Wednesday, 19 February 2020

How I Got Diagnosed with Ehlers Danlos Syndrome



Like many with EDS, I didn't have a particularly easy journey to getting a diagnosis. EDS is a rare inherited disorder that affects connective tissue in the body, caused by different genetic defects in collagen. There are different subtypes of the condition but the most common and the one I personally have is Hypermobile EDS or hEDS. People with this type typically experience some of the following symptoms, 




I have experiences most of the issues listed above all of my life to a greater or lesser extent, as the disease is progressive they have steadily gotten worse as I have gotten older. However, due to a number of reasons my diagnosis did not come until only a few years ago.

I started showing symptoms that something was going on when I was a very young child and learning to walk. I had some minor issues that continued as I grew such as a slightly odd gait, constantly falling over and generally not being able to keep up physically with my peers. So I spent a number of years from ages 5-10 occasionally seeing consultants, who referred me to physiotherapists, who referred me to Orthotics for leg braces and splints. I think it was assumed that I would grow out of these issues as I got older and neither me not my family being the sort to make a fuss it was not a process that we pushed too much.

When I was about 11 after years of ducking and diving between different departments and consultants and a worsening of symptoms, as well as increased fatigue, I was sent to a neurologist and diagnosed with a different condition Charcot Marie Tooth disease. CMT is a disease that affects the nerves, ultimately causing muscle weakness and wastage. (More info here if you are curious) This felt like real progress. Even at a young age I was very aware that some people thought I was faking, or attention seeking or just generally did not take my concerns very seriously, especially a lot of doctors I saw.

However, it just didn't really fit with a lot of my symptoms. Some it explained perfectly, such as why my achilles tendon was so weak, an early sign of the disease, but many others were pretty anomalous. CMT is usually diagnosed in adults in middle age and for some one so young the symptoms should be very mild. For instance CMT also causes stiffness and rigidity in some joints, whereas I was the complete opposite, forever twisting my ankle or having my knees buckle and bend backwards. But the diagnosis is conclusive and easily proven via genetic testing and nerve conduction tests. So that was that. I had some minimal support such as adapted orthotics etc but as the disease is incurable it was all about management and getting on with it.

When I was around 13 my health, both physically and mentally took a pretty sharp nosedive. I had always experiences gastrointestinal issues but they quickly increased in intensity. My fatigue got much worse and I started vomiting uncontrollably. At first I assumed I had a virus but after a few weeks of throwing up everything I ate it became apparent something else was wrong. During this period of time my homelife was in an incredibly chaotic state and I had a lot of deeply stressful family issues going on. I had also had some anxiety issues all my life so it was assumed by consultants that this was simply stress, my fight or flight instinct was causing this and the problem was entirely phycological. This seemed pretty logical to me and my family so we didn't question this at all. But then it continued and continued. Months went by without it showing any signs of stopping. It was affecting me badly at school and making me quite weak in general. It also wasn't like normal sickness. It didn't hurt to be sick, I wouldn't gag or wretch at all it was just like swallowing in reverse.

After sometimes when we realised that this wasn't going to stop we went back to the sadly familiar rigmarole of being passed from doctor to doctor, department to department, hospital to hospital. After some minor investigations and medications when nothing was apparent, I was told yet again it was just psychological. This went on years. Over the years I learned to control the sickness a little better and just didn't eat for extended periods in order to manage it as best I could. But it never went away and no doctors ever really showed much concern that this was happening for such a long time. So, I learned to live with it. (Obviously that is a massive simplification, it led to a pretty bad eating disorder but that's another story)


Throughout my teens and early I kind of just managed all of these things, with the addition of increased joint pain, random injuries to my joints that happened with minimal impact, increasing gastrointestinal issues etc. I would sometimes see consultants that would indicate my issues were not consistent with CMT but no one would ever take action on these things. I had a diagnosis of CMT and that was that, really. But more and more it didn't make sense. A young person with CMT shouldn't be exhibiting these symptoms. The first person to really indicate to me that they believed something else was happening was a physiotherapist who specialised in Neuro-rehab. She pointed out the issues such as my joints being far to flexible in ways not consistent with CMT and started using terms such as hypermobility to me a lot.

