Sat in the waiting room of The hospital of St Johns and St Elizabeth’s, my stomach full of knots and head whirling with thoughts waiting for what seems like an eternity for the door to open and my name to be called.
It’s August 14th, 2015. We had got a late train down to London the previous night and stayed in a little hotel, I couldn’t sleep last night nerves most definitely got the better of me.
We had travelled down to London to see one of the country’s leading rheumatologists who specialises in Ehlers-Danlos Syndrome. You see, it wasn’t the first time I had heard those three letters ‘EDS’ before in passing and who better to confirm or deny than a leading specialist.
Id complained of joint pain as a child, when taken to the doctors it was always attributed to growing pains, reasonable really considering I was a growing child. I was 11 when I had my first dislocation. I remember it like it was yesterday. I was lay on the sofa watching TV at home I turned ever so slightly and my right knee cap just popped out. I started to shout as I had no idea what was going on other than the fact it hurt like hell and looked disgusting. My instant reflex was to bend my knee (NEVER ATTEMPT TO BEND A JOINT WHILST DISLOCATED). I howled with pain, my Mum ran over whilst my brother ran out of the room (I don’t blame him). Instinct kicked in to knock the cap back and low and behold it went quite easily back into its rightful place. My knee throbbed for days and for a few weeks felt very uneasy, I was petrified it was going to pop out again.
Over the course of years this became quite a frequent occurrence. If my knees weren’t dislocating they were popping, clicking, crunching and giving off wild pain. I had to constantly move around, stand up, sit down, bend and straighten. They would stiffen up and throb. I’d wake often in the night having to lift each leg out of the bed and do a little circuit of the bedroom. Driving could be painful, frequently needing to pull over, get out to stretch my knees whilst holding the caps in place. Navigating the stairs was a challenge often shuffling myself up and down on my bottom. Over time my wrists, ankle, fingers and right shoulder joined the dislocation party!! What was this party and why was my whole body involved? This was one party I did NOT want an invitation too!! Sometimes I could relocate the joints myself and others warranted a trip to A&E.
Throughout these years, I had seen several specialists from endocrinologists, immunologists, physiotherapists, dermatologists, gynaecologists and so on!! Again, having a multitude of tests and going around the ‘diagnosis circle’ of spondylosis, arthritis, lupus, Addison’s disease- all sorts was branded about.
The first time I had heard of EDS was from a physio who in passing mentioned I was very hypermobile. I went home and consulted Dr Google. The information at the time on EDS was very limited and did not cover what it entails. Due to how sparse the information was I could not connect everything to it. It was then mentioned by a rheumatologist, I had gone regarding all my joints as at times they would swell and the current theory was an auto immune disease of some ilk. The rheumatologist looked at the MRI of my knees and mentioned both were subcluxed (partially dislocated) and were mal tracking. She then examined the rest of my joints saying “You’re very Ehlers-Danlos ’y’ “ She took this no further and sent me on my way with steroids for my swollen joints and a referral to orthopaedics and physio. It was then at the orthopaedic appointment it was mentioned AGAIN how hypermobile my joints were. We discussed a potential knee operation but the likelihood of the pins popping out and further surgery was high so we agreed on more physio. Once home I typed Ehlers-Danlos syndrome into the search engine again, bearing in mind 5 years had lapsed since I last consulted Dr Google after it was first mentioned. I could not believe the information before my eyes, it was me. Joint dislocations, gastrointestinal problems, bladder problems, chronic joint pain, back pain, fatigue, insomnia, headaches, palpitations…I went through the list, methodically ticking the symptoms off in my mind-tick, tick, tick. The information was MUCH more advanced than 5 years previously.
I took to social media to hunt down EDS support groups. As I sat reading posts from other sufferers for the first time in my life I could relate and connect my broad ranging symptoms to theirs. Even more evident was the commonality of years of anguish before a diagnosis was made, a very late diagnosis. I built up enough courage to write a post outlining my current situation with symptoms and my history. Many people came forward offering excellent advice and support. The one piece of advice that came up numerous times was getting booked in at The hospital of St Johns and St Elizabeth’s, London to see one of the country’s leading experts in the condition. After discussing with my family, we came to a unanimous decision that I must go and consult with this expert.
