Wednesday 4 January 2017

The road to Cork

As regular readers will know, I was diagnosed with joint hypermobility a while back (although this was nothing new to myself) and very possibly have dyspraxia (they seem quite commonly linked). However, I find myself in the predicament of being too unwell for physio and occupational therapy, and can't get any doctor to take me on or even advise me in my current state. Low muscle tone, no stable core, lack of balance and frequent subluxations... All becoming worse over time, as I continue to not acquire any medical help. But everyone in my GP office have been truly great, all willing to learn and research and try me on different medications. If it hadn't been for one doctor there stepping out of her comfort zone and putting me on Baclofen a few months back, I honestly have no idea what state my body would be in now. I'm far from being healthy but I'm a long way from where I was before I began taking Baclofen. It's one of the many reasons why I feel so strongly against both medication shaming and anti-science baloney (as well as pseudo-science). The wonders of medical science and the amazing things we have achieved as the human race leaves me in awe and amazement on a regular basis, so I loath any click bait scams that threaten our gullible society back into caves. 

...Well it wouldn't be a blog post if I didn't go even slightly off topic, haha. Right, so where was I...

So a bit about joint hypermobility: 

Having hyper mobile joints literally just means that your joints over stretch the usual range. If this is accompanied by pain it is often referred to as joint hypermobility syndrome. The joints over stretch, and as we looked at, can cause frequent subluxations or even full dislocations. This leaves me and many sufferers in constant pain. I find my subluxations were causing my muscles to react in intense muscle spams, which increase my pain (as well as make me look like a big, flailing fish on dry land), hence the need for Baclofen.

Many people are hypermobile/ double jointed, but they may not have any pain. So, if someone like me encounters a doctor who is not knowledgeable on such conditions as EDS, they may confuse the two.

The terms hypermobility syndrome and Ehlers-Danlos (type 3) are interchangeable, but really are the same thing. Some doctors simply prefer one from the other, and of course, using the term "joint hypermobility" spells the issue out in a more obvious way. To define hypermobility, doctors often use the Beighton scale in evaluating patients. If you Google images associated with EDS, you will find the extreme versions of the condition -please note that in order to be considered hypermobile, you don't have to have all of these signs, and you may not stretch as exactly in these photos. For instance, I can pull my thumb closer to my arm than most other people can, but not all the way to my arm as in the picture below:

In this example, I stretch enough to be considered hypermobile, even if not all the way. Other joints do over stretch to the full extent, and I'll talk a bit more about my personal case below -I just think it's important to note that you may not be as extreme as you will see in photos of the condition. While hypermobility is common in children, we all lose some of our elasticity as we get older -and those with hypermobile joints can be the same. In my own case, my body can stiffen and become very tense, due to the muscle issues. Being so tense and rigid goes against my body's usual hypermobility, and so it can make it hard to spot in older patients. Many specialists now use the Brighton scale, as they see a strict Beighton as outdated.

The cause of EDS lies within a fault in our collagen, the most abundant protein in the body that helps hold everything together (present in skin, joints, blood vessels -which is why symptoms can be so vast and hard to link). 

Because of this, the condition is more than just hypermobile joints and pain. A specialist will diagnose it on several criteria, including examining the patient and asking about medical history/ family medical history. Someone with EDS hypermobility type may have (although may not have all) some of theses symptoms:

* As we already said, hypermobile joints with pain
* Velvet like skin 
* Stretchy/ stretchy-ish skin
* Poor wound healing 
* Burst scars
* Early onset of eye issues (cataract, dry eyes, etc.)
* Easy marking on the skin (from clothes, scratches, etc.)
* Easy bruising/ unexplained bruising
* Fatigue
* Digestive issues (heart burn/ GERD, constipation -the list is endless)
* There also seems to be an increase in congenital hip dysplasia and dyspraxia within EDS patients
* Other secondary issues arising later in life may include cervical instability, flat feet, and many other complications
* Looking young for your age! Yep, the one good thing about having all this collagen is that you may look younger than your years and have less wrinkles

Please note other forms of EDS have added symptoms, and I'm writing notes about type 3 -brief notes at that. It is hereditary, although genetic testing is currently unavailable for this form. There is no cure, management depends on individual issues and current abilities. Some patients may never work, while others may manage to work full time (at least for part of their life). As with similar conditions, issues and symptoms change from person to person and even throughout someones lifespan. Early intervention is key, although misdiagnoses is very common. In Ireland we have zero designated specialists, although we have a handful of physios, occupational therapists and rheumatologists who are aware of the condition. Many Irish people travel to the UK to see specialists, paid from their own pocket. This is why I am waiting so long for an appointment in St. Vincents in Dublin. They are one of the few hospitals who will see EDS patients like my case, although as far as I know they do not diagnose (or at least, I haven't met anyone that was diagnosed there). The nearest Ireland seems to have to an actual diagnosing specialist is Brain Mulcahy, a consultant rheumatologist based in Cork.

