In the beginning – a Rare Disease Day post

Rare Disease Day 2012I was asked about this so I thought that it was as good a topic as any for my day three post on raising awareness about rare diseases.

How did I find out that I had a rare disease?

I died.

The end.

OK, that isn’t completely true, now is it? No, that last part, where it says ‘the end’ obviously wasn’t so. However, the other part was.

Let’s go back a bit further though; I didn’t seem to want to come out of the womb and so was delivered by forceps. That ‘may’ be a little too far back but as one of the consultants said that any birth complications could be relevant it was worth mentioning … maybe the fact that I was born on the 29th February is relevant too, as that is sort of rare ;)

Anyway, I wasn’t especially ill, or sick, as a child – at least not to the extent that I was obviously ill, or sick, in terms of being diagnosed with a rare disease; that came about 16 years later. I wasn’t especially sporty, and had more than average time off school with bugs and the like. I was also shorter for my age than was average. I went through a ‘phase’ f passing out, or fainting, or losing consciousness for a while too but that was never pinned down to anything in particular and simply seemed to stop (weird, I know). On top of that my Achilles tendons didn’t grow with the rest of me though, for quite a while the doctors that looked at me put it down to ‘attention seeking’ … yes, that’s right, they thought that a small child, who moved around a lot due to his father’s job, thought that it would be fun to bring MORE attention to himself by walking around on his toes so that other kids could call him ‘Twinkle’, or ‘Ballerina’ (they were the nicer names, so let’s leave it there).

Thankfully, at some point, my parent’s barraging of the doctors hit home with (from what I recall) a crusty old Royal Air Force doctor who actually realised that I wasn’t choosing to walk on my toes but, rather, that my feet simply couldn’t touch the ground as my tendons were too short (obviously many years at medical school doesn’t always make these things obvious … I blame the fact that most doctors are content with ‘practising’ their profession instead of getting good at it! ;) ). Upon hearing this news my folks made the decision that any parent would do … they packed up and moved country.

Seriously. We were living in Cornwall, at the time, and when a diagnosis (at least of they why I walked funny, not of the why behind the why, just yet) was found my mother, myself and my sister moved to Northern Ireland where one of Europe’s top orthopaedic hospitals (Musgrave) is based. My father had to stay and work out his notice so it was a major disruption to my parents lives … he basically retired early and separated (for a while) from my mother and us, so that I could get the best medical treatment possible. Now this was back in the late 80’s so there was no Skype, no mobile phones (at least not easily available) and as he worked in the military he wasn’t always at the end of a landline phone.

They put themselves through that separation from each other, and him from us especially, for me.

Thankfully it wasn’t for long, but that is at the end of the story.

Now I was living in a new country (again) and about to go to a strange school (again) but this time I had the combined issues of being noticeably different as I walked with a pronounced and prominent problem (tip of my toes) and had a very English accent in Northern Ireland. So, yes, the ‘attention’ was firmly on me especially as I was in the same year of school as my peers but I’d taken a few of my O levels / GCSEs early so didn’t have to do the same lessons as them, instead getting to sit in luxury of the sixth form ‘den’ and study on my own time.

English accent – weird feet – brainy – allowed to study on own.

Oh, yes, attention was great.

Anyway, I had some benefits too; we were living in my parents home town so I had some (probably a few hundred, it is Ireland after all) relatives at the school, including a couple of BIG cousins who did shelter me from some abuse (mostly by abusing others but, hey, that worked!) when they could.

After a relatively short wait I attended Musgrave and a specialist consultant there who tried some physio and special shoes (raised supports that were lowered a little to try to bring my heels down) but this proved ineffective pretty early on. During this time I had numerous, numerous tests and at one point my folks were told that the doctors knew what was wrong as they’d discovered a split in my spine: I had spina bifida occulta.

There was some shock at this as while a diagnosis – and a reason for the why my tendons hadn’t grown with the rest of me – was very welcome it is still very hard to hear words like that. It wasn’t for me, to be honest, because I didn’t fully understand what it meant; neither did my mother (my father still being in England at the time) but she knew enough to be scared of the name of the problem. Surgery was thought about, to fuse the spine, but this was discounted as not being necessary as my symptoms were pretty mild (other than the tendons) and the risks high. So the decision was made to operate and perform a two-fold surgery – release the tendons, slightly and then add something to elongate them (not quite the six million dollar man, but at least ten or so thousand dollar boy ;) ).

Then I died.

Sorry, I jumped ahead a little there, but this time not by much. First of all I had the surgery (which was a success from the perspective of what it was intended to do) but, during it, I suffered from malignant hyperpyrexia – my temperature went up, my heart and breathing increased, I was pumping out carbon dioxide to such an extent that Kyoto would’ve been interested, my muscles were cramping and becoming too rigid … and then I stopped.

I died.

Finally, I’ve got to the start of the story again. Simply put, from a clinical perspective, I died. Only a little, I suppose, and it didn’t take as they managed to get everything started again but, for a moment, I was dead.

Obviously they wanted to know why and, after a LOT more tests, including a muscle biopsy, it was discovered that I had what they referred to as a congenital muscular myopathy.

And that, my dear readers, was how I found out that I had a rare disease.

… the first time.

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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!

http://www.rarediseaseday.org/

@rarediseaseday #raredisease

2 thoughts on “In the beginning – a Rare Disease Day post

  1. My sister, Quillarene Baker Rice, nicknamed Renie, died at the age of forty-five due to the progression of a terminal respiratory disease. She was an attractive, vibrant and upbeat young woman seemingly with her entire life ahead of her. Little did she know that on July 15, 1998, doctors would diagnose her breathlessness and fatigue as Primary Pulmonary Hypertension, (PPH) and prescribed twenty-four hour oxygen therapy. Very little knowledge about PPH was available at that time. It is so rare and without a known cause, that statistically it occurs in about two persons per million each year.

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