“Alison Turner” Oh heck, that’s me. In I went.
The consultant was a very warm mannered man. He listened attentively as I discussed my symptoms over the course of my life from joints, fatigue, pain, tremors, palpitations, insomnia, stomach etc. Of course, to be thorough I had sent my medical history over in advance so he was armed with all information whether relevant or not. I was asked if he could do a thorough examination of my joints. Each joint was meticulously examined, moved, and even listened too. Next I was asked if I could perform a series of movements with my joints, this is known as the Beighton scale and is used to quantify joint laxity and hypermobility. See images below-
Image 1- Elbows bend backwards more than 10 degrees.
Image 2- Thumbs bend back onto the front of your forearm.
Image 3- Fingers bend at a 90 degree (right angle) to the back of your hand or little finger bends at a 90 degree angle.
Image 4- Knees bend backwards more than 10 degrees.
Image 5- Hands placed flat on the floor with your knees straight.
I then had to stand straight whilst my spine and posture were assessed. Following this my skin and scarring was examination, my skin was pulled at various places mainly my neck, hand and elbow. Finally finishing up by listening to my heart.
After the physical examination, we discussed my symptoms further and family history. I felt quite uneasy with mixed emotions at this point, I had no idea what he thought and I wrestled with ‘If I’m diagnosed at least its finally an answer Vs I don’t want to have a chronic condition’. “Without doubt you have Ehlers-Danlos Syndrome Type 3 with classical cross over and Marfan habitus features. I kind of froze at this point whilst the consultant discussed why and how he came to this conclusion. On examination he said hypermobility was demonstrated at the CMCs, fingers, wrists, elbows, shoulders, hips, ankles,mid foot and patella with subluxation and mal tracking. Repeated dislocations and subluxations of numerous joints (knee and wrist in the consultation as well). Recurrent soft tissue injuries and Arthralgia. Scoliosis of thoracic spine. He noted bruises on my skin, wide thin scarring and hyper elasticity. Gastric dysmotility, local anaesthetic resistance, postural symptoms of pre-syncope and syncope suggestive of cardiovascular autonomic dysfunction, tachycardia, headaches and urinary issues suggestive of pelvic floor weakness and bladder wall elasticity.
The consultant created a plan of action. I would need to see a cardiologist for my tachycardia to be assessed, urologist to have my bladder symptoms investigated, he recommended isotonic drinks in the interim to try and help with the syncope. A physiotherapy rehabilitation programme, possible neurologist to get the new and crippling headaches investigated. He sign posted me to educational and supportive resources of the condition. On leaving we shook hands and he told me if I needed anything this was an open appointment and not to hesitate to contact him and a report would be sent over to my GP.
The waiting room had filled up in the hour I was in the consultation, I gave my partner Nick the nod and made a speedy exit to the door. “I’ve got it” was my response to being asked how it went. We sat outside the hospital, the busy London hustle of people and traffic I rang my dad “I’ve got it” there those three matter of fact words again. My dad was upset, I found myself going into more detail about what the appointment entailed. I was very weak at this stage exhausted from the travel, lack of sleep and emotions we headed over to the Beatles café across from the hospital and had a quick cup of tea we didn’t have long before the train home and all I could think about was getting to the station in one piece. I wanted to go home.
As soon as I found my seat on the train my headphones went in, I didn’t want to talk, just think. I stared out of the window the entire way home, random mixed emotions infiltrating my system. I felt sad, relieved, validated, angry, exhausted, worried and back to sad again. I couldn’t compute the emotions, I just went with them. I shed a few tears but on the whole I was very quiet and composed.
A few days after arriving home my consultation/diagnosis letter arrived, seeing everything in black and white I suddenly felt quite aggrieved. I wanted to photocopy it and send it to every doctor who judged me. I knew I had to keep myself together as a new battle was ahead in obtaining help for my symptoms and investigating the new headaches that had seen me in hospital on several occasions with suspected strokes and bleed on the brain.
Little did I know at this time, just what lay ahead of me.