Another Spanner in the Works

IMG_0258Just when I thought that everything was finally starting to fall into place, my body has yet again decided to do what it does best – and royally screw up, just in time to get in the way again! I am seriously starting to think that I was created as one big walking disaster area – just for the comedic value of whoever decided to create me. So what is it this time, I hear you ask – well, sit tight, here is the story of why yet another condition has gotten in the way of Stanmore!

As some of you will know, my thyroid has been a little special since my little love affair with high dose steroids (seemingly this was just another unlucky coincidence).  Although my symptoms seem to have played opposites to the diagnosis that fluctuates between subclinical and clinical hyperthyroidism. Rather then the weight loss, heat intolerance and issues with having too much energy, I am colder then ever, exhausted beyond belied and my weight has ballooned into something resembling a small hippopotamus. Just my luck following weight gain from steroids!

After over a year spent asking my useless GP to do more then blood tests, I was finally referred to a specialist by the amazing GP who has been covering her maternity leave. She also referred me for an ultrasound to look at my thyroid.

The specialist found a nodule after checking my neck (something that should have been done when my blood tests first came back abnormal), and the ultrasound confirmed a single nodule. The theory was that this was the thing causing my thyroid to be overproducing – however, my body is never that simple.

So, she ordered a radioactive thyroid scan. Due to the thyroid being the only part of you that takes in iodine, this is rather a nifty idea. I ate a low iodine diet in the week before, and duly turned up to the imaging department with no idea what to expect. Sat with a magazine for a short while before a nurse all garbed up with gloves and apron shouted ‘Next victim please’! He was fab! Out popped a metal box which encased the radioactive iodine, and this was injected into my arm – a little stingy, but not horrific. I waited around for a half hour or so, and then was led into the room for my scan. It took about 40 minutes in total, lying with my knees bent and head back. I did have to get some help from the nurse to get up again as my back had seized up – I felt like a 90 year old! Considering I spent 40 minutes having a lie down, I was surprisingly tired, and it took me a heck of a long time to get over. There aren’t often reactions to this test, but it turns out I was starting up a flare up of suspected Mast Cell Activation Syndrome – I spent the next 6 weeks literally not being able to stay awake, eyes running and so dizzy I couldn’t stand up, all of which started to dissipate as soon as I started taking antihistamines on the off chance they would help when the doctor drew a blank!

The scan was expected to show a hot nodule. This would mean that as the nodule would be overproducing, it would be absorbing more iodine then the rest of the thyroid. With my body being my body however, it actually showed up as a cold one!

So, after a month of not knowing the result, I was surprised to find a letter in the post for a second ultrasound. On calling up to question why I would need another so soon, it turns out this one would be with a fine needle aspiration.

Again, I rocked up at the imaging department (I was feeling like I perhaps aught to bring a pot plant and move in by this stage), and waited nervously for someone to stick a needle into my neck. Once in the room, I was introduced to the doctor, and had an ultrasound so that they could find the nodule. He then started getting out the equipment, and just before injecting the local anaesthetic (by far the worst bit) asked me to try not to punch him mid procedure! Anaesthetic in, they again used the ultrasound to pinpoint the right place, and then used a needle to scrape some of the cells, and then repeated this again for a second time in a slightly different position. After the excitement I was free to leave – I had a dressing over my neck, and due to being allergic to plasters, I got a different sort and was promised it looked much cooler then the others. He even suggested a few amusing stories I could give people to explain my new look – I do love doctors who are up for a laugh! My throat was sore, and my swallowing was painful for a couple of days, but nothing too major.

The results from this were most likely to be fine, and I was told it was a precautionary measure rather then anything to worry about. Unfortunately, it turns out that this was not altogether accurate. I ended up with a few critic clues in the post, from a not altogether helpful NHS. The first was that my results ‘need further discussion and have been referred on for this’. That is all I got! It is hard not to worry with that sort of letter, but I still tried not to think much of it.

The next letter took over 6 weeks to come through. With so much time in-between, I figured there would be nothing to report, but I was not so lucky. The next cryptic clue I received stated that my ‘results have been discussed, and and a surgeon will be in touch’! Just my luck. So, after an awful lot of detective work, discussion with my GP and phone calls I was told that I had a nodule classified as U3 THY3f. After more phone calls trying to get hold of my consultant, she explained that this mean that my nodule had cells that were ‘in a grey zone’, meaning that there are suspicious cells present, but they can’t be diagnosed as either benign or cancerous without further exploration. As another biopsy would show the same result, this means the need for a partial thyroidectomy.

