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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Adventures With Roboleg Part 2 – Roboleg is back & this time he has company

It’s been a week since my kneecap decided to fall off because I turned around. That’s a week in a straight splint. A week of me openly swearing at my inability to bend my leg. A week of having a battering ram at the front of my wheelchair. A week of using crutches where possible, but trying to keep the weight off of the left knee whilst simultaneously making sure roboleg prevents the right knee from giving way and my SI slipping. I think we can agree that I failed on all counts there, but I’ve kept my legs moving and I haven’t completely lost my temper, so not a total fail.

I have a lot riding on this appointment (probably more mentally than anything) – mainly the decision to ditch the splint so I can return to some kind of normality (and work as I can’t get the chair + leg riser around my classroom).

What I’m hoping for is:
– removal of the “bloody splint”
– replacement with hinged brace (to prevent more bending backwards / rotating)
– no care free manipulation of joints
– not being fobbed off with tubigrip

Running nearly 90 minutes behind schedule was doing very little for my nerves  (or those of my poor dad who was looking after the munchkins).

What happened was:

Initial recoil when I mentioned EDS (at least she knew what I meant) & comments on how over extended my knees are. Well yes…  To give her credit, she was very cautious when manipulating my knee.

– “bloody splint” was removed + ceremonial placing of it in the bin! (Apparently the NHS do not recycle)

– leg is now supportless and wobbling free.

– warning was duly given to me that the joint is so wobbly that it’s inevitable that it’ll happen again. (Joy)

– Having another hinged brace is up to occupational health as it can cause muscle wastage. Referral will be made, but there’s an 18 week waiting list (or I need to buy one privately )

– made a referral to the Physio team who didn’t want to see me before because EDS was too complex. Could be interesting. Will take at least 3 weeks to get in contact for an appointment, unless I dislocate again, because then the clock resets and a new referral needs to be made.

…and then…. are you ready? … are you sure?… hold onto your pelvic floor…

The Dr says “Walk on it as much as possible” to the woman sat in a wheelchair.

Yes, I laughed (because tbh, we’re at that point). Dr looked at me & said “Ah yes. Good point”.

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So second roboleg is winging it’s way from Amazon as I have no intention of pushing my kneecap back into place again unless it’s totally necessary thank you very much.