Jigsaw – a Rare Disease Day post

Puzzle piecesThere are no extra pieces in the universe. Everyone is here because he or she has a place to fill, and every piece must fit itself into the big jigsaw puzzle ~ Deepak Chopra

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Last time we spoke, dear reader – or at least last time I typed and you, hopefully, read my words – I’d left things at the moment in hospital, a few days after recovering from a near fatal reaction while having an operation to release/fix my Achilles’ tendons, when it’d been decided that I had a congenital muscle condition.  It was a brilliant neurologist – and slightly mad – who was looking into / working on me, at the time, and he had pretty much already made his mind up before he even performed the procedure to take some of the muscle out of my thigh and send it … somewhere … for testing.  The result would come back to proof his hypothesis but that was really just ‘belt and braces’ as he put it.

He knew what was wrong with me simply from the symptoms, from talking to me and my mother, and from the reaction to the anaesthetic.

At the time I think that we all – doctors, parents, and myself – missed something important; it was understandable, of course, so much change in such a short time and two medical conditions – spina bifida occulta and congenital muscular myopathy – diagnosed within days/weeks of each other.

What we missed was pretty much the fact that, after DECADES of not being diagnosed with anything at all I’d suddenly been diagnosed with two, different, conditions – both of which could’ve been responsible for the symptoms but, alternatively, could have been too easy an answer.

Let me take you back a bit, very briefly (or as brief and concise as I get when typing, which is really all that).  As I mentioned in a previous post I was a difficult birth and had to be delivered with forceps; growing up I was in and out of the doctor, and sometimes hospital, often but never for anything big or major:

–        I had breathing issues so had my adenoids removed and was diagnosed with asthma, even though my symptoms were atypical;

–        I had too many teeth, at an early age so had to have some removed;

–        I was short for my age and was investigate for growth deficiencies but, conversely I was walking just before I was nine months old;

–        I went through a ‘phase’ of passing out for no reason that was ever discovered.  This happened infrequently, but over an extended period of time.  It happened a couple of times that led to life threatening situations, such as passing out into a school pond and nearly drowning then, again, while at a Cub Scout camp on the beach, a few yards from the sea … at that time I was taken to a German hospital where a professor asked my mum if he could open my head up.  She said no, we moved Country, and new doctors started again.  Then I simply stopped passing out.

–        Then, sometime in my childhood (it is really hard to figure out when, though looking through old photos we can see some of the signs of it being there, but never a definitive period of when) my tendons stopped growing and I started walking on my toes.

I had a long phone conversation with my mother, who was talking to my father during it, the other night, when I was explaining what I was doing with these posts (obviously I had to start with what a blog was, but that was a WHOLE different conversation :)) and a lot of memories came back to them both, and to me too.  From that one question finally surfaced:

Why wasn’t anything spotted / diagnosed way back when?  I mean I saw a truckload of doctors, in various hospitals, across Europe; I had an MRI back when those things weren’t as common as they are now (and was actually escorted, by armed guard, into a secure wing of the Royal Victoria Hospital to have the tests due to the time period and my father’s job).  As said above a German doctor even wanted to open me up and test my brain as he though it was a neurological issue, but there wasn’t time to do so.

… that was part of the issue.

Lots of doctors, lot of ‘little symptoms’, no constancy or pressure to discover anything as nothing was debilitating, life threatening in itself, or obvious!  Each time we moved a different doctor would be looking at different things, if looking at anything at all.

A needle in a haystack?  I think, looking back with my knowledge now, that it was more like looking for a piece of hay in a field of haystacks … or the piece of a jigsaw puzzle when you don’t know what the original image actually is, in a box full of old, discarded puzzles.

If you don’t know what you are looking for, because it isn’t obvious, because it is atypical or … in my case … because it may not even have been discovered (from a genetics) point of view, then you really have your work cut out for you, don’t you?

My mother seemed to feel guilty, and wondered why no one had seen what is obvious now – that there was something wrong with me.  The answer was obvious – I was a happy, relatively healthy, normal looking, kid with great parents and doctors who did their best in difficult circumstances.  When the symptoms became more obvious, and the doctors finally had something to point at and actually, fully, diagnose, things changed and progress was made.

That is probably why they call it a rare disease, ey, because if it was common, or easy to find – treat – cure – then it would probably have a different name :)

However, as I said somewhere up there – I think that when symptoms do present themselves it may be easy – too easy – for a doctor to latch onto it, to the exclusion of other things.  Small child – possible growth hormone.  Breathing difficulties – asthma.  Tendons fused and crack in spine – Spina Bifida Occulta.  Malignant Hyperpyrexia and weak muscles – congenital muscular myopathy.

Now, of course – well five years ago – I suddenly got told that while I do have those other things I present as having a form of Congenital Myasthenic Syndrome (CMS)  too.  I’ve been told that there could be crossover in the symptoms and causes – rather than the tendons being the spina bifida ,for example, it could have been the CMS.  The breathing isn’t asthma, I know now, but it is because my breathing muscles, especially the diaphragm, simply don’t do what they are meant to do.

Now, I’ve been told it isn’t impossible to have all those things at the same time, just that it is uncommon – that it is rare.  That it is, like most of the rest of me, atypical.

… and there we have that word again, don’t we?  And it makes me wonder – and worry – that perhaps it isn’t three things they have discovered, that it may be something else that they haven’t seen yet or, worse, something that they don’t even know about yet (like the Higgs Boson, I suppose, I’m waiting to be discovered by a scientist – just need my own, personal, Large Hadron Collider! :)).

I sometimes feel, especially when looking back at all of the ‘pieces’ throughout my life, pieces that could – and eventually did – lead to multiple discoveries of multiple underlying issues, any or all of which could be THE definitive issue, that I am nothing more than a jigsaw puzzle.

Unfortunately I am a puzzle with many pieces, with a plain box, and no straight edges; I’m a puzzle that is made up of similar colours and patterns – maybe even just an all, black, puzzle; I’m in a box with hundreds of other puzzles, all complex, all complicated, all slightly different – all atypical.

Many pieces, many puzzles, and no-one quite knowing how to put it together.

That is kind of how I see rare diseases, and kind of how I see myself and how I live with mine.

That is WHY I’m doing this – why I’m rambling on about myself, or the conditions, you see.  It is dreadfully hard to diagnose rare diseases simply because they ARE rare – so the more that doctors, and the medical profession as a whole, know about them the more that they will be able to help other people.

The more that they know about me, the more that they will potentially be able to help others like me.  That maybe, by doing this, I am a piece in the bigger puzzle … and some day another piece, of another jigsaw, will hopefully fall into place.

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Rare Disease Day 2012If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!


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