Saturday just gone, I had an appointment with an ENT surgeon. He was lovely. After trying to remember my long list of diagnoses and medication, I was petrified that he would think I was prone to making up my illnesses, but thankfully this was not the case. He spoke about the surgery – it should take about 2 hours, and may or may not have a drain depending on the size of the cavity and bleeding once the half of a thyroid has been removed. I will also need to be in hospital for at least one night, possibly longer depending on if my body is behaving itself. He then had a feel of my neck, and then used a camera to look down my nose into my throat – not the most pleasant procedure I’ve had.

Surgery is booked in for the 18th of December, just in time for christmas. I am struggling slightly with this for a number of reasons. Mostly I just feel that my body has let me down yet again. I have finally gotten to Stanmore, and my admission was supposed to be at the beginning of the year, butagain something else has screwed up. I feel like its a dream I just can’t get to. Stanmore could mean that I can actually start getting better, but how can this happen when I can never get to it? Every time I start finding a way to get better, my body keeps pulling me back under – and this isn’t even an EDS thing. So far on top of EDS, POTS and all of the other conditions they bring with them, I have had optic neuritis which royally screwed me over, the BRCA2 gene and now this. How many more things will go wrong?

I am reaching my limit with what I can cope with in this body, and feeling truly trapped. I desperately want my life back. I want to feel well, to work and to leave the house more then once in a blue moon. I want a life without pain, without the constant worry of whether something else is going to go wrong that I have absolutely no control over. I want to be normal, but I can’t do anything about it. Living in this body is torture.

 

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Stanmore (RNOH) (first appointment and pre-assessment)

Its been a while since I last posted, apologies! So much has gone on over the last few weeks that I haven’t really known where to start. My mental health took a bit of a bashing with my PTSD flaring up, tho thankfully its settling down again now, and sadly dad has cancer again, so theres rather a lot on my mind. Although things have been difficult, there is also rather a big positive happening at the moment – I have finally been able to get seen by a member of the team at Stanmore!!

Its taken a few years of frustrating battling, but finally with a good GP behind me, my first appointment letter arrived. I was partly jumping around with excitement, and partly absolutely terrified. In order to get a referral to Stanmore, you first need to go through a rheumatologist. With EDS this can pose an insanely large challenge, and just as always, I was not to be disappointed. Due to the rheumatologists under my local hospital point blank refusing to believe EDS could even be helped and refusing to see me, let alone refer me to Stanmore, I had to travel down to Orpington to see someone. The person I saw was beyond useless. He insisted I didn’t have EDS, but simply had fibromyalgia. He insisted I only scored 1 on the Beighton scale (far bellow the 5-9 I have been scored in the past) – ignoring my obviously hypermobile elbows, and stating that even tho my thumb could touch my forearm, they weren’t bent backward and therefore didn’t count! When I questioned him about what my internal issues were caused by, he simply tried to brush it off with ‘I don’t know, but not EDS’!! I came out of that appointment absolutely fuming. On my insistence, and the insistence of my cardiologist, he did however agree to refer me onto Stanmore – so I suppose I should count my blessings.

Having been essentially written off by the last person I had seen, it is no surprise that I was feeling pretty nervous about going to one of the UK’s only specialist centres for EDS. I was fully expecting the same reaction, so had been getting steadily more anxious the closer my appointment got. What if he was right and I didn’t have EDS at all? What if they thought I was lying? What if they couldn’t help me?

