Four little words – a Rare Disease Day post

Rare Disease Day 2012Do, or do not. There is no ‘try.‘” — Jedi Master Yoda

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It is now 29th February, which is important for two reasons – it is my birthday and it is Rare Disease Day.

Now depending on your perspective one of those is more important than the other. I’ll let you into a little secret and tell you which it is for me. I am a year older but don’t feel much different than I do any other day of the year … I’m tired, I’m sore and I feel like I’ve been hit by a truck, by that is normal some days; I had a really nice day, being spoiled by my wife and children … that is something that happens most days too, and I realise how lucky I am to have them; I’ve had a tonne of well wishes and greetings from all around the World, with people simply being nice to me … and I am so lucky, in my life, that that is a regular occurrence.

So, yes, it is my birthday – and it is a special one too, especially as it is a Leap Year, so a ‘real’ birthday, but ultimately it is just another day.

Rare Disease Day is so much more important than my birthday – than me personally – and that is why (instead of lazing around, opening presents, eating cake, etc) I spent the day at Stormont, home of the Assembly / Executive in Northern Ireland (our Government, basically) to help try to raise awareness and support for Rare Diseases here. Today was the day that the Northern Ireland Rare Disease Partnership was officially launched, along with a report by the Patient and Client Council, which captured how people were affected by rare diseases in Northern Ireland.

That report, based on a survey conducted of 132 people (both patients and carers) – one of which was me – affected by over 60 different rare diseases, reveals:

· 29% of patients wait between 1 and 5 years for a correct diagnosis and over 20% wait over 5 years;
· 34% of patients are misdiagnosed – 20% of which received inappropriate treatment as a result;
· Patients have to attend multiple appointments with different health professionals to obtain a diagnosis and it is frequently a battle to do so;
· 57% of people caring for a person with a rare disease do so for more than 20 hours a day;
· Over 40% of patients described their experience of the health and social care service in Northern Ireland as “poor” or “very poor”, and nearly a quarter described it as “average”. Only a third of patients described their experience as “very good” or “excellent”;
· Patients also reported feeling ignored by doctors, and that there is a lack of information and support for rare disease patients.

I sat there, and listened/watched the findings of the survey, the personal stories of people affected by rare diseases, the determination of the people behind the Northern Ireland Rare Disease Partnership, and even Edwin Poots (MLA) the Minister of the Department of Health, Social Services and Public Safety in the Northern Ireland Executive pledging his support and realised that I wanted to do more than I have been.

Admittedly that isn’t too hard. Until recently, as you know if you’ve been reading this blog for the last month, I didn’t even tell people that I had a rare disease myself so all I have been doing is using my own experiences as a sounding board for others. I don’t know if that has achieved much, or helped, but the responses I’ve got have been heart warming and humbling.

So I wanted to do more. At the conclusion of the event I spoke to the Chairperson of the NIRDP, Christine Collins and her colleague, Fiona McLaughlin, and told them about me. I didn’t really hold back at all – which is much harder in person than it is behind the safety of a keyboard – and I then told them about what I do for a living. At this point I took a very deep breath and told them that I wanted to help them in the amazing work they are doing for rare disease awareness and support in Northern Ireland … and they were very, very pleased to hear from me indeed.

So much so that I seem to have joined the Northern Ireland Rare Disease Partnership and am now going to be their IT/Social Media person.

I suppose that counts as me ‘doing something’, doesn’t it? :)

It made me think, though, about myself, how I live my life, and how I make my choices. I teach martial arts, as I’ve mentioned before, and one of the lessons I learned early on – and a KEY part of how I teach all of my students today … whether they are fit, able bodied, unfit, or physically different … is simply this:

Don’t tell me what you can’t do until you’ve tried – and then, if you really can’t do it, fine, tell me what you can do.

You see it is easy to say that you can’t do something, especially if you have never tried. It is even easy to use an excuse of a handicap, or physical limitation, as a security blanket – I know this, I’ve done it myself. Easy, however, isn’t the same as right.

Something that shouldn’t come as a shock to anyone is that life isn’t always easy. However it is something that we all have to do each and every day – the only alternative, after all, to living isn’t much of a choice we want to make ;) Too often I think that we all give up before we’ve tried, or think that simply trying is enough. It isn’t. Doing is what we should all commit to, not trying. Even if we fail we simply do it again, and again, and again until we can do it.

Or, if we really, really, can’t do it then we step back, have a break, think about it, and move on to something that we can do.

For me personally I am never going to be able to do something of the things that I would love to – I mean I’m not going to represent my Country in the Olympics (archery and/or fencing would be my choices) and I’m never going to be a World class, classical, violinist.

However this isn’t because (or at least not solely because) of my genetic peculiarities. There are seven billion people on this planet and how many of them represent their County at the Olympics, or play violin at a top level? Yeah, not many.

However, I don’t focus on what I can’t do – I’ve done SO many cool and amazing things: I’ve got four black belts in martial arts, I’ve swum with dolphins, I’ve played in front of a crowd in a rock and roll band, I’ve had my writing published professionally, I’ve worked for Marvel Comics (albeit it for only a few days :) ), I’ve driven across Europe on my own trike, I’ve got the two most beautiful and perfect children in the World, I’m married to an amazing woman who simply completes me, I learned to walk again, I didn’t die when I might have died, I’m in great shape, all things considered, and I have learned to know – and work within – my limits.

Do you know why this is?

I’ll tell you and this is as close to advice as I will come to giving anyone who is reading this.

Don’t ask this question:

What can you do?

Make this statement.

Do what you can!

It is the same four words, just changed around a little – and that is me, that is my life. I am the same as everyone else, I am the same as I would be if I wasn’t a member of the exclusive rare disease club, but I’m just changed around a little.  I just have to, sometimes, do things differently.

I decided either to do or not do. If I don’t want to do something fine. I don’t do it. But I don’t pretend that trying is the same as doing. They are two completely different things.

So I don’t ask myself what I can do, not anymore – and never again – I simply do what I can … I DO them; I don’t try.

Thanks for reading.

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If 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!

@rarediseaseday #raredisease