Adjusting to life with Ehlers Danlos Syndrome, POTS and chronic pain
I am creative, I am chatty, I am 30 and I am living with chronic illness.
Ehlers Danlos Syndrome, POTS and chronic pain for me have lead to hiding myself away trying to prove that I am invincible - It turns out I'm not superwoman!
BRCA2 (one of the breast cancer gene mutations) is now also a feature of my life, and another topic that isn't often talked about, so this blog is about my journey into the good, the bad and the ugly of all the features in my life.
Its time to start talking, and time to start accepting.
More importantly, its time to open up discussions with people so that those of us living with chronic health conditions can feel a little less fearful, and a little more accepted.
Yesterday I had an appointment with the gastro team.
I am no stranger to problems in this area, suffering from dysmotility, GERD, a sliding hiatus hernia and difficulty swallowing. Over recent years this has progressed and I now take anti sickness tablets daily to stop me vomiting, and am finding food is getting stuck much more to the back of my throat when I try to eat or drink.
What I found peculiar about yesterdays appointment was just how matter of fact life changing diagnoses have become for me. I went in smiling, and the doctor was very friendly, we had a bit of a laugh and a joke, but in amongst it all the main message was ‘if its what I think it is, there is nothing we can do for you’. That basically translates too ‘sorry, good luck and goodbye’.
What is my reaction to this you may ask? Was I crying and unbearably distressed by this news? Of course not; I shrugged my shoulders, and carried on making sarcastic jokes. I find it so surreal that a serious diagnosis with such little option for treatment is just one more word added to the pile. I don’t think I even realised what it really meant: that I will likely continue to get worse, and that if I’m already needing a soft food diet (and struggling with that) what in earth happens when I get to the point where I can’t swallow anything at all?
I react this way because EDS gives me little choice. I have so many diagnoses of problems that can’t be fixed. Problems I will live with for the rest of my life in every system of my body. Not once have I reacted as I probably should have done because crying about it seems like a huge huge waste of my very limited energy supply. Each diagnosis leaves me a little more numb to my emotions, and a little more distant to those around me.
I haven’t mentioned these issues to friends or family – I haven’t called anyone to tell them, and I feel like I cant talk about them because these illnesses are so hard to understand. I don’t know that anyone could realise the implications on my everyday life without sadly being in this position them selves. EDS makes you a very lonely person.
I wish that I could react like you may do the first time you get diagnosed with a life changing illness. I wish that I wasn’t so used to hearing ‘theres nothing we can do’.
He told me there are ways to cope, and mentioned fizzy drinks as helpful (something I realised long ago as it forces food down my oesophagus which won’t budge by itself) – finally a medical excuse for my Diet Coke addiction! He even suggested that I should buy a Sodastream to help.
So here I am with a body refusing to work, struggling to eat and swallow without choking; but at least I get a Sodastream.
Part of the reason I have been so quiet lately is that I am so exhausted of the fight that goes hand in hand with trying to source the appropriate care in this country. I have spoken to many others in the same position, and I know for a fact that I am far from the only one to feel like giving up – so here you go, lets talk.
I have suffered from plain old PTSD for over 12 years. I am familiar with the panic attacks, the dissociation and the avoidance. I have made my peace with it for the most part – I know that the dissociation, however impractical, is there to protect me when things get too overwhelming, and for the most part I am now in control of my triggers. Of course I would rather not have it at all, but compared to a few years ago, the effects on my day-to-day life are minimal. I mention this because it’s from direct experience that I can say that those same feelings and reactions are now linked with a new trigger for me – that trigger is medicine.
