles, ligaments, tendons….) is not so much elastic, but chewing gum. Things stretch further than they should and snap when they shouldn’t. Bones that should be connected to the next one find that they aren’t. Certain people also find that ironically the condition that causes so much pain also prevents the body from feeling all or some of the effects of many types of analgesia. It’s just the gift that keeps on giving!

Some people are just flexible, and that’s not a problem. Being flexible doesnt mean you gace EDS (in face having EDS doesnt mean you’re automatically flexible). The problem arrives when having a few freaky party tricks causes long term pain and injury. Just in time for Valentines, I noticed that I can make a heart with my shins just by letting my legs relax…. Mr Geek didn’t find this quite so romantic.

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Some with EDS find that with the correct braces and physio support, they can lead relatively normal lives, whilst others are entirely unable to work and spend a large percentage of their days bed bound. I count myself very lucky that I’ve been able to maintain my teaching job through a combination of every brace known to man, highly sensitive adjustments from my employer, travel assistance, my husband acting as a carer, and me being so bloody minded. This is not to say that I don’t have days where I cry and ask to just stop this maddness, and by Thursday without fail I am beyond exhausted and in more pain than I can tolerate, even with the drugs. But, I will keep working. I won’t be lost to this stupid syndrome. Not yet.

There are different types of EDS, and even then each type includes a whole spectrum of symptoms and impact. These range from Classical EDS with its stretchy & paper like skin with widened scarring, to vascular with its seemingly less intrusive symptoms until you include that whole pesky sudden death from massive heart failure. I was lucky enough to be diagnosed with type 3 (hypermobility) with a type 1 (Classical) crossover. Some doctors refer to type 3 as ‘benign hypermobility syndrome’. Sounds harmless? Here’s a list of common symptoms for type 3:

Frequent joint dislocation/ subluxation (partial dislocation)
Migraines
Chronic pain
Chronic Regional Pain Syndrome
Acute pain (from dislocation, muscle tears etc)
Chronic fatigue
IBS symptoms
Mitral Valve Prolapse
Intestinal Prolapse
Uterine Prolapse
Premature labour
Sight malfunction
Slow intestinal transit
Gastric paresis (stomach stops digesting)
Bladder paresis
… And others.

Benign eh? But that’s just the doctors who believe you.

I’d had strange joint pains from an early age, and have always made weird popping sounds as I move (like a nasty bowl of cereal) which were generally dismissed as just growing pains, then just attention seeking, then just pregnancy, then just poor fitness, then probably just osteoarthritis… As each went on, I acquired various joint supports that started as tubigrip and evolved to the fully hinged metal exoskeleton style braces I wear now in combination with a powered wheelchair. That was a lot of just being dismissed because doctors see the symptoms and aren’t well versed in putting together the puzzle pieces of a rare(ish) condition.

I have a number of supports that I couldn’t do without.

Robolegs – hinged leg braces that prevent the wonky knee seen at the top (that was taken after we’d yanked it back into place). And my trusty pill box which holds all the pills that prevent me chewing my own arm off.

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My wrist splints are now just part of me, and yet I have no photos of them?!

My inflatable neck brace gives me the ability to gently lift my head and take some pressure off of my cervical discs. This is one to be used with caution, especially amongst the more bendy people. The last thing we need is a neck injury.

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My more discrete neck brace, which is easily covered by a scarf. Particularly useful for travelling to stop the juddering rattling my head about.

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I was diagnosed at age 35 when a new GP saw me for yet another painkiller review after over a decade of asking for help. My mobility was becoming more and more affected by this strange joint pain and random injuries that seemed way over the top for minor trips or falls (like dislocating my pelvis by tripping over a rabbit hole! Or this week, dislocating my shoulder by transferring out of my wheelchair!). She had been reading my notes with a view of removing my long standing prescription of opiates, but when she saw me asked if I was able to do a set of tricks.

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Taking a set of photos of each new weird thing I discovered (that previously I had considered totally normal) prevented me from having to become a performing monkey at every appointment. Eventually, I created a behemoth of a mind map with these photos using a phone app and emailed it ahead of any appointment with a new medical professional.

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Some of the weird bendy stuff I do

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Not just bendy, but other freaky things like a high palette, sticking your tongue up your nose & the reverse namaste

I later found out that she was testing a thing called the Beighton Scale and that I scored 8/9, and it would’ve been 9 before slipping several discs & the rabbit vs. pevlis incident. Unlike every other doctor, consultant, physio, chiropractor and osteopath before her, and oh my there had been all of those and more, she recognised the signs of Ehlers Danlos, not because of any medical training, but because a friend of hers had been diagnosed with it.

Her colleagues however, were less inclined to agree and demanded a rheumatologist make a formal diagnosis and continued to refuse that I was in the daily pain I described. By this point I was using a wheelchair on a daily basis and was described to another doctor (in front of me, but over the top of my head) as having “taken to her chair” like being in this bloody thing was a lifestyle choice! Or, something out of a Jane Austen novel. In one particular appointment, I dislocated my jaw to show how easy it was. That worked.

