Wednesday, 23 May 2018

How I got my Ehlers-Danlos Syndrome diagnosis - EDS Awareness Month

May is EDS Awareness Month and so, because I have EDS, I wanted to write a post to help people understand a bit more about Ehlers-Danlos Syndrome. I’ve already written about my Invisible Illness Story, what it’s like Living with Digestive Problems and about Week One, Week Two and Week Three on the Stanmore Rehabilitation Programme. So I was trying to think of something different I could talk about this month. I asked around a few friends, some Facebook groups and also on Instagram, and one topic I was asked about a few times was ‘How did you get your EDS diagnosis?’ The short answer to that question is “With great difficulty!” And so, because of the length of time and immense struggle it was for me to get the correct diagnosis and the fact I know a lot of people go through the same problems, I felt it might be a helpful story to tell you. 



I should probably start by saying there are lot of different routes to being diagnosed with Ehlers-Danlos Syndrome Hypermobility Type and so this post will only document my particular route and symptoms. I also need to include that I’m by no means a medical expert – I’m simply a person who has the condition and therefore has a lifetime of experience on looking for answers! My journey to diagnosis spans 25 years, but I truly believe it shouldn’t need to take this long and so by educating medical staff and people with symptoms, the journey to diagnosis should be much easier.

My story starts on the day I was born, although we didn’t realise it at the time. When the doctors came to do my newborn checks, they realised I had Developmental Dysplasia of the hips (DDH), which basically meant the ball and sockets of my hip joints hadn’t formed properly. This caused my hips to dislocate when I moved, and was treated with a fabric splint known as a Pavlik harness. I wore this continuously for a number of months and according to x-rays, my hips finally developed to a normal position. However, despite them appearing normal on x-rays, I have always had issues with my hips dislocating and subluxing (partially dislocating). It was just put down to being ‘one of those things.’ 



This saying soon became quite a big part of my life. As a very young child I started having problems with urinary retention, but my parents were told that girls couldn’t go into retention (completely incorrect) and again, that it was just ‘one of those things.’ I would often end up in A&E with painful joints and muscles, but these were always diagnosed as sprains and strains and I was just labelled as being clumsy (and probably a bit of a hypochondriac). Throughout my childhood I had all sorts of apparently random symptoms and problems, which, of course, were always ‘just one of those things.’ And so, because my doctors didn’t show any concern, neither did we. That was until I hit the age of 15.

At this point, my symptoms started getting a lot worse. I was exhausted and in pain all the time, was having all sorts of strange problems with my digestive system, my heart was always racing, I felt really faint and it felt like every day something else was going wrong with my body. My GP was my first port of call, and they ran some basic blood tests and sent me for an ultrasound of my abdomen. These all came back clear and as my symptoms continued, my GP referred me to a paediatrician and gastroenterologist. They ran a few further tests (more bloods, a barium swallow and I think a brain MRI). But the tests were all coming back normal, despite my worsening symptoms. As time went on, we still had no answers and the gastroenterologist stopped seeing me because they thought I ‘just’ had IBS (Irritable Bowel Syndrome). In the end, my Dad started doing some research into my symptoms, and came across the condition M.E. He asked my paediatrician if she thought I might have it, and her exact words were, “Well if you believe in that then we’ll call it that if you like.” Not helpful in the slightest and she was completely misinformed about M.E. Still, that’s the diagnosis I ended up with.



The M.E. diagnosis pretty much put a stop to any further investigation of my symptoms, and I was referred to the children’s mental health team (again, even if my symptoms were all caused by M.E. a physical health doctor really should have looked after me!) The next few years were difficult – with very little support for my physical health and with worsening mental health because of this, I ended up in a psychiatric hospital. No one was interested in my physical symptoms – I was either told they were psychological or all down to having M.E. This made it incredibly difficult to get anyone to listen to me. Then in 2012 I became very unwell. My digestive symptoms suddenly got a lot worse – I was losing a lot of weight and went downhill very quickly. I had various tests including a stool sample, gastroscopy and colonoscopy, as well as various scans, but no answers were found as to what was causing my problems. I ended up being admitted to hospital for tube feeding and further tests, but when no answers were found it was all blamed on psychological problems. This led to a mental health crisis and I was sectioned.



