How to get Diagnosed with EDS and Dysautonomia – “Google Saved my Soul”

My story of how I got diagnosed with Ehlers Danlos Syndrome (EDS) and Dysautonomia – “Google Saved my Soul – but I’m Still a Little Bit Mad”

OK I’ve been saving this one up. Stewing on it and cooking up my mad woman.

Hence attached photo of angry woman – she is how I feel on the topic to come.   I make no apology for the length of this post, it’s reflective of the time it’s taken me to get the correct diagnosis of EDS…

Prepare yourselves, especially if you’re a general practitioner/physician….

Many of my symptoms, particularly early on when the ‘machine’ initially malfunctioned, bore an uncanny resemblance to anxiety and panic.   Before we knew what we were really dealing with, I was diagnosed with anxiety and panic disorder as the reason for my alarmed bodily symptoms.

I get how it looked. God, even I initially thought it. There was no other obvious plausible explanation at the time my symptoms appeared except ‘stress’. Preceding work stress had not helped my situation.  But it wasn’t the culprit that knocked me off my feet.

I certainly didn’t identify that a simple visit to the hot springs was the thing that pushed my body over the edge. It sounds stupid even saying it. A visit to the hot springs stuffed me right over for nearly 2 years – how believable is that? Ha ha are you joking lady? Err nope.

But that isn’t what makes me mad. No, what gets me mad are members of the medical establishment I’ve seen along the way who have not believed me or availed themselves of my latest diagnoses and/or the latest research.  (That, by the way, I’ve come to know to fill the void that is their knowledge on the subject because of their ‘know it all’ egos and bias getting in the way).  Excuse me blonde neurotic obvious hypochondriac coming through. (Sorry this post is getting more and more sarcastic by the minute).

So today I finally have the confidence to get this monkey I have been carrying (for what feels like forever) off my back. I am cleansing my soul.

Because this week, I was officially diagnosed with Ehlers Danlos Syndrome (Hypermobility Type). EDS HT for short. Yeeha. I am officially NOT some loopy doop hypochondriac.

EDS (a connective tissue disorder) has long been suspected by my specialists as the underlying root cause to my dysautonomia issues.  Defective collagen leading to overly stretchy blood vessels.   But I’ve never been clinically diagnosed. Until now.

I scored a 5 out of 9 on the Beighton criteria which is a simple assessment of one’s bendiness and potential EDSness. I have over extendable knees and elbows and I can still touch my toes whilst standing (impressive for a 40 something). Based on these results along with my soft, doughy skin (I didn’t care too much for that description honestly), my high palate, my stretch mark maze and my autonomic and joint symptoms, Madame Geneticist this week advised me that I meet the criteria for an EDS diagnosis.

So what’s in a name? What does it now mean for me?

Well it doesn’t mean a great lot to the management of my autonomic issues. There’s no change in that. I now have another label to add to my repertoire and it helps explain the joint/muscle issues I also have to now manage.

What it does do is give me something formal to metaphorically ‘stick it’ to those know-it-all GPs who have abjectly diagnosed me with an anxiety disorder or dismissed me as some kind of hypo!

Woo – finally. I’m doing my vindication dance.

I know I’m not alone in this. It is written in so many forums by people who have experienced just what I have.

So this is for all you other crazy Dr Googlers out there who have pursued a diagnosis against all odds….

Here’s some of the classic shit I’ve had to put up with that will be all too familiar…

Right at the start of my two year diagnosis journey, one of my GPs kept insisting for nine whole bloody months it was ‘just anxiety’ even whilst I was on the waiting list to see the autonomic specialist that I pushed hard to see. I had a continuous tremor, was having daily palpitations, dizziness, blood pressure that was all over the shop, breathlessness, exercise intolerance and spontaneous panic waves as well as a growing list of joint and muscle issues. The plethora of anxiety drugs I was encouraged to try just made everything so much worse. Shouldn’t that have told someone something??? When I was finally diagnosed by Spesh, this GP had the audacity to say ‘well we knew it was something didn’t we’. Excuse me?

Prior to getting diagnosed by Spesh, I was also sent by the aforementioned GP to see a special nameless gent of a General Physician who said the following really ‘helpful’ stuff: ‘none of your symptoms make any sense’ and ‘you’ve had too many tests done’. Doctor speak for ‘you are making this all up’. He was so ‘off’ and arrogant I wouldn’t recommend him to anyone. I walked out of there in tears of pure bloody frustration with no answers as to why my body was acting the way it was.

Following my diagnosis, I also tried opening the eyes of another GP at the same practice with some info from Spesh about the suspected hypermobility, the dysautonomia and how adrenaline over-response can give the appearance of anxiety.