Thankfully I had nothing to worry about. After the nurses taking my heart rate and blood pressure (and my POTS confusing them as my blood pressure went down upon standing), I was led into a room with a consultant. She took a very detailed history from early life to present, and then proceeded to question me about the referral. She asked why the letter had stated ‘I would appreciate your help with this EDS classification matter’ and was pretty astounded when I explained that the rheumatologist had only scored me a 1 – especially when I held up my elbows and told her he said that they weren’t hypermobile! She told me she would ‘copy him into the letter’ to teach him about EDS! After this, she gave me a thorough examination. Apparently I score a 7 on the beighton scale after all alongside my shoulders and hips being very hypermobile, and she also checked a number of other things. My skin is more stretchy then normal (which I wasn’t aware of), and I have an overcrowded moth with a high arch palette – typical of EDS. She also checked underneath my tongue, and told me that I have no frenulum – I had no idea that this was another sign of EDS – you learn a new thing every day! After all of this, we sat down to have a chat. She has asked for me to have a brain and spine MRI to double check everything as I suffer from certain headaches, so I have been referred to a neurologist for this. We also discussed what Stanmore could offer me. Although they do offer outpatient support, we agreed that as I live so far away, the 3 week rehab programme would be more appropriate, and so she referred me on for this. When I asked about timescale, she said that I would likely go for rehab within 3-4 months. I was sceptical about this, so hadn’t gotten my hopes up – it seems I may be wrong!

A few days after my appointment I received a questionnaire in the post. This was largely about they places I experience pain, and daily functioning. I sent this back, and a week or so after this, I received a letter inviting me to a 2 hour preassesment session held at the rehab centre. Feeling nervous and excited, I travelled down on Friday morning to attend.

When I arrived, I was invited into a room with a fellow 10 or so patients for a presentation. This consisted of a video followed my a question and answer session. Everybody was friendly, and a good proportion of the others turned out to have EDS or Marfan syndrome.

The program is run in 2 settings. Both contain the same materials, but one is run in a hotel, and the other in a hospital setting. The idea of the hotel program is that it replicates the experiences of normal daily live as much as possible, so you have responsibility for all medication, personal and medical care yourself. The hospital program is for those who fall into a higher risk category, and there are nursing staff available for help with personal care, and perhaps a higher level of support if needed. The decision as to which program is most suitable for you falls down to the medical staff, and although they discussed this with me, I didn’t have a choice in the decision.

After this, we were asked to wait, and were called to have an individual assessment with a member of the team. I was called by an absolutely lovely pain psychologist. We sat down, and went slowly through the questionnaires I had filled out before attending. She was extremely detailed with both my physical and mental health history and present symptoms, and not once did I feel uncomfortable or embarrassed. We spoke about how the program is run, and throughout this process she talked about both the hospital and hotel program. She also completed a couple of risk assessment forms covering things like risk of falling, personal care needs and safety with medication/mental state. As the assessment went along, she did suggest that it was likely that the hospital program would be more appropriate for me. This was partly due to my physical care needs, superpowers with regard to falling abilities and also my tendency to dissociate in certain situations. The hospital program also seemed more suitable due to its slightly smaller group side which shouldn’t feel as daunting to me. I struggle in large group settings due to PTSD left over from bullying, and this massively can trigger me to dissociate. On the hotel program, you are with a group of up to 15 people (I believe) for the entire 3 week program – obviously this can be great if you get on with everybody and don’t mind larger groups, but I can also see it being difficult if you happen to clash with a fellow patient. With the hospital program, you come in to the program in a core group of up to 4 people, and work with people who have already on their 2nd or 3rd week of the program. This means that you meet new people every week, and there are also a maximum of 12 people per week. By the end of the assessment we had spoken through my potential concerns with the hospital program – namely that I didn’t see myself as being in need of greater support then others, and that my concerns of coping with such a full timetable/living on the ward, and I felt much more at ease. We laughed and joked a lot which really helped me feel comfortable, and I even spent some time showing off my doggy pictures!

After this, she led me out through the ward, showing me about a bit as she led me back to the waiting area. I was then free to go!

All in all, I was there for about 2.5 hours, tho my assessment was much longer then it normally would be (my poor mother was waiting around much longer then she should have been!)

I was told that I am likely to go into the program some time in January unless they happen to have any last minute cancellations. This seems surprisingly quick to me, and is slightly terrifying. The idea of the program is amazing – it will basically give me specialist and individualised knowledge and skills that I can use to start the process of rehabilitation. There will be a lot of 1-1 physio, occupational therapy and sessions with a specialist psychologist who deals with pain. These should teach me what I need to work on, and give me the tools to begin to change my routine at home in a way that may help me learn to live with both EDS and chronic pain. The scary side to this is that once I have completed the program, the responsibility is on me to be able to maintain the things I need to work on!