It took over 6 months to see a local rheumatologist, in which time I had declined rapidly. It seemed that the virus earlier that year that had prompted me to visit my GP had been a catalyst for things to decline. By the time my local rheumatologist saw me, we’d already been privately to the London Hypermobility Clinic for advice & a diagnosis and instigated private referrals for autonomic testing and gastric complications. Arriving at my NHS appointment, I was exhausted from months of investigations and the dreaded disability paperwork that comes with getting ill. I was unsurprised that he confirmed the diagnosis, and by that point was used to doctors saying they weren’t experts (by now, the only ones who were charged more than a month’s salary for a 30 minute chat). What disappointed me was being discharged from his list to the pain management team with an assumption that’s all that is required.

So, those regular checks for potentially lethal mitral valve prolapse? Ignored. Investigation into why I can’t swallow properly? Not needed. Plan to deal with daily subluxed joints? Morphine & neuro blockers.

Doctors don’t like Ehlers Danlos. They signed up to fix people & we can’t be fixed. Instead we are shuffled off to be someone else’s problem.

One day, I’ll be more than just a drain on the NHS. Until then, despite my frustration with certain senior clinicians, I continue to support the junior doctor strikes, because it’s the front liners with smaller egos who listen, want to learn more, and ultimately stick me back together like a Lego creation to go and figh another day with the orthopaedic team. These dudes and dudettes are still perky after the longest of long shifts and mean that despite the odd moment where a limb tries to divorce my body, the nights I sit up blogging because x and y hurt too much to sleep, and the drugs that make my once trademark hair come out in clumps, I can get on with life. Albeit with some high tech adjustments.

Be cheerful. It irritates the crap out of people 😉

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10 thoughts on “Ehlers Danlos Syndrome for Dummies (and orthopaedic/rheumatology consultants)

  1. You, my dear, are not a drain but a fountain. I hope you always keep your fighting spirit.
    The line about not giving up your work and not getting “lost” got to me as I have done exactly that. I took early retirement and a huge financial hit because I literally couldn’t hold it together anymore.

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    • Oh I really hope I didn’t upset you!
      I know it may come some day and I don’t judge anyone for doing what’s best for them. It’s a lot like parenting – different things for different people xxx

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      • Oh no, not at all! It just hit me how this stupid condition has determined my existence. It is all good though and I am managing. I refuse to let EDS mean Endless Downward Spiral:-)

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      • I do consider myself lucky that my kids were teenagers when I started on the use/pain roller coaster. I could not imagine when that ride gets so tough I can barely take care of myself and having to care for a young child who needs to be fed and bathed and or, God forbid, picked up. I already worry about what I will be able to physically do if I am blessed with a grandchild.

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  2. Fantastic description – looking at your photos is like looking in a mirror! When I went to the Hypermobility clinic at UCL to finally be diagnosed aged 44, I was told that people with EDS should never have fusions……..she knew full well I’d been fused already!! As student nurse 25 years ago the surgeons at Stanmore orthopaedic hospital were fascinated by this bendy youngster….no name for it then, and I had to stop rowing due to the frequent dislocations on the Thames, but little did I know how much aggro it had in store for me and eventual registered disability. My kids are now showing more and more symptoms as teenage hormones kick in…….good to have others to stick together with, laugh and cry!

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  3. Pingback: Ehlers Danlos Syndrome for Dummies (and orthopaedic/rheumatology consultants) – Pain Pals

  4. Great post and sadly, I relate to much of it. “Taken to her chair” like something from a Jane Austen novel made me choke on my tea. 😂
    I feel like I need a wheelchair and spend every day right now stuck in bed, but no one seems to want to give me one. Despite no one being able to provide any adequate pain management so I can actually walk. So I just get more socially isolated and get more muscle wastage the longer this drags on!

    I am currently seeing a physio at that Hypermobility unit. Did you see Dr Mittal there?

    Arianne x

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    • I did! She’s so lovely. Completely understood why I was so overwhelmed by a diagnosis I knew was coming & gave me clear ideas for moving forward.
      That was a year ago this month & although I’m still going downhill, it’s nowhere near as quickly and using the wheelchair (especially the super lightweight manual chair) has improved my quality of life dramatically.
      Btw. I got my chair privately. It was 2nd hand as new active user chairs are 😲, but it made such a difference. I’m still waiting for my wheelchair assessment a whole year on!

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  5. Wow! This certanly is what I look like and how I can bend.
    Sadly my 5 month old daughter had a bleed on the brain, me and my partner have had her taken away under suspicion of shaken baby syndrome… guess what> It wasnt that at all! It is the fact that she has inherited ehlers danlos from me. I am going to a rheumatologist in London privately this week hoping for a diagnosis so that i can get my daughter back.
    Keep strong and your page is great to read. It is nce relating to others.
    Chin up and keep smiling xx

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