Something as small as going to the GP now sends me into overdrive. I am so fearful that I will get the same old reactions that are so common for patients with EDS. The doubt, the way you are looked at like some sort of mental case and the arrogance that comes with talking over a patient and simply refusing to listen. When I go to the doctor, I know it is a million times more likely that I will be told that non of these conditions exist, or that they are far too rare for someone like me to have then for a doctor to actually accept that I am ill. They will sit and talk over my head to the other person I have with me rather then make eye contact and discuss things with the 30 year old woman in front of them – and this is far more damaging then I can express. I am made to feel sub-human. I am made to feel stupid, and attention seeking and small. Worse still I am now so disheartened that I spent over a year sitting with new and worsening symptoms without seeking further help.
This systemic neglect cuts deep into the minds of someone with a ‘rare’ or chronic illness. To belittle a patient to the extent that they can no longer seek medical care seems outrageous, but it appears to be a very common occurrence. I know so many others who now avoid medical intervention completely. We simply don’t have the energy to keep fighting any more.
Recently I had to change GP surgery. It took 4 years of neglected referrals and wasted appointments to push me to a point where I had no choice, but what surprised me in this was that my reluctance to change was simple: there was no guarantee any doctor would be any better, and I couldn’t face the idea of going through everything again, getting my hopes up, and then being shot down once more. The more that this happens, the worse it feels. I may have been strong once upon a time, but these days I have no energy left to withstand another onslaught.
Finally after 4 more referrals being refused (all whilst being told they had been done repeatedly) through 3 GPs at that surgery, I made a move. These referrals were important ones. One was for breast screening that should have been made 6 months before my 30th – and seeing as dad has had related cancer twice, and mum is now going though treatment for breast cancer, I really don’t want to ignore the 85% lifetime chance that I carry with the BRCA2 gene mutation I have. Another was for a scan of my spine after one leg went completely numb for 6 months for no apparent reason. I have also had several occasions of short term numbness/paralysis of both legs (thankfully only lasting a couple of hours each time) and to date, although the GPs suggested a scan of my spine, no referral has ever been made. I now have limited feeling in one leg and it is comparably very weak to the leg on my other side. The third referral was to the CMHT after my depression got unmanageable over the summer – the GP openly admitted I had scared her with how low I got this time round, yet although she repeatedly told me that this referral was in the pipeline, again it was never made. Finally, I was told that the horrific vertigo like dizziness I get, and the issues with loss of sensation I get are things that she would not treat unless I was under the care of a neurologist. She suggested a referral to Neurology was needed, and supposedly this had been made back in September. Sadly yet again, this was never made, and worse still I had been strung along for months awaiting for referrals to come through that never would. Each of these referrals were suggested by the GP. I did not push for them, I didn’t ask for them. So why lie about doing them?!
Each and every time issues like this happen, a little more of my resolve dies alongside it. It is almost impossible to keep on pushing when every appointment is at best a waste of time, and at worst a personal attack.
I am exhausted of fighting, of proving, and of undergoing frankly unpleasant medical tests only for the results to be dismissed once conditions are picked up on. I am tired of trying to fight for the care that people with more common conditions get given automatically. I am just so tired.
Flipping back PTSD, it truly surprises me just how many PTSD symptoms are now cropping up whenever I need to make contact with a doctor. My first appointment with the new GP felt horrific. I had been dissociating all day, and the nearer It got to my appointment time the more I started to panic. My heart was racing, my breathing shallowed, I was physically visibly shaking, and by the time I had to go I was terrified. “What if no one believes me? What if he makes me feel like I’m attention seeking? What if, what if, what if.” I found it extremely hard to talk to him, and although I brought a stack of hospital letters with me (as proof I wasn’t making things up), I found it very difficult to know what to say. Although he was surprisingly nice about things, I came away shaking at home for a further 2 hours after that appointment.