Once you have completed the program, you have a review in 3 and 12 months to establish how you’re doing, so I guess you aren’t totally alone.

All in all, I feel very grateful to have finally gotten to Stanmore. It won’t be a quick fix, and there is still no guarantee that you will be back to normal in the future, but what it can do is teach you how to live with your illnesses and chronic pain in a less disruptive way.

I really do hope that this is the beginning of getting things back on track – however far  that will takes me, it has to be better then here!

Getting Sick When Your Already Sick

One thing that few of us chronically ill people talk about is being ill – and this seems doubly true when it comes to getting a normal illness on top of it all.

When you are chronically ill, feeling a bit crap comes as an every day occurrence. You are already in pain, exhausted and feeling that fluey feeling most people only experience with the actual flue. Personally I find that what I really mean when I say ‘I’m fine thank you’  is actually ‘I am in so much pain I could puke and I’m so exhausted that I feel a tad on the dead side, but thats nothing out of the ordinary thanks’. I do this because like many others, I assume that I am rarely talking to someone who would actually want an honest answer – after all, I suspect most wouldn’t be able to figure out a reply without a spectacularly awkward silence first. My illness is something I have tried to push out of focus to the world around me – I take pride in my ability to mask the bad times and make people forget that I’m ill. After all, I am a woman first and an illness last.

However, let me be the first to tell you that getting ill on top of being ill is not much fun! Today I woke up with a sore throat, a fever that has been raging all day, skin so sensitive I want to peel it off, and that general fluey fog you get with being ill. I have gone between shivering and being so sleepy that I can’t keep my eyes open, and spent most of the day feeling like the world was moving.

Now, for all you well people out there – imagine having the flu, and then adding it to all of the symptoms EDS and POTS gives someone day-to-day. Add it to the joints popping in and out of place all day, the usual constant headache, tight muscles, chronic pain and brain fog (yes, you get a doubly foggy brain!) Add that to issues with swallowing, tachycardia, postural dizziness and fatigue. On top of all of that, add in the nausea, back ache, odd temperature regulation, insomnia and TMJ (jaw) issues. I am not listing everything here, but you get the idea. We already feel like crap day to day, so when the double whammy comes, it tends to hit us hard.

Even on a day like today, I hide it, even tho its perhaps more socially acceptable to talk about this type of illness. I may mention in passing that I’m feeling ‘a bit crap’, but what I actually mean is that I feel bloody horrific. I shut myself away, and I wait for it to pass, all the time knowing that when I get better, I won’t really be better at all – I will just be chronically ill rather then chronically ill with bells and whistles.

The one upside, is that being chronically ill will feel much better then this does.

Part Two of ‘The Not So Sexy Side’…

Part Two of ‘The Not So Sexy Side’…

As you may remember from one of my older posts, EDS causes problems only a woman can get. Pelvic organ prolapse is usually something only reserved for those lucky women who are older and/or have had kids, yet with EDS we often get this thrown into our 20’s free of charge!
Pelvic organ prolapse referes to a prolapse within the pelvic region. A prolapse means that the muscles and ligaments (in this case within the pelvis) have stopped being able to support the organs sufficiently, and this leads to hernias. In pelvic organ prolapse this can be concerning the bladder (a cystocele), the rectum (the rectocele), the small bowl (an entrocele), the uterus (utrine prolapse) and a vaginal vault prolapse (a prolapse following a hysterectomy). With pelvic organ prolapse these organs bulge into the vagina causing an array of fairly uncomfortable symptoms.

 

Having finally been diagnosed with a prolapse after a 2 year fight with medical professionals, I was eventually referred to a local gynaecologist to get things sorted. Being of typically English sensibilities, it was not exactly the least embarrassing appointment I’ve ever attended!

I spent the few days before my appointment in obligatory panic mode. What if I was brushed off again? What if it wasn’t a real illness and I had made everything up? What if I would be laughed out of the clinic in shame?! I am aware non of this was a logical thought process seeing as a professional had already diagnosed me, but with EDS a diagnoses is often brushed aside when it seems inconvenient for the next professional to take into account. I am so used to having to fight my corner that I get huge anxiety before each and every appointment. With this appointment, I thankfully needn’t have worried.

