Eine Kleine Nichtmusik

Witty and pertinent observations on matters of great significance OR Incoherent jottings on total irrelevancies OR Something else altogether OR All of the above

Sunday, November 03, 2013

Of pussycats and mousetraps, and of gene 14q32.1

I was reading an article in the Times last week about a recent clinical trial which appears to show that in all except the most aggressive cases of prostate cancer an operation makes no significant difference to length or quality of life. Actually, I should say no positive difference, as any surgery carries a risk, and removal of the prostate normally causes impotence. Here is a similar piece from the Independent.

What the Times piece mentioned and the Independent didn't is that even when the comparative risks are set out for patients with non-aggressive "pussycat" cancers, they usually opt for surgery if it's on offer. It seems that once the dreaded C-word has been spoken, most men can't face wandering about with something alien growing inside them even if it's doing them no harm for now.

All of which made me wonder how I would feel if there was a treatment available for Alpha-1 Antitrypsin Deficiency (A1AD). It's a genetic condition, so not strictly curable. It tends to go for either your liver (mostly in children) or your lungs (in adults). The former can be treated with a liver transplant: the latter, not so much. I have the condition, but am displaying no symptoms as yet (though my lung function is at the low end of the normal range). The medical profession has been keenly interested in why some people don't develop symptoms, and as far as the lack of liver damage is concerned all kinds of interesting work has been done (I'm reading a book on the subject on my Kindle right now: the snappily-titled Alpha-1 Antitrypsin Deficiency: Importance of Proteasomal and Autophagic Degradative Pathways in Disposal of Liver Disease-Associated Protein Aggregates, by David H Perlmutter). As far as lung damage is concerned, the situation is much simpler: if you're a smoker, you die. If not, not. It seems that tobacco smoke damages the small amount of antitrypsin that A1AD sufferers do manage to produce, and stops it working. Fortunately I gave up smoking altogether around 22 years ago: hence I live.

But in the same way that someone with a "pussycat" cancer feels himself to be wandering around with an alien passenger aboard, I feel I'm walking around with DNA that is trying to kill me by retaining in my liver the stuff that should stop my immune system eating my lungs. The facts that for now the small amount that escapes is doing its job satisfactorily, and that my liver's natural waste disposal (both proteasomal and autophagal, forsooth) is preventing the crap from accumulating and giving me liver cancer or cirrhosis, provide comfort but no security. Like Rocky in the Rocky Horror Show, I have the sword of Damocles hanging over my head. If someone could carry out an operation so that I knew for certain that I wasn't going to die in a few years' time wheezing on a 24x7 oxygen supply, I don't know what I'd want. I might well opt for surgery, which would be wrong on so many levels. At least with a condition which is neither curable nor treatable, where there's nothing to be done until your lungs start to pack in, there is truly no point in worrying. As Mehitabel used to say, toujours gai.


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