Monday, October 7, 2013

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?

32 comments:

  1. What a relief that your Mom tested negative. I didn't realize until reading this post how vigilant you and your sisters and children have to be given the genetic background. You are brave to face this so stalwartly, setting a great example for your daughters. And you are brave to write about it so the rest of us can raise our awareness of what it is like living with high-risk of breast cancer.

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    1. I know! Relief. I'm not particularly stalwart, I have to say. Nor brave. I think, as one must, I'm just muddling through with a challenging time. Some days I'm not very clear-headed :-)

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  2. That's wonderful news! It's amazing how much more information there is available about risks and options.
    One thing that has been an advance in the treatment of breast cancer (and cancers in general) is that they can be sent away for genotyping over and above the 'standard' mutations. The lab can cross reference that particular tumour's code with studies of different treatments to try and come up with something that is not only effective, but has fewer side effects. It's my hope that when I get cancer the database will be so wide ranging that there will be lots of treatments options available.
    (My FIL's wife has had a breast and kidney tumour this year - both were unrelated to the other. The gene lab in California is very interested in how she responds to treatment. And she's pleased that she's helping other people going forward).

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    1. I love this comment - thank you for the really good info. And, in light of the fact that it's likely most of us will eventually get cancer - even if it's when we're in our 90s, I find your wording on the subject refreshing! It's important to really understand that cancer is complex and that not all cancer is "Cancer" (though all of it is serious and a call to attention and the access to the best medical attention possible). Time was, no one talked about these things. Hell, in our family, cancer was rarely discussed cuz, um, who wants to talk about it. Really, people need to talk! So thank you.

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  3. YAY! (insert Kermit!flail gif here)

    Excellent news for everyone.

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  4. Only one: this is wonderful news for your family. Whew.

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  5. That's terrific news. I've good genes on my side...but your post certainly opens my eyes to risks and possibilities. Thanks for that. Hope your Mom continues to work through her treatment as easily as possible. I'll keep her (and family) in my prayers.

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    1. Ah, good genes. Gotta love them! Thanks for continuing to give us your good thoughts Jodie.

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  6. Congratulations on the test result. Whew! And, I am having a friend that is trying reconstruction after cancer with the flap surgery you reference and it has been unsuccessful three times! Yikes! This is her third, and we think her last (and finally successful) so she can go on to the second surgery for reconstruction. I'm so happy for your. We all need to be vigilant. I don't have BC in my family, but I probably need to amp it up a bit. I could see you rolling with the punches either way!

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    1. I've actually heard about a few tram flap surgeries that have been challenging. I'm not suggesting that it isn't a great idea for some people - those with strong abs and tone who have a good exercise regimen. Those who don't scar badly or get keloids. And sometimes, the transplant (which is sort of what it is) doesn't take. It's not as easy as "new boobs and tummy tuck" which is what I was inclined to believe :-)

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  7. You are the second person *and sewist* in a month to say to me that this adult shit is ridiculous. It is, isn't it!?!?!

    I'm so happy that you got this good news. What difficult decisions!

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    1. Wow - that's a bad sign :-) Or a good one - who can say? Thanks for well wishes, T.

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  8. What a relief! There are still tough times ahead, but the news are still wonderful! I admire how brave you are facing your mother illness and wish her to be lucky all the way.

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    1. Really, I'm not brave. I'm just loud :-)

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  9. I'm very relieved for you and your family that the test was negative. One less thing to worry about in this stressful time.

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    1. Thank Gail. It is one less thing to worry about. xo

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  10. Glad the tests were negative! the other thing about mammograms is they dont work too well on younger denser breast tissue either. I work in radiotherapy so if you have any niggling questions im more than happy to answer!

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    1. Emmie: Thank you so much for this kind offer which I may take you up on as I go to see my doctor and learn more. MRIs in Canada are not easy to come by. We have limited resources and people don't pay for health care onsite (we pay in our taxes and the system is one tiered). It means that, though I will receive a letter from US doctors advising about optimal healthcare, I will likely need to negotiate that here. I have an excellent doctor who, I'm sure, will do what she can to ensure that I get the right preventative testing. But different countries have different philosophies and resources. It's going to be interesting to navigate this next step.

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  11. Good news! I appreciate all the information. I'm fortunate to have good genes (as far as I know so far), but have friends who appreciate your information. Stay vigilant!

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    1. Glad to hear that this has been useful!

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  12. Brilliant. Just marvellous news. For all of you.

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    1. I know. Gotta say I am very relieved. Thanks Evie.

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  13. Firstly, what wonderful news!
    I also wanted to say thank you for talking about this even though at times you may have been apprehensive, scared or worried. Talking helps but more importantly, you have inspired & educated & for that, there is no thanks big enough.
    Wishing you all further good health.

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    1. Thank you so much for this lovely comment. If these posts (selfishly motivated, I must admit) have helped to give some useful information to others, that is awesome. xo

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