 

As soon as I stepped into the room, the doctor was friendly. The more nervous I am, the more I spout random nonsense, and what with this particular appointment concerning my lady bits, there was a lot of nonsense being spoken. Thankfully, she was more then happy to join in with my nervous chatter.

She started off with some questions concerning my symptoms. We spoke about pain and a downward heaviness down below, issues with incontinence, issues with intercourse etc. She kept the questions going, so there were no awkward silences in which I could get painfully embarrassed.

 

Next came an internal exam – I was expecting the cystocele, but it did come as a bit of a shock when she also diagnosed a utrine prolapse and rectocele. It seems the party for one just turned into a party for three down there.

My options for treatment at this stage are limited. I will eventually require surgery as these issues don’t fix themselves, but as I am still to have children, and own particularly crappy collagen, they would rather try ‘conservative measures’ first. These consist of specialist physio therapy focusing on training up my rather lax pelvic floor, and the use of a pessary – a silicone device inserted into the vagina that helps to hold everything back in place.

1-pessary-image
A selection of different pessaries

 

The physio doesn’t sound like a whole lot of fun – obviously to retrain your pelvic floor, it requires feedback, and from what I can gather this will be via another person and via specialist equipment. I am not by nature prone to flashing my bits to random strangers in hospital settings, and this will be no less embarrassing then turning up to my own wedding naked. I know that. The physio will largely be aimed at trying to halt the progression rather then curing it, and that is a thought thats hard to swallow.

The pessary is probably the thing that I am struggling most with. There are many different options from your doctor to choose from, each supporting different areas and providing different levels of support. Some will support just the uterus, the bladder, the rectum – some will support more then 1 area. There are things like a ring pessary for those that don’t require as much support, and then there are ‘space filling’ pessaries for those that require a little more help. I am unfortunate enough to end up with the latter. I have been given a cube pessary. This is basically a silicone cube which has indents in that form suction to support the walls of your vagina, complete with a rather undignified silicone cord – just incase you manage to loose where it is up there! For the cube pessary (all pessaries require different care), it needs to be removed every night, washed, and left out until the morning, when you have the really fun job of trying to stuff it back up there whilst trying not to swear – really not an easy task, especially when you fling it half way across the room and have to race your way there before the dog thinks he has a new chew toy (yes, that really happened)!

It is not so much the rigmarole of using the pessary that is the problem – its knowing that I need to use it. I somehow feel less attractive. As it can’t be left in during intercourse, I am dreading the day I will need to push a hand away and shimmy off to the bathroom to get the thing out before things can get started – spontaneity in the bedroom is truly a thing of the past. I feel embarrassed knowing that its now a part of my personal life, and worried about how people will react. As a young woman of 29, it feels unfair that my body has given out now – it is rare for women that haven’t had kids and especially rare for  young woman to suffer with pelvic organ prolapse, but thanks to EDS it here, and its here to stay.  I can cope with so many of the joys that EDS brings to the table – the pain, the subluxes and dislocations, the difficulty swallowing and digesting food, the fatigue – but for it to affect my lady bits just seems like a massive step too far.

As if I wasn’t a crap enough catch before, yet more super attractive health issues are handed to me on a plater!

Tomorrow morning I have a super early appointment to go back to the gynaecologist. Pessary fitting is a bit hit and miss – its basically trial and error to find a shape and size that works for you. Unfortunately mine is shifting down throughout the day and pressing into bits that really don’t want to be pressed. With the right size and shape, in theory it shouldn’t move about, expel from the body or even be noticeable to the wearer – lets hope I find the right one soon! The doctor very kindly offered to see me after being on a night shift to try another size or shape, so I somehow need to make sure that I am up bright and early to duck in for a repeat embarrassing experience.

EDS is one pretty tricky bedfellow to manage these days.

Dealing With Loss

As most of you know, the last few years have been tricky. For someone that used to be thoroughly independent, active and energetic, adjusting to life with an illness is tough.

