Truth and acceptance – Rare Disease Day post

Rare Disease Day 2012“All truth passes through three stages. First, it is ridiculed. Second, it is violently opposed. Third, it is accepted as being self-evident.” ~Arthur Schopenhauer

I was recently told that I have a problem, a rather serious problem, and that can be summed up in one word: acceptance.

In order to try to ‘recover’ and to move onwards and upwards, I’ve realised that I have to accept a truth that I have been either opposed to admitting I have or making jokes about as if it is nothing, or has no affects.

So, to that end, I am going to borrow a very well-known phrase:

Hi there, my name is Jay and I’m a sufferer of a rare disease.

… oh, sorry, you thought that I was coming out as an alcoholic?  Never touched the stuff, sorry J

Joking aside my neurologist, among others, recently told me that while I deal really well with the physical effects of my medical condition I don’t deal well with (if at all) the emotional or mental effects because I either refuse to consider that there are any, make light of them, or compare them to other, worse affected, people as if to say ‘don’t waste time on me, I’m fine, look after them!’.

However, as pointed out by the professionals, and to quote my neurologist’s recent words, I have ‘a complex and complicated medical condition’ and just because it isn’t visible, or chronically, permanently affecting me, doesn’t mean that it isn’t there, or having an effect.

So, what is this condition?

Simply out it is a two-fold, genetic disease – congenital muscular myopathy and congenital myasthenia syndrome. In terms of these being ‘rare’ diseases it is hard to know as not much is known about them (no pun intended) but some figures state prevalence for congenital muscular myopathy is rare but unknown, extrapolated at 1 in 500,000and congenital myasthenia syndrome having a prevalence of approximately 1 in 2 million.

This basically means that I suffer from the following symptoms/issues:

  • General muscle weakness / reduced muscle strength
  • Fatigability (progressive weakness with exertion, somewhat relieved by rest)
  • Aches / pains / cramps
  • Life-threatening reaction to general anaesthesia

Apart from the above the biggest issue that affects me is around my respiratory muscles; my intercostal muscles are weaker and I have prominent diaphragmatic weakness which, when taken together, leads to ‘restricted lung function’; simply put my breathing is shallower and I can’t take in, or push out, air to ‘average’ volume/capacity.

This doesn’t mean that I am any more prone to picking up any colds, flu or infections than anyone else just that, if I do contract them, it can affect me harder and faster, and be more difficult to manage or recover from.  In cases this may require pre-emptive medical intervention (such as hospital treatment) to ensure that I don’t require emergency hospital treatment, or suffer from respiratory distress or even failure.  The combination of the weaker muscles, the fatigability and the restricted respiratory function my thresholds for exertion/activity are lower, and my recovery time longer, which means that I have to be aware of my limits and plan accordingly.

Now, on a good day you would look at me and think what a devilishly handsome, well groomed with amazing hair, and healthy specimen that is … you would be right, of course (and have great taste too) though on closer inspection you may notice that I am a bit pale and while not drastically overweight could lose a pound or two to be at optimum fitness.

If you looked a bit closer you ‘might’ notice that I have ptosis of one eye – a droop in the eyelid – and depending on the day it could be marked or slight.  You may also notice that I may not be walking as fast as you, or that I am breathing differently – maybe not quite as well or as easy.  You probably wouldn’t think too much of it.

If you were with me for a longer time, and walked a while, went up an incline, used stairs or simply ‘exerted’ ourselves you would wonder why I was lagging behind – why I was slowing down – why my breathing was ragged – why I was, perhaps, wincing a little and rubbing my legs in discomfort.  If you asked me to hold or lift something slightly heavy you might be surprised to see that I couldn’t do it or, if I could, how much it took out of me.  Obvious pain and/or cramps in my legs, feet or hands could be happening. You might see the signs of great exertion and tiredness after doing very little at all.

Very little for you, of course.

You see that is the problem.  What is little – ‘normal’ – for the majority of people is an effort for me.  What is easy – ‘normal’ – for the majority of people can be difficult for me.  What takes a short time – a ‘normal’ time – for the majority of people to get their strength and breath back is doubled, or tripled, for me.

However, you probably wouldn’t see it unless you were with me all the time, you knew what to look for, or I let you.

… and I rarely, if ever, let people see those signs of pain, discomfort, or weakness.

I prefer … preferred … to hide and mask it, to make jokes, to have secret, hidden coping mechanisms in place to avoid the activities that would expose my problem.  Even if I was experiencing symptoms I wouldn’t admit it – not even to those closet and dearest to me – the ones who knew I had a problem, who could and would help, but who weren’t allowed to because that would be accepting the problem.

My whole life, as far back as I can remember I had to work twice as hard to stay half as fit.  For a time it worked rather well, obviously, as I have multiple martial art black belts/sashes and still teach it.  Twice as much effort, for half the reward, though.

Recently – about four or five years ago – I reached a point where I was working harder and harder to stay less and less fit.  Then a period of consecutive illnesses – little ones, for the ‘normal’ person, like chest infections and tonsillitis – that wore down my immune system, my energy and muscle reserves, and my very ability to actually exercise to stay fit.  So the genetic issue itself finally caught up with me and, to be honest, overtook me.

Basically the coping mechanisms didn’t – couldn’t – work as much, if at all anymore.  It was obvious that I could walk as fast or as far, do as much as often, recover, etc … I was actually suffering from (rather than living with) my condition.

In September 2011 it came to a head with a minor upper respiratory tract infection … a small ‘bug’, a minor inconvenience, to you ‘normal’ folk.  In October 2011 I was rushed into hospital in respiratory distress and came very, very close to respiratory arrest.  I was kept in hospital for a week, on drugs, oxygen, medical intervention, physio and more simply to keep me breathing – at one stage I was told that they were basically going to put me in a mild coma and ventilate so that I didn’t have to breathe for myself until I got enough strength to do so.

It is now February 2012 and while much, MUCH, better I am not back to where I was before the infection.

So, there comes a time when you can’t lie to others, you can’t even lie to yourself, and basically have to admit and accept that there is an issue.  Doing so won’t make things better, they won’t give a magic bullet that cures all the defects, but it will mean that you don’t waste time and energy on deflecting the questions and concerns, and you won’t push away the hands that could and would help if they knew that you wanted or needed it.

I’m lucky, you see, because I’ve always had those hands there – whether I wanted them or not – I’ve got great, great family and simply the most amazing wife anyone could be lucky enough to have (not that anyone else can, she’s mine!) so if I wanted, needed or asked for nay help or support at all I’ve always had it.  I am – or was – just too stubborn to always accept that I needed, or deserved it.

Acceptance lets you finally take a breath and say ‘I have a problem’ – then actually and actively work on living with (rather than suffering from) the complications this brings.  It also lets you accept that things could be better but could be worse.  Acceptance also allows you to use your experience, and your story, to bring awareness to the fact that rare diseases exist and, hopefully make other people come to terms with their condition or that there is something that they can do to help others.

So, I will admit that I have a problem but, from now on, it isn’t one of acceptance!

@rarediseaseday #raredisease