So far, he hasn’t been as bad as my last GP, but there is so much trust gone that I am still finding it extremely difficult to build up enough energy/courage to make further appointments. So much has been neglected in the past that I feel terrified that continued appointments will only make him think I am making the whole thing up. I am living with numerous symptoms left unmanaged, pain that is uncontrolled and fatigue worse than its ever been. I have ongoing issues with depression that frankly I have avoided bringing to medical attention due to the persistent idea that its the mental ill health that causes symptoms rather then the reality which is that you get depressed because your symptoms have dismantled your life one ability at a time. Of course you would be depressed if your body is so unpredictable. I have gone from being able to dance for 16 hours a week alongside a full time degree to barely managing 2 hours sat up before I am exhausted in just 5 years. I am wobbly, I am in pain, I am unable to manage basic self care without assistance. Who wouldn’t be depressed?! Yet I can’t discuss this with medical professionals for fear that they automatically then write off all other symptoms as psychosomatic.
It shouldn’t be like this. We shouldn’t be terrified of making a doctors appointment or attending a hospital appointment. We shouldn’t be scared of being honest about how low we feel due to the situation we find ourselves in. Non of this should be happening to any of us. EDS is not a mental illness, but managing the neglect we are faced with often causes either depression, anxiety or PTSD.
For those on the outside looking in, it is a frustrating situation to observe. I know that for those 4 years that I didn’t have the guts to face my fears and move frustrated many around me. I couldn’t explain to people why I couldn’t move surgery, or why I was ignoring symptoms. If you are a friend or loved one of another Zebra, please understand that this is not a sign of someone not helping them selves. Be there for them, talk to them and most importantly listen. Support could make all the difference in weather someone feels strong enough to face another battle – we can’t always do this alone. For any stripy people out there, you are not alone – we may not always be vocal about it, but you are certainly not on your own. Fear is a nasty business, and I hope that one day this situation changes. In the mean time I will be continuing my push for help, and perhaps one day, going to the GP will feel just like it should for anyone.
Last week I had an appointment that has completely thrown me off my balance. Not because it was a bad one, and not because the doctor was bad – it has thrown me off precisely because he is the exact opposite. I have no idea how to react to it.
Since having my upright MRI a year ago, I have come up against the most horrific consultants within my local hospital. I have spent a year being told that my scans show absolutely nothing, that I have no neurological symptoms whatsoever (tho had he of carried out an exam, he would have discovered many) and that I have no idea what I’m talking about. They have been quick to judge me as stupid and gullible, and even quicker to suggest that everything is mental health related. This toxic way of being has leaked out into other areas, and it has gotten to the point where I have repeatedly chosen to avoid appointments rather then put myself through another round of humiliation.
Worse still, without the backing of an NHS doctor to confirm my conditions, I have come up against family and friends who refuse to believe its possible for this type of treatment to take place. I have been constantly questioned about how I know the radiologist or surgeon in Barcelona are legitimate. “How do you know they aren’t just trying to make money from you?”, “How do you know you really have these problems?”, “How do you know you’re really going to get worse?”, and “I can’t believe that there’s no one in the UK doing this surgery, you just don’t know what your talking about” have all been repeatedly thrown at me during conversations like some sort of twisted broken record.
There is nothing worse than having to prove that you are ill when you feel this horrific every day.
However, last week everything changed, and I won’t lie – I have no idea how to respond to it. I have spent so long fighting to be listened to and believed that I never considered how it would feel when that happened.
I had an appointment with a neurosurgeon down at Kings College Hospital last week. Its an appointment I had repeatedly rearranged because I couldn’t cope with another dismissal, but come the 3rd appointment I really couldn’t get out of going any longer. I reluctantly packed an over night bag, and took my PA down to my parents for the night. The feeling of dread I had was worse than it has been for any exam.
We arrived at my appointment, and as I sat in the waiting room of the neurology clinic I really was questioning how I had gotten there. How was I sat in a room full of such obviously ill patients? How was I sitting there and recognising the types of movements, twitches and weakness as things that my body has also started doing? Is that really the way that these neurological issues progress? If so I don’t want to stick around for the ending.
