Shrodinger Again

If you haven't been here in a while READ THIS FIRST and proceed with that post in mind. Thanks.

-=-

So.

Appointment tomorrow. I haven't been getting much sleep. Those who know me IRL would not think that out of the ordinary at all, since I do some of my best work (and cooking) at 3 AM. And, yes, some of those sleepless nights could be attributed to deadlines and whatnot. But my mind's also been turning this cancer-risk thing over and over and over, looking for a trapdoor exit.

See, I'm afraid that they won't let me get tested.

Here's the reasoning: There are three (very general) possible genetic scenarios at play. Scenario 1: One or both parents have a BRCA mutation; I test positive for that mutation; I'm considered high-risk for the nasty sorts of rapidly advancing cancers that come with it. Scenario 2: One or both parents have a BRCA mutation; I test negative for that mutation; woo-hoo I've dodged the bullet and con probably be considered about normal-risk. Scenario 3: Neither parent had a known BRCA mutation; I test negative for known mutations; it is entirely possible that I inherited some other genetic predisposition to cancer nastiness and therefore I'm high-risk anyway.

If you clicked on the scenario links, you probably noticed that 2 and 3 led to the same question. And if you've been paying attention in class, you probably noticed that I have not said anything about whether my parents ever had any BRCA testing.

That's because they didn't.

My mom gets a pass on this one. She was diagnosed with ovarian cancer in 1993 and died in 1994. The BRCA1 mutation was not isolated until 1994, and its relatively high presence in the Ashkenazi Jewish population was not discovered (or made public, at least) until 1995 (also the year that BRCA2 was isolated).

My father probably also gets a pass, though a good doctor who was familiar with genetic cancer risk screening and had full knowledge of the family tree and medical history probably shoudl have suggested testing. Sister with breast cancer + pancreatic cancer as potential manifestation of BRCA2 mutation + two daughters who'd benefit from this information = probable screening recommendation. The problem is that my father was so secretive and cagey about, well, everything that I doubt there was ever any medical professional who actually knew all of those facts. And I don't think it ever would have occurred to my dad to consider testing; setting aside his overblown ego and machissmo, he probably had no idea about the pancreatic cancer/BRCA2 connection. I certainly didn't until a few months ago.

The cousin who helped me piece together our (paternal) family medical history does not know whether our aunt with breast cancer had BRCA screening, and it is unlikely that we will find out. I suspect she did not.

So it all boils down to two possible scenarios for me if I get tested. Positive? High risk for BRCA1- or BRCA2-specific nasty cancers. Negative? Considered high risk for ovarian, breast, and related cancers at least, because there could be some other genetic compenent and I have PCOS besides. I mean, sure, I guess I could be negative with two positive parents, dodging a major bullet, but we'll never know. So they may recommend against testing, but for some unidentifiable reason, that just makes me very nervous.

I don't know why. Shrodinger's cat is dead either way.