Rare Disease Day 2016

Today is Rare Disease Day! If you didn’t already know, I live with three main medical conditions, Ehlers-Danlos Syndrome-hypermobility type, postural orthostatic tachycardia syndrome & basilar type migraine, each of which is considered rare. I also have a number of other conditions as a result of these three main ones. The theme for Rare Disease Day 2016 is patient voice, so today I’m going to be sharing with you all why my voice & those of other rare disease fighters are so important in improving our lives & the lives of our families, as well as others with the same conditions.

So what constitutes a rare disease? In Europe, a disease or medical condition (I personally hate the term ‘disease’ as it makes me sound like I have something highly contagious!) is considered rare if it affects fewer than 1 in every 2,000 people. 80% of rare diseases have been attributed to genetic factors, EDS included. With the majority of rare diseases, symptoms vary from sufferer to sufferer, which can often lead to misdiagnosis & mistreatment. Check out rarediseaseday.org for more information about rare diseased & who they affect.

To highlight the importance of parent voice & the need for professionals to listen to the patient, I thought I would share the terrible time I have had with the physio department at my local hospital & the permanent damage I have sustained as a result of of poor treatment & a lack of understanding of my condition, as well as the physio’s not listening to me!

I can’t remember how I came to be seen by the local physio for my shoulder. It could have been through hand therapy, but I’m not sure. I’d been seen by the rheumatologist at the same hospital (can you see a pattern?), who had told me I have ‘chronic widespread multiple skeletal pain with aspects of fibromyalgia caused by childhood hypermobility’. I was given a leaflet on ‘joint hypermobility’, & one on fibromyalgia, told I don’t have either but that the leaflets might be helpful & sent on my way. I still have no idea what ‘chronic widespread multiple skeletal pain’ is, it sounds more like a description to me!

I was initially assessed by the physio & then seen by a student. This should have rung alarm bells straight away, but I’ve always been someone to give people the benefit of the doubt. After all, she could have been great! Unfortunately, she wasn’t. She tried a manipulation on my back, which put me in agony for three days. I was barely able to move. I thought it might just be extra pain before the improvement, but my GP assured me I shouldn’t be experiencing pain to that level. She also did some work on my right shoulder. Unfortunately, because I’m extra bendy, she manipulated it too far, because it moves so easily. That left me with permanent damage & a weakness in my shoulder. I’ve damaged my shoulder further, but can’t help feel that it wouldn’t have damaged as easily or as badly had the initial damage not been there. After the damage had been done, I was reviewed by a senior physio & sent to see someone else. In all fairness to her, she (& the hand therapist) were brilliant. Together they did the beighton score & agreed that I likely have one of the hypermobility syndromes. You would thought with that on my notes from two professionals at the hospital I wouldn’t have any more problems with physio. How wrong you would be!

I was seen by physio again pre & post knee op. I had to have key hole surgery on my left knee to put my kneecap back in place. Pre knee op was fine. I did the exercises I was given & they didn’t cause a problem.  Well, most of the exercises. One involved me bending my knee backwards, which I knew wasn’t good for me with my particularly flexible body. My GP was in agreement, so I left that exercise out. Post-op was a different story though. At this time I was being re-investigated for one of the hypermobility syndromes at a different hospital. I made sure to tell the physio I was seeing this to try to avoid injury. The first gym session I had with the physio, I was very vocal about how each of the exercises was affecting me, both with words & by pointing to the area affected. Despite this, I was pushed too hard. At the end of the session, I was told by the physio that I was doing really well & that I just needed tops myself. That night I was standing at the bottom of the stairs talking to Dan when my hip gave way. It was lucky it happened where it did, as I was able to grab the bannister & avoid hitting the floor, which would likely have caused more damage. I later found out that I had experienced a hip sublaxation, which is a partial dislocation where the joint comes some of the way out of the socket & usually slips back into place.

As a result of my knee op, my GP had been signing me off work for 2 weeks at a time. Unfortunately, she went on holiday when I needed another sick note. The GP I had seen didn’t see why I couldn’t go back to work. As a result, I was pushed back into a job on my feet way too soon. I experienced a second hip sublaxation on my first day back on the shop floor & ended up in A&E. As a result of these two subluxations, walking was difficult & painful. I didn’t realise until my Mum pointed it out, but I was walking with my leg out turned. My hip has never been the same since.

In both of these instances had my concerns been listened to, I may not have ended up with permanent damage & further injuries. Because of the lack of understanding of my EDS & the damage that has been cause by the local hospital physios, I have refused to be seen by them subsequently. This decision is backed up by two of my consultants who have an understanding of the hypermobility syndromes. Unfortunately, this makes accessing the help I need difficult. I was referred by my GP to physio therapy at the next most local hospital with a senior rheumatology physio with expertise in EDS at the beginning of November. I was seen by this physio following my EDS diagnosis & you can read more about my (positive) experience in my Physical supports made it possible… post. This has been supported by my two consultants. Nearly five months later & I’m still waiting for an appointment. So far the GP has had the referral rejected twice because I am technically ‘out of area’, even though the hospital is in & supports the population of Warwickshire, which is where I live. But, the alternative of not having treatment is to have treatment at a place that have on more than one occasion permanently injured me. To me it’s a no brainer, I’m better off without.

Do you have a rare disease or medical condition? Your voice is important, don’t forget to use it.

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