My Little Bs Have the Big C

A Breast Cancer Blog For Young Women

Genetic Testing Results

6 Comments

I imagined it over and over again.  I would walk into the office, sit down as I tried to read her eyes.  To know the answer before she spoke.  She would open up her folder quietly, slowly but with firm purpose.  She would take a deep breath in and I would know before the words could come out of her mouth.  “The genetic tests have come back positive for BRCA.”  Tears would well up in my eyes but I would hold my crying in.  I would sit tall in my chair.  I would inform the genetic counselor and next, my oncologist, that this would mean nothing to me.  That I would find the scientist who was making breakthroughs in genetics, with BRCA.  He would be in Switzerland and we’d drink hot chocolate and hear the clocks tick as his experiment would work on me.  I would be the one who solved the problem for every BRCA positive woman going forward.  We would all get to keep our breasts and ovaries.

Mostly I imagined it this way.  I would walk into the office, sit down as I tried to read her eyes.  To know the answer before she spoke.  She would open up her folder quietly, slowly but with firm purpose.  She would take a deep breath in and I would know before the words could come out of her mouth.  “The genetic tests have come back positive for BRCA.”  My breath would stop.  The lump would swell in my throat.  I’d gasp for air and let out the most vicious and primal scream you ever heard.  People on the street would stop and wonder where the wailing came from.  I’d go to see my oncologist who, like Mary, Queen of Scots on her throne would, with a flick of a finger announce, “Off with her breast!”  And with one simple, violent signature with her pen, I’d be hauled off for a second mastectomy and to have my ovaries removed.  My sentence for the crime of having a genetic mutation, to be drawn and quartered.

But this did not happen.  To everyone’s surprise, including my own, the results for my genetic testing revealed that I do not have the BRCA gene mutation nor any gene mutation for that matter that is linked to breast cancer.  It was the answer I was hoping for but also one that I was dreading.

Of course I don’t want to be BRCA positive.  That would mean so many surgeries and changes to my body that I am not prepared for or want.  But there’s something happening in my family, something hidden in our genetic makeup that is being passed down generation after generation.  It is causing us to have breast cancer.  The mystery continues as to what that is and that is extremely frustrating.  But, for now at least, I get to keep my left breast and my ovaries.

One unusual thing that did come up (and I was told that this would never happen) is that I tested positive for a genetic mutation that is moderately linked to colon cancer.  Colon cancer?  No one in my family has gotten this!!!  What does that have to do with me?  What does it have to do with my breast cancer?  The answer is nothing and that is what’s so unusual.

Notice I said, “moderate risk.”  The general population at risk for getting colon cancer is about 5%.  This result just bumps me up to being 10%-15% at risk for developing the disease.  Chances are, it will never happen.  But I might want to start getting screened earlier, just in case.

For now, treatment is done.  I am just doing Herceptin for the clinical trial.  Until my reconstruction, no more surgeries, no more amputations, nothing.  I get to be whole.  I get to be whole.

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6 thoughts on “Genetic Testing Results

  1. That’s great news! So happy that you didn’t have live out either of those scenarios!

  2. You must feel so relieved about those results. I am very happy for you.

    I know what you mean about feeling frustrated about not getting answers about your family history of breast cancer, which is why I too, did the genetic sequencing test. I was positive for the ATM gene though which in a strange way gave me closure. (Not feeling happy that this gene is also linked to pancreatic cancer, but with a much lower risk than the bc.) The worst part about this gene is what it could do to my child if both me and my guy carry it (but no children yet).

    I did a colonoscopy after I finished treatments which is recommended. Test is pretty easy because you are asleep. Prep is the worst part.

    I believe there are certain tissues in our body that are similar. For example, colon, (the mouth of the) stomach, ovaries and breasts are made up of similar tissue which is why these cancers are linked. My gene didn’t show any connection with ovarian cancer although there is history of that in my family. Perhaps because of this same reason. Who knows!

    But I am glad you are clear of all of genes – less of a burden to deal with. xo

    • No one has mentioned a colonoscopy yet. I think I’ll wait on that one. I’m done with being fondled. I didn’t know that the tissue was similar, though. Ah, more research to do!

  3. I completely understand why you would want a break from all of this medical stuff. I think you’re fine. I had some major colon issues during chemo and maybe this is why it was recommended I do it.

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