The blog of photographer and musician, Kim Ayres

Genotype Compound Heterozygote

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You want to vivisect me???

“No, no, no, no, no. Venesect you, Mr Ayres. VENEsect. It’s a phlebotomy.”

I’m rather attached to my phlebs. What do you want to remove them for? Suppose I want to keep them?

“You misunderstand, Mr Ayres, Ve Vant your blood, mwahahahaha...

Pardon?

“I said we want to take some of your blood.”

What, for more tests?

“No, we need to bleed you.”

Ewwww. Is that where you cover me in leeches?

Sigh. We live in slightly more enlightened times these days, Mr Ayres. It is exactly the same process as giving blood, only it’s done deliberately to make sure your body releases some of the excess iron it has stored in your body. Leeches might do the job, but they are a bit of a plitter; a syringe is much simpler.”



It turns out I might have haemochromatosis (or hemochromatosis to you lot across the Atlantic who shun the “ae” spellings in words). With luck, this is the cause of my symptoms rather than the current vague diagnosis of Chronic Fatigue Syndrome. Although we also have to hope the luck holds out that it’s been caught early enough not to cause any major liver damage.

Haemochromatosis is a condition whereby the body absorbs too much iron, which if left unchecked can cause a great deal of damage to various organs. It’s not something usually picked up by your local GP, but almost by accident some of my blood got checked by a specialist who identified that I carry 2 mutant genes, thereby giving me a Genotype Compound Heterozygote.

This doesn’t mean I definitely have it as I might just be a carrier. But I now have an appointment with the blood specialists in a couple of weeks who are apparently thrilled at getting their hands on someone with a Genotype Compound Heterozygote as it’s not that common.

When I first heard about my Mutant Genes, I wondered if it would give me superhuman powers, like Magneto in X-Men. Perhaps I’d be able to raise up the Forth Bridge and threaten to drop it on the Scottish Parliament if they don’t crack down on Mazda garages in Dumfries saying you need 2 new tyres when actually there’s nothing wrong with them and they’re just trying to con you into spending more money on your 50,000 mile service.

Unfortunately this has turned out to be idle fantasy. The only likely superpower I might have is if I crap in a puddle my stool will face magnetic north.

Great trick if you’re ever lost in the wilderness, you might think, but too much iron is also associated with constipation, so I’d only be able to check my bearings every 3 or 4 days.

In the meantime, until I see the specialists, they have told my GP I might benefit from a bit of venesection, so on Wednesday I will come out of the health centre ½ a litre lighter.

Wonder if it will help with weight loss…
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20 comments

Eryl Shields said...

I always knew there was more to you than meets the eye. You're Iron Man.

Fingers crossed that your organs have remained unscathed and that this is you on the way to being sorted.

You could breed your own leeches and apply them as necessary.

debra said...

Thanks for adapting the spelling for those of us on this side of the Pond, Kim :-)
I wish you speedy answers. If you do have it, could you automatically enter the Iron Man event?

Sayre said...

I have actually heard of this! And there's another one where too much copper is stored.

Wouldn't it be wonderful if they actually discovered that this was the problem? Then they could set about helping you with it rather than having this vague shrugging continue.

And I do apologize for laughing at your "predicament", but you write about it in a way that actually made me guffaw....

Anna van Schurman said...

You're a mutant! It's okay, my sister is a medical oddity (benign spindle cells). I hope this bleeding thing helps. (Throw away the cast iron skillets.)

Actually here at the old medical center in Philadelphia, we're rather attached to spelling orthopaedics with the "ae."

savannah said...

i hope this is the answer, sugar, but i do have to admit, sayre is right! your writing was hilarious - i had to read it out loud to the MITM as he was wondering why i was literally LOL!xoxoox

(i do like the idea that i know the iron man!)

michael greenwell said...

i was once in a country with plenty of leeches.

most of the time they have been and gone without you even noticing.

seriously though, i hope you get whatever result you want from it.

Kate said...

I was wondering about super powers too. Sorry to hear you won't have any, but keeping my fingers crossed that this will be the answer to your problems!

Carole said...

Okay, this did make me laugh, but I think having mutant genes would give you a bit of bragging rights down at the pub. It would be awesome if you could fine the actual cause of your symptoms, but if you do, please keep it quiet. It is much easier to say CFS than genotype compound heterozygote.

But maybe that's just me.

Fat Lazy Guy said...

Dang. I wonder if that would mean you'd explode if you had an MRI?

Hope the draining does something man :)

Sandy said...