I had already known of a few people with EDS and it was something that had come up during google searches of my symptoms, so when hyper-mobility came up it wasn't that surprising. My physio however was never exactly explicit. She seemed to be dropping pretty big hints about what she thought might be the issue without actually saying it. I felt like she was only a small step away from winking and nudging me, telling me to google it and look into it but was clearly didn't think it her place to say. When I would say I've brought these issues up to consultants before and been met with nothing more than a a shrug, she would look exasperated but never directly question them. This is something that was a big issue for me in getting diagnosed. No one would ever question anyone else directly. Sometimes, like this instance, physiotherapists, nurses, orthotics specialists, occupational therapists, would all seem dubious, but never willing to question consultants. Time and time again, I felt like there was something they wanted to say but never would and I could take guesses. I had guessed people were talking about EDS in the past, I was very aware of the condition but that didn't do me much good if the consultants were resistant.

So, you might be asking how did you actually get diagnosed. Well, a few years ago I started going to the National Hospital for Neurology and Neuroscience to be part of a study for my other condition, CMT. Being part of the study would really mean for me that I would be examined and tracked by some of the best experts in the world in that condition. My CMT isn't particularly severe although it does cause me many issues but the treatment under the NHNN is far superior to anywhere else, and helped a lot with things like orthotics etc and managing the condition. When my consultant started looking perplexed as to certain symptoms I had and the way my body moved, stating this was not at all consistent with CMT (and she would bloody know) she wrote to my GP to ask for him to refer me back to rheumatologists. Obviously this process takes months, sometimes it has taken over a year in the past but knowing that an expert finally took me seriously and took the time to examine me carefully and acknowledge these issues gave me to confidence to say 'Fuck it, I'm over this being polite shit' and push.

I love the NHS and we need to protect it at all costs but it was failing me big time. I really didn't have the money to but I went and saw a private rheumatologist. My thinking being that someone out of the NHS might not be bound my some weird concept of 'no one can question anyone else's diagnosis' and actually look at the facts. And they did. The doctor examined me, using the beighton score, did a medical history and looked at all my symptoms as a whole, joint, gastro etc. Within that first appointment he said that without a doubt I have this, I scored 9/9 on the hypermobility test and all of my other symptoms considered I very obviously have EDS. He didn't understand how this could have been missed for so long.

I only had one appointment with this doctor (couldn't afford any more) but was then referred to another NHS rheumatologist who concurred with his diagnosis. From there I was then referred to the Royal National Orthopaedic Hospital (which is fantastic and if you have EDS and can get there, get there) to see specialists in EDS and they too agreed with the diagnosis. My consultant there actually chuckled when she examined me saying how apparent it was, she could tell immediately. She recommended me for a three week inpatient rehabilitation course which I should be attending at some point this year to try to help manage symptoms.

In its own way it's a happy ending. The sadness and humiliation I felt all those years being ignored or essentially told I was exaggerating hasn't ever gone away. I don't think it ever will really. I grew up with it and it has shaped me in ways I don't even fully know about. There is a sense of vindication in it, but still a lot of anger and sadness. If I had been taken a little more seriously early on, I could have managed or prevented symptoms from worsening and that is incredibly frustrating but in all honesty it pales in comparison to what it has done to me mentally.

To everyone out there that is or has been in a similar situation, because I know sadly there are plenty of you... fuck politeness. For years I held doctors in such high esteem, they know best, what do I know? I didn't want to push out of fear I would be seen as not only a hypochondriac but also as a pain in the arse. But they are only human. They make mistakes. There are so many amazing doctors out there that give there lives to helping people and some are just not on it, like any other sector of the populace.

Trust yourself. Advocate for yourself. You are not being a pain, you are IN pain. It is reasonable to expect reasonable help, respect and care.





Sources used:

https://www.nhs.uk/conditions/ehlers-danlos-syndromes/
https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
https://www.nhs.uk/conditions/charcot-marie-tooth-disease/causes/
https://www.ehlers-danlos.com/assessing-joint-hypermobility/


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