It was only after I spent a couple of years getting my mental health back on track that I finally found a GP that took my physical health problems seriously. Without her input, I’m honestly not sure where I would be today. I had been doing some research and talking to some friends, and at the same time, my GP had a friend with EDS who she had been talking to. The key moment was when I went into hospital due to problems with my gall bladder and the nurse happened to leave my notes on my bed with me. So of course, me being the nosey person I am, I decided to have a flick through! I came across a report from when I was very little – probably under two, in which a doctor had written that he believed I could have a connective tissue disease. I immediately contacted my parents and asked them about it – they had never been told anything about this. So we took the information to my GP, along with some of the research I had been doing, and that was the start of me finally getting some answers.

Rheumatology referral

The first thing my GP did was to refer me to a Rheumatologist at my local hospital. Before my appointment, I did quite a lot of research on EDS UK. I know there is often some question of whether you should research symptoms online and take them to your doctor, but I firmly believe this helped me to have a productive appointment with both my GP and my rheumatologist. There will always be a balance, but I don’t see being informed about your symptoms and (possible) diagnosis as a bad thing. I made a (rather long!) list of all my symptoms and my medical history, and even before I saw my consultant I suddenly felt like everything was starting to make sense.



I saw a fairly young rheumatologist and, for the first time, she seemed to really listen to everything I was saying. She asked a lot of questions about what I was like when I was younger (for example, my hip problems, the fact I’ve always been very flexible, my bladder and bowel issues and the fact I was always injuring myself were important for her to know) and then she examined me in quite a lot of detail. One of the diagnostic criteria is something called a Beighton Score, which assessed your level of hypermobility across the whole body. I believe my score was 9 out of 9, so I couldn’t be more hypermobile if I tried!



However, just because you score highly on the Beighton Score doesn’t automatically mean you have Ehlers-Danlos Syndrome. People can be hypermobile without it being diagnosed as EDS. The diagnosis comes from a whole range of observations and history including a high Beighton Score and then two or more other features from a pretty long list. This list includes things like having soft or velvety skin, a certain type of scarring, prolapses, arm span being longer than your height, positive family history and a whole host of other symptoms. My Rheumatologist ordered a few more blood tests, but gave me the diagnosis of Joint Hypermobility Syndrome. At the point of me being with diagnosed with this, it was still a valid diagnosis. However, I thought I should point out that the diagnostic criteria have now been updated and the names have been changed.

Gastroenterology and Cardiology referral

A diagnosis from a local Rheumatologist can be the end of some people’s journey if their symptoms aren’t too severe or affecting their life too much. However, a lot of people with EDS will have multi-systemic and co-morbid conditions that require further diagnoses and treatment. As my digestive and cardiac symptoms were the most difficult for me at that point, I was referred to local consultants for both of those problems. All of a sudden, having a new diagnosis seemed to get other doctors actually listening to me and taking me seriously. Both doctors ran a few tests, but it soon became evident that I needed more specialist input, and so I was referred to a couple of London specialists. 



London specialists

I don’t want to go into too much detail about every single specialist I was referred to, because we’ll be here all day! But my most important referral (as far as I’m concerned anyway) was to Professor Aziz, a neurogastroenterologist that specialises in digestive problems in people with Ehlers-Danlos Syndrome. I was so nervous about seeing him because up until then, no one had really taken my digestive problems seriously. But he was one of the best doctors I have ever seen. He and his team went through the examinations again, and changed my diagnosis from Joint Hypermobility Syndrome to Ehlers-Danlos Syndrome Hypermobility Type. They also ran some more specialist digestive system tests and after years of no answers, I was finally told that, most likely due to my EDS, I had Gastroparesis and Intestinal Dysmotility. If you’re interested to hear more about the other diagnoses I have received alongside my EDS, please do let me know and I’d be happy to talk about those more.



Royal National Orthopaedic Hospital Stanmore

I thought before I finish this post, I should include a small mention of my time at Stanmore. I was referred here by one of my local consultants, as they specialise in EDS and particularly in managing pain. The referral process was long and difficult due to it being so popular, but I was eventually seen by one of their Rheumatology consultants who spent over an hour with me. We went back over my whole medical history and she redid the Beighton Score, as well as a whole host of other examinations. They were able to confirm my EDS diagnosis and referred me to the three-week pain management programme, which I wrote about last year. They are also able to refer people for things like genetic testing if they believe you may have a different type of EDS. 



I’m really sorry this has been so long! I really hope it might be helpful to anyone that’s starting the diagnostic process, but also hope it will be interesting to those of you that don’t know much about EDS. If you have any questions at all, or would like to see me write about something in the future, please do let me know, as I’m always interested to hear your requests! And if you’d like to share this with anyone I would really appreciate it, as the more awareness we can raise this month (and beyond) the better.

Do you have a diagnosis of EDS or are you trying to get one? Have you found my story helpful? 


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