We eventually got called in and to my surprise the consultant was not only happy that I had had an upright MRI, but also agreed with everything on my report. He went through it pointing things out, and after doing a proper neurological exam, he also found that I have hemiparesis on my right side, sensation changes, and balance problems – just as the consultant in Barcelona told me. He also checked my eyes, and the sight in my right eye is significantly worse then my left – as this is on the same side as the weakness in my body, he rang me to ask if I could talk to my GP about having it evaluated by ophthalmology at my local hospital as a ‘base line’ to keep track of future changes.
He took time to explain what the normal procedure would be for someone without EDS – usually this would be treated with surgery that removes a chunk of the skull to allow extra room. He also told me that due to my EDS and instability surgery would be much more complicated. For this reason he is referring me to the skull clinic at Kings, and also for the skull clinic MDT meeting to get ‘as many heads on this as possible’.
I am utterly shocked that all it has taken is a 2 hour train journey for my scans to suddenly show just what I already knew – that this is real. It seems like some sort of sick magic trick – now you see it, now you don’t.
Along with the shock came the initial relief. I hadn’t had to argue, I hadn’t had to prove myself. I was relieved that I was believed, and for a few days those feelings stuck, but with being believed comes the knowledge that I really do have something serious going on. These conditions are not something that I will just get over, nor will they go away without treatment. I will likely continue to worsen over time, and the end result of that is a very scary place indeed. Considering how much worse I am now then just a couple of years ago, its not exactly a slow process.
So now from being believed comes a ton of emotions that I really didn’t bargain for. I spent so long convincing myself that maybe I was wrong, and so much time telling myself it wasn’t really that serious. I have spent a year trying to tell myself it hasn’t existed, so now I am hit with all of the scary emotions I should have been able to have when I found out what my scans showed in the first place. I should have been allowed to be scared, upset and angry a year ago, but instead I had to fight continuously to be believed. I wouldn’t wish this treatment on my worst enemy.
I am happy that its now being counted as an actual medical condition on my records, and happy that I have at least 1 doctor on my side, but the reality is still that they are unlikely to be able to treat me surgically in this country. We still have no one that has done these operations on EDS patients in the UK, so I can’t help feeling like no matter how understanding this consultant is, I am still just as stuck as I have been.
The only way out would be too fundraise to go abroad, but I cannot face the idea of becoming a sob-story or being known only for my illnesses. I can’t face the idea of begging people to help me when there are so many others who are equally needy but who have families or partners that need them to be around. I really don’t know whether to laugh or cry. How on earth did my body so spectacularly go wrong?!
If someone were to ask me about the hardest part of living with EDS, I can answer the question without even thinking. It isn’t, as you may expect, living with joints that pop in an out multiple times a day. It isn’t the fatigue, the constant and unending fight you need just to get through the day. It isn’t even living with chronic pain. Hands down I can truly say that the absolute worst thing about living with EDS is the sheer level of neglect you experience from 99% of the doctors you see.
It is exhausting beyond belief to continually need to advocate just to get basic care, referrals and medication. I thought that things felt bad enough before being diagnosed with Chiari and AAI, but really that was easy in comparison to getting the right help now.
This week I discovered that the 4 referrals my GP was meant to do have not been done. This in itself would be far less frustrating if she were honest and upfront about not doing them, but instead I have spent the last few months trying to find out when the referrals would arrive. Each appointment she looked me straight in the eye and told me they had been done. Finally a couple of days back, I asked my carer to find out from the reception staff where the referrals were up to. It turns out she hasn’t made any of them.
I could understand it if it were for less serious issues – maybe I could get my head around it if it were to a dietician or physio even. Yet one of these was for an MRI of my spine after my leg went numb for 6 weeks (and still has altered sensation and weakness over 2 months on). Another was to see a neurologist after my dizziness and issues with, balance and weakness have gotten worse. Both of these were referrals she told me I needed herself as she isn’t comfortable treating the symptoms without the referrals being made.