Recently I have been reminiscing. All of the years spent at music college, I spent my time swinging between love and hate. I loved the sense of excitement and freedom when playing with others, and the means of expression I had when playing beautifully sad music. I loved the social aspect, especially those late night rehearsals with a cuppa (or wine) in hand on a dark and cold winters evening. I even enjoyed early morning practice sessions once I got into the habit of getting up on time! I also enjoyed performing eventually. It took me years to get past the persistent “I’m not good enough” voice – that was my toughest challenge of all. The first couple of years I couldn’t stop sabotaging myself before a concert. I would end up not practicing for 3 weeks before a performance, which I suspect was a way of allowing mistakes without a sense of my whole self being unacceptable. Once I got past that tho, performing turned into a favourite. I was excited to play, to share. I was able to start being myself.

By the time I left college, I thought I had had enough. Try as I might, I was never satisfied with my work, and it was exhausting to keep pushing toward a goal that doesn’t exist. Perfectionist tendencies aren’t always a great thing! I had stayed with my teacher long passed our prime, and I became frustrated. I wanted to move forward in the last year there, but it felt like a mountain I couldn’t climb without help, and I didn’t have the energy to fight for it. I was ready to throw everything in to my final recital, but most of my lessons that year were frustrating and disheartening. With hands that went numb mid piece, and a lung capacity better suited to a mouse, I couldn’t attain the standard I needed. I’m pretty sure my teacher grew just as frustrated as me.

During my last couple of years at music college my health got noticeably worse. The pain I had experienced from the age of 12 got significantly worse, and I started to suspect that it wasn’t just music to blame. No other musician I knew was waking up 4 times a night in agony, or needing to lie on the floor to find their breath again. My fatigue worsened, my heart was galloping of at 130BPM at rest, and much higher as soon as I was up on my feet. I was constantly fighting to get enough air, which as a recorder player proved quite an issue! In short, music was becoming an unrealistic goal. It became a case of pushing myself through to the end of my course so that I had a degree under my belt, and accepting that I just couldn’t play at my best.

After leaving, I spent 1/4 of a term teaching, and a full 7 months working as a carer. I loved working with mental health, and figured that was a direction I could head to. I would work enough to do a postgrad in art therapy, and then work from there on in. That was the plan, but unfortunately my body thought otherwise.

In November of that year I got optic neuritis (swelling of the optic nerve), and ended up on a long course of very high dose steroids. Contrary to popular belief, I didn’t end up with gym sized muscles, but a couple of walking aids instead! In reality I can’t be sure if the steroids really did finish me off, or whether I would have headed in this direction anyway. My life closed up into being mostly housebound, and I had lost everything.

Today, I am marginally better. Not because my body is any fitter (quite the contrary in fact), but because I am accepting the help I need. Looking back at my studies, I would probably say that I needed walking aids sooner. In reality, POTS and EDS were taking their tole, and I can’t help thinking that if they had of been managed properly, I may have ended college on a much better note. Perhaps I could have managed that first I missed by a couple of marks, or ended my recital on a real high. Perhaps I could have carried on playing for longer.

Tonight I have a painful ache for my past life. No matter how much I struggled, I can’t help feeling that the music I learned for 22 years is being wasted due to the conditions I am living with. I miss playing, and I miss performing. I miss that sense of freedom I experienced in fleeting moments, and the challenges that came with trying to attain it. I miss striving for goals, and being driven to work hard for something that might just be possible. Most of all, I miss the music.

In many ways I am blessed. I have found other ways of doing things, and on a good day, I can pretend that it has been my choice to choose another path. I have other hobbies in my life, and I still have the dream of getting fit enough to study and work again. All is not lost – it can’t be. I refuse to life this life for another 60 years.

Loss is a very tricky beast when it comes to your health.

Being Dismissed After Diagnosis

One of the most frustrating things about Ehlers Danlos Syndrome is the utter ignorance held by most medical professionals I have come across. The two areas who seem to dismiss it most are rheumatologists and physios. Both of whom I have come up against in the last few weeks, and both of whom I have been very close to wanting to hit!

I was diagnosed with EDS years ago. You would think that the label would suffice, and that treatment could then be forthcoming – this would be the logical route for things to take. The reality though is very very different.

Every time I see someone new, I can almost guarantee the comments and ideas that will get thrown about. First off, it is never taken as read. Every appointment I have with a new person leads to a completely fresh assessment – running through the beighton score, coming out with totally different scores every time. Dismissing the pain, and usually leading to comments about how its ‘just a bit of hyper mobility’ or that hEDS is just ‘Benign Hypermobility Syndrome’. Every time this happens, a little bit more of my sanity is stripped along with it.