And it was here that I attended (privately) last November. Why bother with a full diagnoses? You might be wondering. After all, I had the hypermobile diagnoses, there is little to no treatment for EDS in Ireland (no treatment, in my case), my doctors were working on the assumption I have EDS and so it wouldn't change my medications, or treatment in anyway... Not to mention we live hours away from Cork, plus the expense of going private. Two reasons: I just wanted it. For me. I wanted to know it was a definite case of "this is what you have". I've went 31 years not knowing, searching for questions, and battling a healthcare system based on my address/ their unwillingness to even refer me as far as Dublin. And secondly, for future reference, like disability forms or future surgeries (that wound healing issue has been part of my medical history and I have't realised it until my talk with Mr. Mulcahy). Even down to the possibility of having children, and issues that may bring -for both my health care, and theirs.

So for anyone out there in Ireland thinking they may have EDS, and who are considering either taking the leap to go to London or to Cork: It's pricey, but worth it. Speaking with a doctor who understands your condition is invaluable to our mental well being.

💙Please watch this video and share on social media to help spread awareness -as a sufferer it really hit a nerve with me (may have cried a little bit first time I watched it, lol). While you might think it odd that I wasn't properly diagnosed until I was 31, it isn't uncommon... It's all very too common with Ehlers-Danlos syndrome, for sufferers world wide💙

The appointment cost for EDS evaluation with Brian Mulcahy is €300 (follow ups are €100 a visit), and the hour long investigation is spent examining your stance, walk, posture and general mobility. He will ask you to touch your hands to the ground, stretch your fingers back, mark your skin to see how long the change in colour lasts, examine scars and of course, ask you questions about your general health, your medical history and your family's medical history. It's a thorough process. To book privately, simply ring his receptionist.

I learned quite a bit from the appointment. I have read a lot on the subject the last couple of years,
including others personal stories, but I was still surprised about some of the smaller elements that I had not associated with having EDS, or even viewed as abnormal. For instance, he asked if I "marked easily", such as by wearing clothes or leaning on chair/ object. I answered that I didn't think I did, no more than anyone else. When it came time to take my trousers off for examination (a light, loose pair of tracksuit bottoms), he noted all the marking on my legs -from clothes! Having pale legs only made the red marks and dents even more noticeable. I laughed -I really had never thought about it. My legs looked ridiculous, and I felt like a fool for never seeing it. I think this is a normal mindset, where you base the norm on your own experience and on your own body. Whenever I'm asked do I have a certain symptom more so than "the norm", I never know how to answer -how does one know what others experience?? How do I know what's normal and what is considered odd? Up until quite recently I thought everyone could touch the ground without bending their knees. And it was only in my early 20's that I realised not everyone experienced constant pain.

By the end of the consultation he noted my knees as being the main area that currently need the most immediate work, and while I hadn't previously noticed the extent of damage to that area, I have to agree. Floppy isn't the word. I knew I struggled with standing, especially without footwear on, but I hadn't realised how... "mushy" my knees are! I'm not sure is mushy is the right medical term, lol, but I have a pocket of extra skin/ liquid/ collagen (I'm really not sure what it's mainly made of) above the knee, and absolutely no muscle holding the joint together. He advised only walking in the swimming pool for the next few months, and then maybe build up from there (I can't swim, no matter how hard I try -this apparently can be a dyspraxia issue). But he said to just simply walk, the water should help support my body. So that's what I've been doing since the appointment.

I try go to the pool 1-2 times a week, and exercise in the pool for around 30-45 minutes. I change between walking/ marching, stretching and holding onto the side as my legs swim. It's hard going, I'm not going to lie, and there's been a couple of accidental subluxations when I get carried away and overstretch, har. But I can feel the benefits and hopefully in a few months, my knees will more stable and my balance stronger. Maybe then I can build up to long walks (outside the pool) and something like yoga or pilates. And maybe then I could finally get a surgeon willing to operate and help my hip dysplasia? Who knows.

Two obstacles standing in my way from hitting the pool more often: 

1.) Fatigue. Always a biggie. Regular readers will know that I've been suffering with ME/ chronic fatigue particularly the last couple of years. Any exercise hits me like a train the next day, even just simple socialising with friends. So I have to be careful to pace, and not over do it in the pool just because I'm feeling ok that day. 

2.) And secondly, my increasing eye issues. I'm still using the drops and night gel, but my sight is becoming worse, with an increasing number of days each month that I cannot see/ have eye pain and blurriness. My GP has booked me in with an optometrist, so hopefully I get that appointment soon. Getting a grip on at least that issue will hopefully help me be able to exercise more/ get out of the house more often. 

So that's where I'm at right now. With my diagnoses confirmed, but no real change. Slowly but surely, just taking things one day at a time. And I'm really loving the pool/ being in the water!

...If anyone out there has any questions about EDS, feel free to mail me on my Facebook page or to leave a comment here. Maybe you have been misdiagnosed but think you may have Ehlers-Danlos (extremely common), or you want to learn more about the condition (the internet can be a minefield, I'll point you in the right direction). If you're concerned about you or a loved one having similar issues, drop me a line. Whether I know you or not -as I said, EDS is hereditary, so I may have relatives reading this right now who have questions.

Or maybe you're already diagnosed and want to share your story -would love to here from you, maybe even do a little Q&A about your diagnostic experience in a  future blog post!

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