Another was for breast screening which I should now be having on a yearly basis. This should have been made way back in September, and it really is the one referral I can fathom a refusal too. Surely if they know the risk of cancer is high, and I have tested positive for the gene mutation, there is absolutely no reason for it to be refused.
I am so frustrated with it all. I really did think that with so many serious issues beginning to happen, that maybe the care would be slightly more forthcoming, but instead it is worse than ever. I spend my appointments being talked down to and treated like some sort of hypochondriac or gullible young girl. The entire thing feels like some sort of sexist power play. It is patronising, dehumanising and quite frankly it is simply wrong. I can’t help feeling that if I was male, 5 years older and had a beard, I would be treated very differently indeed. Maybe then doctors would do what they promise, talk to me directly and be straight up and honest about their opinions.
So what effects does this have on a person? Sadly the effects go far beyond what you may first imagine.
Having had years of my symptoms being ignored or belittled, I have for the most part, given up on seeking medical care. I only go to the GP when something major happens, and not once did it cross my mind to ‘bother’ the doctors in an emergency room after the feeling in my leg disappeared. I didn’t see my GP for 3 days until I was absolutely sure that it wasn’t just something that had just popped out of place or something that would sort out on its own. I refused to go because I was scared. I was petrified of being laughed out of the waiting room, or that someone would try and suggest that it’s all psychosomatic, because most of the time they are exactly the reactions that we get. This continual drip feeding of negativity is unbelievably damaging, and if you don’t struggle with confidence, depression and anxiety before hand, you certainly will by the end of it.
You are left constantly second guessing yourself. I must analyse myself better then any doctor ever could every time I consider asking for help. I spend so much time hearing that my symptoms cant be real, that I have a genuine fear that maybe they are right. Maybe I’m just too lazy to walk without walking aids, maybe I secretly just don’t want to get better. Perhaps my brain trying to escape my head is simply some sick fantasy I’ve dreamt up out of a need for attention. Even though I have symptoms, test results and scans coming out of my ears, I now question myself every single time I need to ask for help.
EDS already leaves you unable to have the life you should be having, but on top of that comes the alienation that seeps out into your personal life as a direct result of lacking supportive medical care. The more I struggled to get treatment or help, the more family failed to believe me when I said that something was wrong. Everyone trusts a doctor will be right, so what hope do you have of convincing those around you that you are genuinely ill when your doctor prefers to chalk everything up to feeling a bit down? I spent years having to fight for care by myself due to incorrect beliefs that it was all ‘in my head’, and this was painfully lonely. I would give anything to be able to be genuine and honest about how I am feeling, but I have now learned it is much safer to keep my medical issues to myself rather then risk dismissal from those that should be some of my biggest support.
With the Chiari and AAI, the effects are amplified exponentially. Your symptoms are rare, unexpected and odd. They are not what a typical doctor comes across. Not only that, but in the UK no one has an interest in fitting the puzzle together for EDS patients. Instead you are left to flounder alone. There is no expert to ask, there is no guarantee that anyone you see will treat you fairly or with dignity.
The panic I now get before appointments is not unlike the panic I experience from PTSD, because I know that if I see the wrong doctor, or see the right doctor but on a bad day, I could potentially land myself with a diagnosis of mental illness rather then any help for the symptoms I so desperately need relief for. I can not explain to you just how exhausting, tiring and frustrating it is to know that there is treatment out there that’s successful in not only halting the progression of symptoms, but very often in reversing a lot of them. It is out there, but unless you are lucky enough to be born in the right country, you need to somehow find an unbelievable amount of cash in order to access it. Not only that, but this country is full of doctors who refuse to even accept that these problems a) really exist for EDS patients (claiming that the term hyper-mobility instead of instability should be used in EDS patients purely because we obviously have superpowers that mean damaging our spinal cord or brainstem isn’t in any way dangerous!). or b) take note of numerous case studies and scientific data coming out from specialist neurosurgeons abroad who have been doing these operations with great success for many years.
