This particular post is one that I had hoped I would never need to write. EDS up till now has been frustrating, painful, intrusive and unpredictable, but now it is darn right scary.
As EDS leads us to produce faulty collagen, its effects can become apparent anywhere that collagen is involved. Joints, skin and organs are all affected, with further effects often reaching to hormonal systems, the autonomic nervous system and pretty much anywhere else you can think of. For many people with EDS these effects will be difficult to live with, tho it tends to be something you can adapt around – usually it is life altering, but not life threatening.
However for a relatively small percentage of us things can get a little more precarious when the brain, neck and/or spine decide to join in the party.
This particular tale for me started in mid January (barely 3 weeks after my thyroid operation). I have been experiencing headaches pretty much since I can remember. I grew up with daily tension headaches (not helped by a jaw that loves to snap, crackle and pop), and from the age of 12 I have experienced ongoing neck and back pain. Having been brought up to resemble a musical robot, I had always attributed this issues to spending hours a day in front of a music stand rather then anything linked to EDS.
Over the years my headaches have changed. I developed migraines, headaches when I cough, laugh or strain, and usually feel like my head feels too heavy for me to hold up by the time Ive been up for more then half an hour or so. My neck over recent years has also started to feel noticeably more unstable – along with the usual subluxes I am accustomed too, I do get the occasional clunk that leads to extreme burning pain radiating up and down my head and back which lasts for days at a time. In general the change has been so gradual that I rarely stop to think about it. I am used to the headaches not going away and the need to rest my head. I’m used to fending off migraines on a weekly basis, and the pulsating pain felt when I cough, bend over or laugh. All in all, I have always just assumed its nothing more then an annoying symptom of EDS rather then anything to be hugely concerned about.
Having mentioned these issues in passing (largely focused on the migraines which are extremely disruptive), my GP decided to refer me to a Neurologist for a formal diagnosis. This finally came through for January, and as I wasn’t feeling particularly worried about anything, I attended the appointment alone. As expected, he diagnosed me with migraines (no surprises there, tho its taken years for any GP to acknowledge them), and when talking about the headaches relating to straining he very cheerfully dropped into the conversation “Oh, and you probably have Chiari Malformation which is where your brain is herniating into your spinal column – its really common in EDS, but just forget you have have it!”
Now Im pretty sure you have all heard the example ‘Don’t think of the pink elephant’. If you don’t want me to be thinking of the pink elephant, then maybe don’t tell me not to be thinking about the elephant – or better still maybe suspect that the words brain, herniating and spinal column may come across as just a little bit terrifying.
This is not the first time I have heard of Chiari Malformation in EDS. A couple of years back, a very dear friend of mine ended up extremely unwell with Chiari and Cranial Cervical Instability that led her to need to fundraise an insane amount of money to cover the costs of the surgery that saved her life (no surgeons in the UK will treat these issues in EDS patients). Granted, she was on the extreme end of the scale – but she had also been told my both neurosurgeons and neurologists here in the UK to “just ignore it” and forget about it – so this line of thinking did not sit overly well with me.
In reality (although the NHS will argue there is no difference) many cases of Chiari Malformation and instability are missed when taken in a recumbent MRI. It seems logical to me that gravity plays a part – especially when you take super stretchy collagen into account. Many EDS patients have been fobbed off with a normal looking MRI only to finally get an upright MRI which suddenly shows up a whole host of fairly serious issues. As the neurologist wouldn’t even refer me for an MRI of my spine (brain and spine MRI requested by a consultant at the RNOH) I am pretty sure an upright scan would not have been on the table without an extremely long battle. So I walked away from the appointment knowing full well that the MRI I was being given was close to useless, and feeling utterly lost.
I feel so very lucky that I had my friend to call that day as I genuinely don’t know how I would have coped with that news with nobody else to ask. She allowed me to have a freak out, and then helped me get together a plan that seems much more proactive then just pretending its not there. On her advice, I booked in privately to Medserena in London for an incredibly thorough upright MRI. I was hoping that the MRI would prove that I didn’t have any problems – tho on some level I knew that this was unlikely.
