Ehlers Danlos Syndrome and Me

*Trigger warning* contains medical references and images of anaphylaxis.

This is a looooong post.  I’ve written it so that whenever I mention my disability on my blog, I can link to this post for information rather than explain again and again.

I have Ehlers Danlos Syndrome or more specifically hEDS – hypermobile Ehlers Danlos Syndrome.

In basic terms hEDS is a connective tissue disorder – I have faulty collagen.  It’s a genetic condition and it gets worse over time.  The symptoms can vary from person to person but broadly, people live with widespread pain and fatigue, loose joints that dislocate and weird skin.  Fun!

EDS has a couple of comorbid conditions.  Which is a posh way of saying that if you have EDS then you’re more likely to suffer from things like POTS (postural orthostatic tachycardia syndrome) and MCAS (mast cell activation syndrome).   POTS causes blackouts, fainting episodes – something that plagued me in my twenties and MCAS causes issues with histamine levels in the body sometimes leading to anaphylaxis – something which is plaguing me now in my thirties.  So I’m half expecting to be diagnosed with one or both of those at some point in the future.  I mean I’ve never liked missing out 👍

Anaphylaxis mast cell activation syndrome allergic reaction Ehlers Danlos I can only describe how the condition currently effects me because it really is different for everyone and it changes over time and based on experience.  For example stress, trauma, injury and illness can speed up or activate symptoms and they generally get worse as you get older.

Although my official diagnosis came only recently, I was born with hEDS.  There are lots of symptoms that I’ve been experiencing for as long as I can remember, but I thought they were normal.  For example I genuinely thought that everyone was in some amount of pain all the time.  Because I’ve always been in some kind of pain, my whole life.   Early on the pain was sometimes subtle and constant so that I wouldn’t even talk about it.  Sometimes my joints would really hurt – this was explained as growing pains, even by my GP.

I was considered clumsy as a child and adolescent – I was always ‘tripping over my own feet’.  A big chunk of my childhood was spent waiting for x-rays or hobbling around on crutches!   Now I know better.  Far from being a clutz, my ankles were probably giving way, which they frequently do these days, causing the falls.

Oftentimes I would be convinced that I had dislocated my joints.  I remember grabbing my wrist after taking a knock in a high school netball game.  I was so sure that my bones had moved somehow.  Once my teacher was sure that I could move the joint, she loudly proclaimed me a drama queen and told me to go back to the game.  Who knows – perhaps the bones HAD moved.  They certainly do alot of that now 😂

My skin has always been sensitive – prone to soreness, slow to heal and easy to tear.  But it’s also always been extremely soft, which is a bonus symptom of EDS.  There have to be some positives right?!

I used to think that being bendy was a good thing too!  Doing the splits was a party trick of mine ‘back in the day’.  Now I don’t see it that way.  I ‘hyperextend’ my joints, often without realising and it causes damage.  My elbows bend backwards, my knees too and even the way I hold a pen features the unhelpful hyperextensionof my thumb and forefinger.  And 35 years of hyperextension is starting to take it’s toll.

I finally put the dots together after seeing a huge downturn in my health and approached my GP for advice.  She had to go away and research the rate condition before referring me to a specialist for an official diagnosis.  In a year I’ve gone from being less than 100% well to being really quite poorly.

Having badly dislocated my left hip during labour, I now have arthritis.  I think my left shoulder is going the same way following an injury last Autumn.  But all of my joints are painful.  My right kneecap keeps moving out of place (much to the horror of Beth who has to leave the room while I move it back!), my right forefinger knuckle seems to have abandoned it’s place in life, my ankles give way ALOT, normally resulting in me landing in a heap on the floor.  But everything hurts.  My wrists, my back, my elbows.  Everything.  Sometimes I can’t lift my arms above my head to wash my hair or tie my shoes.  Yes it’s THAT BAD!

I suffer from extreme fatigue.  Partly as a symptom of EDS and partly because the pain and regular subluxes (partial dislocation) mean that I sleep poorly.  I get terrible brain fog which effects my memory, my mental health and my ability to manage my own life!   EDS affects my digestive system (oh yes connective tissue holds up your organs too) causing IBS symptoms and my skin tears and blisters from even little knocks from Dorothy giving me a hug or from the zip on a pair of jeans touching my abdomen.

MCAS symptoms have hospitalised me with anaphylaxis…twice!  I now carry epi-pens everywhere I go.  If I need for it to be administered, you can all fight over who gets to reinact that scene in Pulp Fiction.

My mum and one of my sisters also have EDS.  As I said it’s hereditary but it’s considered rare.  Although it’s generally diagnosed by a rheumatologist (mine was very pleased to meet someone with Ehlers Danlos!) it isn’t treated by them – not least because there isn’t really a treatment.  When I discussed my unstable ankles with the rheumatologist, he said ‘oh yes that’s down to EDS.  But I can’t help you.  There’s nothing I can do.’  I can’t tell you how hard it is to get your head around that – being given a diagnosis but without a plan to make you better.

In fact diagnosis is often the last time you see the rheumatologist, until a joint becomes arthritic.  They look at lots of things to confirm the condition but the most famous is the Beighton scale which is a measure of your loose joints.

EDS is managed as opposed to treated by physiotherapists, occupational therapists, pain management specialists, dermatologists, immunologists, podiatrists and lots of other people with ‘ist’ as part of their job title!  Managing the condition often involves mobility aids, walking sticks, splints, braces and wheelchairs.  Whatever is needed to assist and allow the person to lead as full a life as possible.

EDS people have good days and bed days but even on good days we’re tired and sore so be kind.  Plus we never know what tomorrow will bring.  Here’s me feeling quite good one day and then struggling to hold my joints together the next, travelling to an appointment and realising that my face is swelling up 🤷

Keeps life interesting I suppose.

I’m sure it goes without saying that with a chronic illness like this, depression and challenges to mental well-being are common.

So this has been a rather glib post!  Let me close with a positive.

Since my symptoms have become more problematic, and have forced me to slow down, I have found that my mind seems to have sped up.  Brain fog aside, I’ve become a much deeper thinker.  I’m more mindful and meditative then ever before and it’s bringing me some peace.

I said to my physiotherapist last week that my body was working against me.  She said no, you are working against your body.

This is still my body.  It’s the body that made my two daughters, it’s the body that has carried me on adventures around the World, it’s the body that has embraced and has been embraced by all the people I’ve known and loved in my life.  It just needs me to listen to it and learn what makes it tick these days.  I need to give it more time and attention and be kind to it.  I need to learn to love it again, dodgy collagen and all 😂

Please don’t use any of the information I’ve given you to diagnose yourself.  I’m most definitely not a doctor.  Should you want some more comprehensive information about Ehlers Danlos Syndrome, take a look at the EDS Charity’s website.

Love Rachel ❤️