It is all so unethical and unjust. It is wrong. I am a capable woman who lives with chronic illness. I am not attention seeking, and I am not making everything up for fun. I am simply asking to be treated like any other patient – with fairness, dignity and respect.
It has been too long since I last wrote, but I guess everything got on top of me more then I would like to admit.
I will go over my trip to Barcelona in another post, but at the moment it is too much to think about, so instead I’m going to talk about the other changes in my life.
As often happens when I get severely depressed (we are talking 6 weeks of crying/sleeping/insomnia/dissociation/suicidal thoughts and isolation which landed me on a second antidepressant and a very concerned GP) I have put some changes in place. I couldn’t live the way I have been living. Life felt aimless. I couldn’t work, wasn’t at university, and I was filling my time with pointless activities which (although creative) couldn’t give me any sense of achievement or purpose. Life became nothing more then watching my body disintegrate and pretending not to notice whilst being petrified behind closed doors. I couldn’t cope with another year like the last 3, especially with my latest health updates.
So three weeks before term was meant to start I bit the bullet and applied to do a part time second undergraduate degree in psychology. I could have done a conversion course as a masters, but realistically I have no way of knowing if I can cope with studying, and lets face it – the longer I can stretch out my education, the less time I will have feeling like I have nothing to aim for.
So far it has been tough. I didn’t realise how much my body had deconditioned – 3 or so years with little activity, sitting on the sofa really has lost me a lot of strength and my fatigue is much worse then it used to be. I am also struggling a lot with pain levels, and thanks to my somewhat wobbly head, I am getting migraines flaring for the few days post uni which is leaving little time to study. Socially it has been terrifying (I am not good at people, let alone groups of them whilst I’m sat in a wheelchair looking so obviously different), but other then the odd issue, so far that has actually been a huge positive. Its the first time I’ve really met new people in years, and thankfully a lot of them are just as quirky and chatty as I am. I am struggling a lot with my PTSD flairing up. Dissociation has become somewhat of a norm again, but the university is supportive, and no one is batting an eyelid at the silly putty coming out in lectures. All in all, as hard as Im finding it, I am also relieved that I can hold my head up high (not literally of course) and say that I am doing something with my life.
Leaving music behind has been surprisingly difficult. I didn’t stop playing because I wanted to. I stopped playing because my joints were causing me too much pain, my fatigue was unmanageable and I was in no fit state to force my body to carry on. I think its the lack of choice that makes it so upsetting. Music up until now has been my life. Since the age of 3 I played almost every day right up until my late 20’s, and without it I am not really sure who I will become. Maybe one day, if my body miraculously gets more manageable I can come back to it, but until then, it seems that life has taken me off on another path.
So – lets talk about life as a disabled student.
Turning up to university is scary – but add that to turning up on wheels, and we are talking some major anxiety. What if people are nasty? What if people think I’m attention seeking? What if nobody talks to you? I had all of these what ifs and more, and fully freaked out for the entire time before I started. On the first couple of days it was awkward. I took my PA along to support me, and yes people didn’t really approach me to start up conversations. I found that I had to initiate conversation, but once I did and people started to get to know me, all of the what ifs have turned out to be false.
Universities are incredibly supportive most of the time. So far I have had excellent support from student services, and a personal tutor who goes above and beyond intruding to get everything sorted and comfortable. All of the tutors I have come into contact with have been brilliant, and no one has made me feel out of place. I know that I will have periods of time where I struggle more, but I feel like the university are prepared to help me with that, and I know that should I need to take extra time or time out from the course, the support is there to do this. This is where university is so different from work. I know that I can pace my learning according to my needs. I can stretch it out, take weeks, months or even a year off and still come back to it when I am well enough to do so. In work I would loose my job long before I got to that point as I am simply not able to be reliable enough. This is a middle ground between being off sick and working. Doing part time study is pushing me to the limits of what I can physically manage, but there is so much flexibility that the only pressure I feel is from me.
