scarves and genes

Still very tired today. And she has reached the point now where she much prefers to wear the various head scarves and hats she has bought. She almost cut her own hair, but felt too weird about it so I told her to just put the scissors down. The kids also wanted no part of a hair-cutting party so I guess that is off. I think she looks great in the new digs. The kids, not so much. But I think that is mainly because it is a constant reminder to them that she will no longer be able to immediately satisfy every request and preference they might have. The only other option is the much less desirable Daddy, who is more apt to say "no" or "in a minute" or "after your vegetables" or "give me back my iPhone."

So anyway the last appointment we had on Thursday was with the genetics counselor, who was charged not so much with an examination (simple blood draw is all they need) as with an explanation. The counselor was great. After a cursory trip through genetics 101 she laid out Becca's entire family tree as had been reported to them earlier.

Genetics testing is not always done because it is expensive and tests for genes only present in 5-10% of women. However Becca has a few red flags that qualified her for the testing. We originally thought the biggest flags were the fact that her grandfather had the disease and that she is of Ashkenazi Jewish heritage. It turns out though that an even bigger flag is that she has this disease at the relatively young age of 40. I can testify to the fact that we do not see a lot of people our age when we go in for treatments.

There are these two "breast cancer genes" named BRCA1 and BRCA2 which are on chromosomes 17 & 13, respectively. And it really is a shame they are called breast cancer genes, because when the genes appear properly they actually fight tumor growth; it is only when there are mutations on the genes that the risk for breast cancer (and ovarian cancer) goes up dramatically.

So we test for them. Why? Well for Becca's immediate use, as mentioned before in this blog, it has implications for the amount of surgery her doctors will recommend and she will have to decide to undergo or not. The range is the whole nine yards: lumpectomy all the way to bilateral mastectomy, with many degrees in between. Also the ovaries might be on the list. Ovarian cancer can be much more dangerous because there is no lump you can feel and there is no way to test for it (other than imaging). Usually it is only caught at a very advanced stage. So if she's got the mutations the ovaries might have to go, too, as a preventative measure. Luckily we are done with those. As we've often said, when we had Sammy, he broke the mold. He's very good at breaking things.