The scan itself was tolerable – especially as the private sector seems to arrange for pots of tea and snacks to be brought to you before and after your scan! They were great at explaining exactly what each part of the scan was for, and they did their best to put me at ease and keep me comfortable. The scan lasted for almost 2 hours, and within this time we took scans with my head in a neutral position, in flexion, extension and turning left and right. As its extremely challenging staying still (even tho each part is broken up into 2-6 minute sections) they use props and clamps to try to keep you as still as possible. It wasn’t a comfortable experience, but it could have been a lot worse. I returned home that evening with a pretty horrific migraine, and unfortunately the scan does seem to have given me a flare up in migraines and headaches. I don’t work well with my head being manipulated, nor with staying at the extreme ends of motion for any length of time. So far Im on migraine 3 in 5 days, but I trust it will settle again soon.
The report came through the day after my scan, which is just as well as I was climbing the walls with nerves. On the one hand, a diagnosis like this is terrifying, yet on the other it would give an explanation (and the potential for treatment) for so many symptoms that I experience. Just like so many parts of EDS, each new diagnosis is a double sided coin.
Reading through the report I felt like my world was falling apart. It shows not just a 10mm chiari malformation (herniation of the cerebella tonsils), but Atlanto Axial Instability and C3-4 pushing out of place and into my spinal column every time I bend my head forward. AAI is instability in your top 2 vertebrae, and mine showed that both facets sublux when I turn my head in one direction, and one side fully dislocates when I turn my head in the other. To top it all of my degree of hyper mobility in my cervical spine is also pretty darn impressive, but this in combination with the above leads to ‘significant instability’ – words that you don’t really want written about one of your most important supporting structures in your body!
It is hard to wrap my head around the information I have been given (pun intended), but more so because there are no specialists in the UK that I can go to for advice. Although both chiari and AAI are regularly treated in those without EDS (with the acknowledgement that these conditions cause symptoms for the groups that are being treated), there is a distinct lack of understanding, acknowledgement and knowledge when it comes to treating (or even consulting with) EDS patients. Just like the advice I was given, most people are told to forget about it, that it wouldn’t possibly cause any of their symptoms and that there is no evidence that treatment would be beneficial – ignoring the research carried out by world experts, and contradicting their reasoning for operating on non EDS patients. In reality, it is likely a lack of funding. The surgical technics required for treating EDS patients with these conditions differ from the norm, and so the NHS would need to plough a fair amount of money into new training. For such a small proportion of patients, there is little incentive to back the idea, and so it is far easier to claim ignorance then acknowledge a lack of funding and knowledge.
Unfortunately this leaves me with few options for advice or treatment. Those that deal with EDS patients are based in either Barcelona or the US, and although I could fight to see different people in the NHS, the results would almost certainly be the same. I want advice on how to manage these conditions – advice on activities that should be avoided, or ways to help myself. I also want to know exactly how serious my scan results are, and whether surgery will be needed in the future in order to maintain some quality of life. The last thing I want to do is ignore its presence, and risk deteriorating to the point of paralysis or even death. Not every patient will deteriorate to such extremes, but its a possibility, and its a possibility that I would rather try to avoid. With all of this in mind, and through an amazing bunch of fellow sufferers, I have begun to make contact with some surgeons abroad. I am beginning the process of sending in my scan pictures for them to look out, and will hopefully be able to get some views from people who know what they’re looking at. If they say that surgery won’t be necessary, then I’ll be jumping from the roof tops, but if it is necessary, then I need to know sooner rather then later as I would need to find a way to self fund. At the very least, it will give me a chance to ask questions about how I can best look after myself from here on in, and what I need to keep an eye on symptom wise.
All in all things are looking pretty scary at the moment, and normal life seems to be slipping further and further away. I really did think that once I had attended the rehab course at Stanmore I’d be able to get well enough to study through hard work and determination, but now I’m not so sure. No matter how much physio and pacing I put in, I won’t be able to fix my brain or my neck. There will be no guarantee that things will stay as they are, and so how can I be sure that I would get through the year without things going disastrously wrong? Thats without taking into account the fact that I have far to many symptoms at my current level to even consider it as it is.
Each time I convince myself that theres a way to sort things out, the unpredictable and frankly horrific nature of EDS rears its ugly head to set me strait again.