Mobility wise I knew that if I wanted to be able to study, something had to give. I had a manual wheelchair from wheelchair services, and my cardiologist was fully encouraging me to use it as part of pacing myself properly. I knew that to get around campus on my feet would have meant I’d have dropped out (or onto the floor) within a week or two of starting, so a wheelchair was the only option. This has been a hard pill to swallow. I have been so determined to resist looking like a disabled person (ironic considering I have gotten used to walking around with a rollater called Dorris). I didn’t want my disability/illness to be the first think people notice about me, but now it is unavoidable. The benefits tho far outweigh the loss of pride, and I know that being able to come in on my dizziest day or a day when my leg is completely numb is worth much more then my somewhat peculiar vanity.
This has been one of the biggest challenges I have done. Reading with a combination of dyslexia, brain fog, dissociation and vision changes certainly make for an interesting afternoon, but I am loving every moment of it. I feel lucky to have been able to give it a go, and relieved that I have a reason to get up in the morning.
Changes are always scary, and especially so for those of us with chronic illnesses, but I am a firm believer that it is worth every moment of fear to be able to try something you had thought was impossible to achieve.
I will update you on the health side of things as soon as I have gotten my head together again!
Finding out about my instability and chiari malformation has been quite an emotional rollercoaster. I feel so many different emotions day to day that I really can’t begin to pinpoint where my head is. I cannot match up my body to the body that has an extremely serious condition, nor can I link my symptoms up to the term ‘brainstem compression’. I know full well that I am gradually getting worse, but my head can’t accept that my condition is so serious.
I have mentioned the headaches that prompted me to get the scan, but what I haven’t mentioned are the numerous other symptoms that I live with which could be caused by these conditions. My balance is bad, and over the last few years it has gotten much worse. I often feel like everything is moving around me, and quite regularly fall over just because I shut my eyes whilst standing up! I am constantly dizzy, but this is compounded by worsening coordination and clumsiness. My swallowing difficulties have deteriorated. What first started as the odd sensation of things going down too slowly has led onto constant slow motility, being unable to clear my throat when I swallow, regular choking due to inhaling bits of my dinner and regularly attempting to swallow only to realise that nothing is happening in my throat at all – this is especially unpleasant with a mouth full of tablets that you can’t get down!!! I vomit far too often, and my nausea now requires anti sickness tablets 3 times a day to try to control it. I regularly get pins and needles in my limbs, and at random points in the rest of my body (most recently I had 3 weeks of pins and needles on my chin and at a point on my back). This can be short lived, but can also go on for weeks at a time. I also experience periods of time when I get numbness and decreased sensation in my limbs and face. Looking back, this started way back in music college, and even during my final recital, I had no feeling in my hands at all! You get so many odd sensations – burning and tingling amongst other things happen almost daily. My breathing is far from perfect – I often wake myself up gasping for air as I feel like I forgot to breath when I was falling asleep. I am breathless most days, even when Im doing nothing more then sitting on the sofa. My memory is much worse then it used to be, and I find myself loosing words and ideas more and more often. My speech feels clumsy, and tho talking has always been my strongest attribute, I am conscious that I am often mispronouncing words and tripping over syllables I would never have had an issue with a few years back.
All in all, there are a lot of symptoms that I manage day to day, and logically I know that this means Chiari and instability are having a far bigger effect then I care to admit. I also know that I am getting worse over time, and it is a little scary to think that this deterioration may not stop.
Following on from my last post, I decided to be proactive in attempting to get views on my scan result. Things that go through the NHS are typically snail paced, and often not particularly helpful for those of us with rarer conditions. There are 2 countries with specialists who will work with EDS patients with these comorbidities: Spain and the USA. With this in mind, I made contact with the consultant in spain (largely due to him being within closer range then the USA).
I sent across my scan results, and filled in about 5 extremely detailed questionnaires. The secretary was brilliant, and explained the process and costs very clearly. Within 3 weeks, I had an email into my account with a very detailed report and suggestions for next steps.
