Testing, 1, 2, 3…

At cancer school a few weeks ago, I was introduced to a genetic counselor who helped me map my family disease-and-condition tree. I was whisked off to get blood work and sent on my way. MGH works with a third party to do the testing, so I received my results two weeks later. The test checked for eight different gene mutations. I was offered the choice of the 4-gene panel or the 8-gene panel, and since I am always looking to get a bang for my (insurance) buck, of course I went for the big one.

I always thought I was perfect. I mean, I know I am not. But I kind of thought I was pretty nearly whole, complete — perfect(ly fine). And I definitely always think — still — that I am right most of the time. Because I am. Statistics say that people who think they are right 100% of the time are actually WRONG 40% of the time but oh no, not me. I’m pretty perfectly fine and right most of the time. With almost everything.  As it turns out, I am rather imperfectly and very wrongly, the owner of a mutated gene, one of the great eight! It’s called PALB2.

You probably haven’t heard of it. They’ve only discovered it in the last few years. It’s like the Jan Brady of BRCA – kind of just as relevant but no one talks about it or invites it to gene parties. With this mutation I have (had) an up to a 58% chance of getting breast cancer, while all you (female) fools have only a 12% chance. I am such a SUCKER!

This mutation came from one of my parents, and my sisters and children have a 50/50 chance of having it too. My parents and sisters are being tested, and if they have it, they can make decisions about their health care in a much more informed, proactive way. Since I only found out about this little genetic shit sandwich AFTER being diagnosed, it gives me an explanation of sorts, for now, and gives my medical team some context on which to base their recommendation for go-forward care. SO really, its a win-win all around. It continues to be hilariously amazing to me how many profound silver linings are coming of this. I just spend ALL MY TIME laughing these days.

Not.

Don’t go anywhere yet! The real good news is that pathology came back. After they took all of my guts out during the mastectomy they sent it away to be analyzed. This analysis (for you cancer rookies!) tells us the extent to which the cancer has spread, how much of it was there in the breast, how big the tumors were, whether they got it all, etc. It gives us a STAGE. Everyone wants a stage, it’s a status thing I think. Like being in AP English or something.

The news — all cancer is out, clean margins around each area. They went in for TWO tumors in the left breast and it turns out there were THREE. The third was the same size as the larger of the other two (1.7 cm). This is pretty small, which is good news, but still really scary that two mammograms, an ultrasound and a biopsy didn’t catch it. The third tumor was just .7 cm but when you think of three all on one side… my poor boob didn’t stand a chance! One lymph node was seen on the ultrasound as cancerous so they took out 15 during surgery to be super careful, and thankfully just that one node was malignant.  So Stage 2, that means. The other side showed DCIS, but early, just a Stage 0, with no lymph node involvement.

All in all, this is the best news we could have asked for, other than, “whoops! We were wrong, that wasn’t cancer!”, which we knew wouldn’t happen. The bad news: I still have to undergo chemo and radiation. Since I’m just 40, this medical team has to keep me alive for another forty-plus years. If I were say, 70, maybe they wouldn’t suggest chemo but in my case, they want to be REALLY SURE there are no rogue cells gallivanting through my mutated-gene-infected self.

So, I still have to run the marathon. Except it’s going to be a flatter course, I’ll maybe be a little faster and it will probably be like 63 degrees and overcast (or whatever perfect marathon weather would be. I have no idea, because I hate running). But it’s still chemo, it’s still radiation. So, it will still suck. But at the end of it, I should be okay.

Here’s hoping.