When would this ever happen with another illness? Would someone with a broken leg need a new X-ray every time they saw a different doctor just to prove it was broken? Would they be told its just a little sprain when the X-rays came back with proof? Would someone with heart failure really need a new set of tests so that they would be believed? Why is it that EDS is treated so differently?

Another idea that repeatedly comes up is that you aren’t that bad if you don’t score the whole 9 points on the Beighton score system. In reality, if you score over the accepted number, and/or have hyper mobility in other areas then it should still be counted. Just because someones knees may not be hypermobile does not suggest that issues with all other areas, and areas that aren’t included in the scoring system are not causing problems. This woman genuinely had the guts to tell me that my shoulders and hips were not a problem as they aren’t included in the list of hypermobile joints in the test! Apparently the fact that they continuously cause me pain, and sublux constantly are not issues worth considering. She made it clear that she had other patients who scored much higher, and that obviously as I didnt have the whole 9 points, it was ‘benign joint hypermobilty syndrome’. When I explained to her that a) I fit the criteria for hEDS (taking time to explain the other criteria she hadn’t touched upon), and b) benign  joint hyper mobility syndrome is no longer a term being used anymore, she came out with a very sarcastic ‘Well you’ve been reading up then’.

I was also told yet again that my pain was obviously effected by my mental health. In all honesty, with EDS it is more then likely that this is the other way round. Sure, I have had mental health problems in my time, but I can quite safely say that I have the same levels of pain when I am happy as I do if I am depressed. The pain levels don’t change – but my ability to cope with it does. Our pain is not psychological. It is caused my recurrent joint subluxions and dislocations – in no other area would someone with a dislocated shoulder be told that it doesn’t cause pain, so why is it that we are told this all the time? It is not the first appointment that I have been to where I would have gladly offered to dislocate their joints and asked them if it was really pain, or if it was just psychosomatic. By repeatedly insisting that we don’t really have pain, they are belittling the illness and continually knocking our confidence. Just because our joints are capable of moving further then most does not mean our bodies are designed to cope with it – it still damages, and it still hurts just like it would to anyone who isn’t hypermobile. Alas, I am not the incredible stretchy woman, as much I would like to be.

This particular referral was at the request of both my physio and GP. They both thought it would be useful to continue the work we had been doing, so I wasn’t expecting the reaction I had from this woman. She took great care to tell me that I had already had my fair share of appointments, and that this service is for everyone, and not just me. She told me that it wouldn’t really help me, and that they couldn’t see me long term (which I am quite aware of thanks), and really its just about ‘teaching you the skills to manage your condition’. She made me feel like I was some sort of greedy NHS hypochondriac rather then a patient – as if spending my time at a physio is what I really love doing in my spare time. I am fully aware that this is not long term, but I am also under the impression that I would have been refused a referral if it was deemed unnecessary. They don’t hand these appointments out like sweets. You wouldn’t leave someone recovering from a broken leg halfway through their treatment, so I find it quite unnerving that that is precisely what she wants to do here. Just because this is a long term condition really shouldn’t mean that you aren’t allowed to access treatment that will help you manage better in the long run.

The last big thing she said that was actually extremely upsetting was concerning the care that the social services have deemed appropriate for me to have in place. She looked at me like I had 5 heads when I told her about it, and then proceeded to tell me that ‘you shouldn’t be using it for things that you can do yourself like washing and cooking, you should be using it to better your life’. This was about 2 seconds after lecturing me about pacing for fatigue. Does she really think the social services have spare money flying around to give to people who don’t need the help? The hours I have been awarded are for things like personal care, assisting with cooking/cleaning and getting out and about. They were awarded because I can’t manage to do those things an awful lot of the time, and when I do manage them, I don’t manage to do anything else. In short, I need the help with the things I struggle with so that I can ‘go out and better’ my life. It was not an easy decision to reach to allow the assessment to take place, and it isn’t something I am jumping for joy about – as a 28 year old woman, I would rather do everything totally independently, but the reality is that at the moment, I have no energy left to have any sort of life, and that is far worse then accepting I might need a little bit of extra help. I know that I look well, but not everything is skin deep.

