Tuesday, 13 May 2008

A Bone to pick

Just so you can know me a bit better, I wanted to tell you a little bit about the condition I have that messes my life up quite a lot these days.

Osteogenesis Imperfecta (OI) is the medical term for a specific group of disorders primarily affecting bones. It is characterised by bones that are fragile and easily broken, but can also be responsibe for other, related, problems. There are a number of different types of OI and they vary greatly in their severity. There is no cure so it needs to be diagnosed as early as possible - Woops! Ah well, there you go!

The cause if “imperfections” in bone formation is mutation of type 1 collagen. This is the the major protein in bones and also provides strength and structure to other tissues, including skin and muscle. It is NOT caused by lack of Calcium.

In most cases OI is caused by a dominant gene defect, which means that only one “copy” (mum's or dad's) of the affected gene needs to be passed on for the condition to be inherited. In other cases, though, children are born with OI even though there is no family history of it. This is known as “spontaneous mutation” - and that’s me - I’m a Mutant!!

Spontaneous or inherited, though, OI-ers have a 50% chance of passing it on to their offspring. Big question for potential parents among us is: do we or don’t we? I didn’t.

There are many common characteristics of OI, in addition to fragile bones: bone deformity, loose joints, triangular face - bang went my modelling career - , curvature of the spine, brittle teeth - I once broke 2 teeth on a Fruit Gum - and a blue tinge to the whites of the eyes - which does not go well with brown eyes, let me tell you.
I just thought I would share those little pearls with you…………….WAKE UP AT THE BACK!

I've also been diagnosed just last year with basilar invagination, a further nuisance complication of OI. Basically it means that my cervical spine goes too far up into the back of my head so I have only a very short neck - in fact, not much of one at all. My balance is very poor because of it so I have to spend most of my time in a wheelchair if I'm outside.

Anyhow, there you are, that's a bit of me. I promise I won't go on about it. Well not much anyway.

Talking of things medical, the list of things you can’t eat grows almost by the minute. If you’re preggy you can’t have tea, coffee, booze or fags, tap water, brie and camembert or milk straight from the cow etc. If you’re old (though no-one seems to know when ‘old’ starts), most of the above PLUS don’t cook in aluminium pans. We should stop using salt and only eat hard cooked eggs and well-done meat - no more of your "bloody beef steaks"!
We should apparently now question the wisdom of using low energy light bulbs as they contain (a minute amount of) mercury, which is BAD FOR US!! Ordinary thermometers like we used to stick under our tongues or under our arms are banned for the same reason. Hands up if you ever knew anyone who died of it?
Until next time,
Angie, xxx


Kath said...

I hope this comment is accepted .Grrrrrrrr Kath xxxxx

Kath said...

Ahhh at last it seems they have woken up.I think it's them who you should ask "Can you all hear me at the back LOL!!Well I think I know enough about you now Angie LOL!!Your still fabulous Heeeeee.Catch you again soon .Bye for now Take Care God Bless Kath xxxxxxxxx

Raquel said...

Angie, you are a jewel!! I have added you onto my favorites. OI is quite a disease, I am a medical transcriptionist by trade, and I do type a bit for a clinic that works with gene mutations, mostly for sickle cell tho. I think the whole solution to not eating anything that is bad for you: If it tastes good - spit it out, gotta be bad! Take care, Raquel xo

Marie said...

You forgot to say you are a most loveable Mutant!!! I think we're all mutants to some degree, just some of our mutations are little a bit easier to discern than others! Our hearts are intact and that's what counts! XXOO Glad to see Raquel made her way here! And Kath, stop creating so much lovely noise in the back!! haha, good to be amongst friends! (((hugs)))

Marie said...

PS. Spitting the bad stuff out still means you get to taste it...and I do love a good taste!