The Genetic Lottery

Today's good news wends its way to you today via North Carolina: My mother tested negative for the BRCA 1 and 2 gene mutations. 

 

Lord, that's merciful.

The first reason it's wonderful is that my mum will not have to consider prophylactic bi-lateral mastectomy and the removal of her reproductive organs (these are the areas most likely to be affected if one has the gene mutations). It will mean that she has to have radiation - which would not have been necessary after a double mastectomy. To my mind, that's the less invasive path.

The other reason it's wonderful is that it means my sister and I will not need to be tested (there is no reason to believe that my father is a carrier of the mutations). The statistical risk is on my mother's side and, if she doesn't have the gene mutation(s) to pass along to us, then we are exceedingly unlikely to have either.

I can only speak for myself - and talk is cheap - but had I discovered I was a carrier of either mutation, my intention was to have both a bi-lateral mastectomy and a full hysterectomy. Let me say, neither is high on my list of elective surgeries.

Of course, this is a decision that every woman must make for herself (if, regrettably, she is put in the position) and every path is right for someone. But the idea of declining surgery, thereby chancing contraction of reproductive or breast cancer in the range of the 80th percentile, just would not work for me. With that knowledge, I'd have had to act. It only adds ballast that, when I asked my mother's oncologist what she would do were she to discover that she had the gene mutation(s) (and she was extremely measured throughout our 2.5 hr appt.) her immediate response was: I would not walk out of the doctor's office without an appointment with a surgeon. Sure, she has a particular perspective on life and on cancer. But her philosophy, in this respect, strongly resonates with mine. 

Small sidebar: I'm still not sure where I stand, theoretically, on the issue of breast reconstruction - and I continue to speak only for myself, of course! When first I started doing research, I was in favour of tram flap reconstruction. But I've read that it can take a real toll on your abdominal muscles, apparently, and increases body scarring (as you then have scars on abs and ass in addition to breasts). Don't know what I think of that, on balance. Or the many additional surgeries required. I know I wouldn't do implants (saline or silicone). I have always been freaked out by the idea of putting something plastic into my body. It makes me squeamish. Faced with the hideous decision, I might actually opt to channel my inner Patti Smith. Which would be some irony, I realize, for a woman who LOVES bras as I do and who, let's face it, is pretty identifiable as that girl with the breasts.

Look, I'm no idiot. The likelihood, based on numerous factors, is that my mother's cancer is somewhat genetically motivated (though presumably not to the same detrimental extent as the BRCA gene mutations). It's telling that 2 sisters have had the same rare kind of cancer in the same exact spot (which is not an area where breast cancer generally occurs). This means I have to be vigilant. My sister has to be vigilant. Our combined children (all girls) will have to be vigilant. (BTW: My sister and I were no slouches before my mother's diagnosis, btw. But now we've got to amp it up still further.) Oh well. There's another loss of innocence. (This adult shit is ridiculous.)

Fortuitously, now we, and our children (once they're in their 20s) will likely have access to regular breast MRIs and ultrasounds. Though the radiation level produced by mammograms is low, it's significant for women, those who may be prone to breast cancer, who are having them yearly. MRIs are more likely to detect issues early in high-risk women, though of course they bring other challenges (like higher rates of false readings requiring unnecessary biopsies). You know, I'll take that, given the alternative.

Just call me extremely grateful but not taking anything for granted.

Thoughts or feelings?