He has identified chiari and Atlanto Axial Instability, but has also stated I meet the criteria for Crania Cervical Instability (Instability between the skull and first vertebrae), and suspects that the instability further down my neck goes right down from skull to C6-7 rather then just instability at C3-4. He said that I Am showing a lot of signs of brain stem compression (based on the questionnaires answered), and would also want to complete further testing to check for tethered chord syndrome. His advice as far as treatment goes would be to fuse from my skull to T1 (my entire neck) and decompression surgery to treat the chiari. He said I will likely continue to deteriorate if left untreated which as much as I don’t want to believe it, seems reasonable based on what he’s picked up on.
The next step from here for me is to head over for a consultation. I could wait and seek other views, but I would rather do the tests he requires and get a more thorough view of what treatment should be for me, and then take all of that information to another specialist to look at. At least it would give me a real starting point rather then things being based on guess work.
So, on the 19th of this month, I am booked in for cineradiology, urodynamic testing and a consultation. He also wants to see a thoracolumber MRI, but as I *should* be able to get this done on the NHS, I will hold off paying for one privately for now. As much as I am nervous about all of the above, it will be good to be able to actually talk to a specialist face to face about what my body is doing, and which options are available to me. I should be able to get an idea of how quickly I may deteriorate, and also be able to discuss through when the right time to think about surgery is. I have no idea if I will be ok to hold off for a few years, or if this would need to be done as soon as I could.
The scary thing in this situation (other then my body’s rather spectacular inability to fulfil its purpose in life) is the prospect of paying for such a complex procedure. Although I won’t have a full idea of cost until seeing him (and until all tests are complete), I know that people seem to be needing to cover anywhere from £60,000 upward. This figure, bearing in mind I am subsisting on disability and sickness benefits , is so outside of my comprehension that I can’t even begin to get my head around it. Obviously I don’t have it hanging around in my bank account, and I don’t have any rich friends who could offer to cover it for christmas, so it looks like I will have to do the one thing I NEVER wanted to do: fundraise.
My head despises the idea that I will need to show the world an ill person. I don’t do sob stories, and I especially don’t like people feeling sorry for me. This blog took so much for me to start writing, and I do it with the view that more information needs to be out there for doctors, friends and families to read. I don’t cover up the embarrassing bits, and I’m not hiding the darker thoughts, but this is with the hope that at least one doctor may be able to read this and get a better understanding of the next stripy patient who walks through his door. The idea of begging people to help me raise money to pay for my own surgery makes me extremely uncomfortable… I may be short and sarcastic, but I certainly don’t feel amazing enough to expect that sort of cash from people I don’t know! If only there was a rich fairy godmother just waiting to make her entrance into the worlds most boring fairytale right about now!
For now tho, I am trying to ignore the implications of the meeting with the consultant, and just focus on finding the energy to get there in the first place. Its been a mighty long time since I’ve really even left my house for anything over a few hours, let alone travelled on a plane to a foreign country, and be up and ready for tests to start at 8.45 the very next day (help)! On the recommendations of many that have been there before me, I have booked in to a place set up to cater specifically to the needs of the not so able (or special as I like to think of myself). Everything in the apartments will be accessible, there will be rails and a shower chair in the bathroom, the beds are electrical (which thankfully means I don’t need to panic at having enough pillows for my nightly game of pillow jenga), and there is a hydrotherapy pool available for use which will massively help with pain. Best of all, they will provide me with a free power chair for the duration of my stay which means I will be able to go out and be a tourist without needing to crawl everywhere on my hands and knees – I’d say thats a win! I have booked in a couple of extra nights so that I can cope with the travel, and also make the trip more then just a hospital visit. You have to make the most of it somehow or other!
No doubt I will report back at some time in the near future with yet more stripy ramblings. Maybe I’ll even treat you to a picture or two from Barcelona if your lucky!
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.