Every single time I have an appointment like this, I want to run away and hide for the next 20 years. It makes me question my illness – makes me consider the possibility that I have made everything up, even tho I have enough medical evidence to sink a ship. EDS isn’t all about the outside of your body – pain and hyper mobility are a big part, but I have a list as long as my arm of the internal issues my faulty collagen has caused. I wish that professionals would read the info as much as we have to, or at least listen to us when we have read more about it then they have. Judgement held over a patient for knowing about their health conditions seem laughable – surely an informed patient isn’t a bad thing.

 

BRCA2: The Journey Begins

As many of you will have read, I decided to undergo genetic testing a few weeks ago. We have significant family history of breast cancer on my dads side, and are of Ashkanazi Jewish decent – this is a big risk factor. Due to this combination both dad and his sister were tested for the breast cancer genes, and sadly came back as BRCA2 positive.

The choice to go for testing was not an easy one to make. I did my fair share of burying my head in the sand, but no matter how much I tried, the thoughts would randomly pop into my head. Fear of the unknown, fear of having the faulty gene, fear of my siblings having it, fear of cancer – just lots of different flavoured fear really. I would be in the bath, or driving down the M1, and all of a sudden my mind would flip onto it, and I would find myself going round all of the scariest scenarios possible – namely that I would test positive, and life as I had planned would no longer be an option.

At the just shy of 29, my risks would not have been out of the ordinary – for breast cancer, the risks start climbing at 30, and around 40 for ovarian cancer (at least thats the information I’ve been given).  However, it is more then just the risks to me I was worried about. I have always wanted a family, and although I am free and single at the moment (rather perfecting the art of the crazy dog lady), a positive result would have implications as far as my future children would go. So, knowing full well that I couldn’t put it off forever, now seemed as good a time as any to find out.

After a nail biting few weeks, I went to the genetics clinic to get my result.
Its amazing how much of an effect a few simple words can have on the rest of your life.

I sat down, and the genetic counsellor came strait out with “I’m really sorry to say this, but you’ve tested positive for the gene’.

I don’t really remember a huge amount more from that appointment, other then absolute terror, and a fair amount of water pouring from my eyes. The life I have that is already full to bursting with health problems just got a million times more complicated.

Yesturday I was upset. My gem of a neighbour who had offered to accompany me to my appointment escorted me back to hers for 3 very strong cups of irish tea. We spoke for an hour or so, thrashing around all over the place as my mind furiously sifted through too many scenarios to count. She was extremely patient with me, and allowed me to get my head together in my own time – I honestly don’t know what I’d have done without her being there. I then decided I should keep busy, and as much as I didnt want to, I headed to jewellery class where I could spend a couple of hours hitting things (mostly metal, but my hand is a little worse for where… it turns out my aim leaves a lot to be desired when I’m stressed!)

Today I just feel numb. I know that there are a million and one feelings hidden underneath, but I just can’t seem to find them. The prospect of now needing to consider prophylactic surgery is extremely daunting, and what effects will this have on my already difficult dating scenario? At what point would I drop this one into the conversation. “Hey, by the way not only do I have the body of a 90 year old, but these boobs you see here are for a limited time only, and if you’re up for having children its likely to involve microscopes and something resembling a turkey baster”… Not the ideal selling point.

It will be a process of letting go of the things I had dreamed of doing. A big thing for me has always been that I wanted to breastfeed any kids that I had, but if I choose to go for surgery, this will no longer be an option unless I risk leaving it till I’ve had them.  I had also never fathomed having the one part of my body I’ve never hated being lopped off by a surgeon and replaced with imposters. This will be a grieving process on a very personal level.

Fortunately, I really have stumbled across some amazing people who are supporting me. For all of the friends who have been dropping me little messages to keep my chin up and calling me and allowing me to talk until I find a stopping point without complaint, I can not say thank you enough. There are also 2 rather fantastic charities providing me with access to people who have trodden this path, and this is absolutely invaluable to me. I got a call from one volunteer to ask how my appointment had gone, and her response was exactly right for me – “I’m so sorry to hear that, but welcome to the mutant club!”

So, from one very stripy BRCA2 mutant, I will leave this post here for now. I will keep posting this journey alongside that of EDS and POTS, so I certainly won’t be short of ideas!