You should always worry when you're bitten by a spider at an impressionable age, you haven't been caught in a nuclear explosion recently or involved in a laboratory accident - I've seen the films, I know how these things happen. Actually for me mutant genes are Levos or Wanglers (and probably made in the far east).
Shame about the leachs - admit it, it would have made a good blog. Hope it all works well and you can go back to recreational afternoon naps rather than them being utterly essential.
Sandy

Rogan said...

My Dad's a mutant!?

Aaaaarrrggghhhhh!!!

Kim Ayres said...

Eryl - Hmmm, leech breeding. I could give them their own blog...

Debra - nah, I think I'd be too rusty (ba-dum tish)

Sayre - why on earth should you apologise? I'd have felt a failure if you hadn't at least smirked.

Anna - didn't that used to be "Philaedaelphea"?

Savannah - being read out loud to someone else is pretty much the highest praise a blogger can get - thank you :)

Michael - maybe if the global warming continues apace we'll eventually get the climate in Scotland ideal for wild leeches

Kate - nope, I've not even been able to magnetically pick up a drawing pin, unless I jab it into my finger first...

Carole - I keep practicing how to say "genotype compound heterozygote". I find it most effective if I can adopt a Dr Kildare accent

FLG - I wonder if Dr Doom ever had a problem with MRI scanners?

Sandy - mmMMMmmm, recreational naps... mmMMMmzzzzzzz...

Rogan - it could be hereditary, son. Time for us to rearrange the bathroom so the toilet is on a North-South alignment.

Ubergeek said...

I wish you the best of luck. It might actually be a good thing if this is the diagnosis, since the treatment is pretty easy (weekly bleedings...you can donate to save lives, too), and not having to take drugs for the rest of your life is a definite plus.

With all you've been through, this sounds like one more "we might have it", and I'm a bit skeptical to raise my hopes. You have the genotype, but does that mean you have the phenotype?

Again, I wish you the best of luck, and most importantly, the answers to your questions so that you may feel better.

(as fun trivia, did you know that women typically fair better with this disease, as they have monthly "blood lettings" for a major part of their lives, which helps control iron deposition....they typically become symptomatic only after menopause)

Kim Ayres said...

Ubergeek - I'm still trying to figure out what a genotype is, and now you introduce "phenotype"?

Ah well, I get to see the blood specialists in the next week or 2, so I'm starting to make a list of questions.

Oddly enough, when I asked my GP about my blood being used to save lives he said the blood service won't take it. Not sure why - another question for the specialist

Conan Drumm said...

Kim, I know folks with this, and yes it's a hereditary condition. It has a curious geographical basis in Ireland, something to do with the gene pool being isolated, I think. Anyway, the very best of luck with it, if that is what it is. I believe it's easily managed but you have to monitor it and look out for associated conditions/effects.

PI said...

Some progress then. That has to be good. I can't find venesection anywhere. Google asked me if I meant vivesection which you clearly didn't.
Are they able to re-use your blood? Or would it give someone else the problem? Or could they store it in case you become anaemic. So many questions. Your fault:)

Ubergeek said...

Genotype = what your genes say

Phenotype = what you look like

Basically, you've got 2 copies of each gene - one from mom and one from dad. What you look like depends on which is dominant and which is recessive (actually, there are tons more factors going on here, but this is the simplified version, because I don't think comments will get long enough to explain the whole story). Take eye color. Blue eyes are recessive. So if you inherit a "blue" gene from your mom, and a "brown" gene from your dad, your genotype (genes) are "blue/brown" but your phenotype (how you look) is "brown".

Damn doctors and their silly language.

As far as I've been taught, as long as you don't have any communicable diseases, your blood can be reused. There is no problem with your blood, per se, it's just that you're making too much of it. But, maybe the rules over there are different, especially if there are excessive concerns over blood-borne pathogens. So yes, ask the specialist.

And again, the best of luck.

Kim Ayres said...

Conan - I have very little idea where my genetic roots are based. I did here some vague rumour that one of my great great grandfathers was from Ireland, but he was some kind of dodgy character who changed his name and became a pub landlord.

Pat - when I asked if they could reuse my blood I was told they didn't. I'm seeing a specialist next week, so will ask.

Ubergeek - aha, I am enlightend! Thank you :)

Charlie said...

During the reign of Alfred the Great, the only "doctors" were specially-trained monks from the local monastery (a year at Cambridge). They did not use leeches (even back then the barber did), but rather applied a poultice to the chest comprised of herbs and fresh horse dung.

It might not hurt to have this information as a backup plan, Plan B as it were . . .

So, is æ the 27th letter in your alphabet?

Kim Ayres said...

It's the 28th. Comes right after œ

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