Somehow I don’t think this GP read any of it because, recently, I found myself back at the start again having an old anxiety disorder diagnosis wafted under my nose because I still have weird excitatory/shaky shit going on and hadn’t been fixed yet so, gee, there must be something else going on then. What was even worse was, in reaching his decision, he chose to completely ignore an opposing diagnosis from my psychologist (you know, the real expert in these matters). Seriously, what is this?? Ground bloody hog day?? Needless to say I am no longer with this GP or his practice.

And on the subject of hypermobility itself, I saw another GP accidentally with my daughter. It was actually her appointment but this stand-in doctor at our new practice ‘pounced’ on my finger ring splints as soon as we walked in and asked me what was going on with me before proceeding to tell me I didn’t have hypermobility (because he’s seen it), it doesn’t occur with POTS/orthostatic intolerance and it’s not genetic so ‘good luck’ with that geneticist appointment.  All this from just looking at me and all this right in front of my 10 year old daughter! His arrogance and the inaccuracy of his statements completely floored me. Argh. Breathe. Breathe. And this guy was a young GP. God help us.

Isn’t it time GPs looked a bit wider than just the presenting symptom and dug a bit deeper?

You know, help patients seek out and treat the real causes to their issue. That would be novel wouldn’t it?

Hypermobility affects up to 20% of the population.

That’s a flippin lot of people. Hello all you hypermobile people! I know of 7 people in my immediate social circle who all have it with different manifestations.  Amazing what you find out when you start swapping health stories.

It is also on a spectrum (so that means not all of us will pop our joints but we may well have joint and muscle pain) and it can bring about 70 different health issues including dysautonomia, cardiovascular issues, gastrointestinal issues to name a few.

Further, it’s been discovered when looking at it from the angle of psychiatric disorders that anxiety and panic is overrepresented in the hypermobility proportion of the population.

What does that tell you? Well, Sherlock, it tells you that perhaps some people may be being wrongly diagnosed with primary psychiatric disorders when it’s actually a symptom of dysautonomia (or for some hypermobility as the root cause). Or else these poor buggers have spent so long either trying to be heard with no luck getting answers to their issues or have become trapped down the wrong diagnosis path that they’ve ended up with an acquired psychiatric disorder anyway. Oh shit do you think so? Sorry I really should pop sarcastic Susan back in her box.

There is a complete vacuum in the knowledge of connective tissue disorders and dysautonomias among GPs.

And many of them unfortunately don’t realize what damage they do when they make sweeping statements by showing off their uninformed viewpoints in their 15 minutes of fame. At the end of the day, all they are giving is an opinion but, many a time, the way they do that can leave patients feeling completely belittled, disbelieved and, frankly, desperate.

GPs are not experts with complex health conditions – that’s why people like me see specialists (and I now have four). And Spesh no. 4, who I recently met, confirmed I have a baroreflex abnormality in the signals going on between my heart and my brain which explains the blood pressure and adrenaline issues I get from various triggers and the difficulty in getting my condition under control. So go put that in your pipe and smoke it ex GP – this is something that can’t just be ‘fixed’ and my head’s not the issue here. Luckily my new GP, who doesn’t know much about hypermobility and dysautonomia either, has said she’ll be relying on what she’s advised by my team of specialists. I can only live in hope.

With the high proportion of people affected with hypermobility and a growing global knowledge base about it, one would think GPs need to start to get on the train.

GPs are the gatekeepers to seeing brilliant specialists who can help people like me and I fear many people, with much less persistence than I, will simply not be getting access to these wonderful people and the treatment they truly deserve.

But at the end of the day, in the absence of knowing anything much about a complex condition, the biggest difference GPs and some physicians could make to someone like me is very simply to just listen, believe and be open to discover.

I don’t think that’s too much to ask is it?

With a whole bunch of thanks to Google for just ‘being there’ when I needed you, my own sheer bloody determination in pushing for answers and my brilliant team of specialists for saving my faith in the medical establishment and helping me reach the correct diagnoses.

This slightly crazy chick is finally feeling like she can now start over.

For more information on what I was dealing with when  I started my diagnosis journey please see the following posts:

The Poo Truck – all the symptoms I was dealing with right from the start

It’s the Adrenaline Talking – how adrenaline makes it look like anxiety.

There’s also this groovy research article which is a bit heavier reading but shows the connections between hypermobility, dysautonomia and anxiety.

Then there’s this brilliant post from Michelle Roger at Living with Bob (Dysautonomia) who talks in more detail about her own experiences, others’ experiences and the gender bias that is unfortunately alive and well in the medical profession for patients trying to get a diagnosis.