Saturday, 21 May 2005

Things You Don't Want To Hear Your Doctor Say

"You know that you have an appointment in 4 hours time? Well I'd like to see you for an extended time, and absolutely as soon as possible."
That was at 0900 on Friday.
"In my entire career specialising in this area, I've never seen blood test results like this before. I've searched the literature, and it appears no-one else has either."
That was just after 1230.

Always knew I was a mutant. Quite literally, and had the proof for about 10 years.

Fortunately, the news was good. The last time something like this happened, about ten years ago, my Chlesterol count indicated I had the mutation for Familial Hypercholesterolemia (FH). Well, not so much indicated as jumped up and down blowing a whistle, waving a flag, and letting off pyrotechnics. Using Australian standard units, where 95% of the population has levels ranging from 5.5 (go on a diet) to 3.5 (healthy living and you're naturally non-fatty), and where 6.5 or so is only achievable by a (considerably shortened) lifetime of eating supersized fatty fast food, mine was 11.5.

That's about 450 is the US units. 600 has been recorded (rarely) amongst people with the heterozygotic (1 copy) form of the mutation, and nearly double that for homozygotes (2 copies). But those unfortunates are all dead by 30, and often are dead before age 10.

The protective HDC (High Density Cholesterol) that helps against heart attacks was below normal too, and this has not changed over the intervening period.

"Probably dead before 40" is not the type of thing you want to hear at age 37 (or at any other age, for that matter).

Diet and exercise had taken it down to just under 7, but the medications of 10 years ago had no effect. The best I could have hoped for was a reduction to 4.5, and with the damage already done, no plaque would be removed from my arteries, it just wouldn't be growing at such a dangerous rate.

Anyway, the cholesterol level in my blood was starting to edge up again with age, so the doctor tried a new medication at just above the minimum recommended dose, half the full dose, and yet another blood test.

Cutting to the chase... the result this time was an astonishing 2.2 (about 80 in US units). This is possibly dangerous the other way, too low, and is inexplicable. The medication just plain can't do that, even at ridiculously high dosages, several packets per hour.

Yes, they'd repeated the out-of-tolerance assays, and still got the same results.

I may not be heading for a heart attack any minute after all, an event I've been resigned to having occur sooner rather then later for about 10 years. I still have the family history of FH, even have a few cholesterol deposits around my eyelids (Xanthelasmas) like my mother and maternal aunts and uncles, but also have a really screwy metabolism. Not The Average Mutant.

Might be my claim to fame, "Patient X" in a medical research paper.

Just about all the rest (about a hundred measurements) was within 1 standard deviation of the norm, except for one section, whose results were just plain weird, but which would account for the symptoms I'd originally presented with. Some of the possibilities are so totally bizarre I might discuss them in a later article, showing that if you peek in musty old medical volumes, you'll find the Human Species can vary in ways sometimes comical, sometimes tragic, but always fascinating. Get less probable than 1 in 100,000, and things can get quite strange.

We're all eagerly awaiting the results of my Chromosome Analysis to find out just exactly what outrageous combination of mutations I may have. In the meantime, I'm getting yet more blood tests done regularly, concentrating on the weird areas, to see if there's any cyclical variation over time. This is quite common, women have oestrodiol (Female sex hormone) variations on a monthly cycle, for example.

Things are going to be very interesting for awhile. Apart from the human pincushion effect from the tests, the most disquietening thing is that my eyes have changed colour since the 4th of May, from a homogenous dark brown to light brown shading to green, with pronounced rings. Something that usually only happens in adolesence. I wasn't aware of it until the doctor noted that my eyes had changed since the last visit, but now it's unmistakeable.

But now would be an excellent time to thank readers for their generousity. I'd no sooner hinted at having some medical problems than my tip jar started overflowing. Some of the donations were quite substantial, and all of my out-of-pocket medical expenses so far have been covered by them.

It seems the most abundant substance in my readers is one thing the blood tests had no assay for : the milk of Human Kindness. It makes me proud to be genetically associated, however distantly, with such a noble species. Thanks.


Mark Tempest said...

We are all unique. You seem to be a little uniquer.

Best wishes!

Zoe Brain said...

From a distance nearly 4 years later... I already knew in one sense what was happening. I wasn't ready to blog about it, though I dropped some pretty unsubtle hints.

The one section that was just plain weird was of course the androgen series, the sex hormones. They indicated I had a female hormone balance now. And the "symptoms I originally presented with" were a Gender Identity Crisis.

I wasn't certain whether the changes would continue, or reverse. I was certain that I couldn't go back though, and was just trying to come to terms with this.