Monday, August 21, 2017

Health Update with Genetic Testing Results

My genetic testing reveals no inherited mutations, deletions or alterations to BRCA 1, BRCA 2, or the PALB2 genes—yea!

However, I do have a misspelling of another gene possibly playing a role in colon cancer. At this time it is considered a variant with unknown significance. As time moves along and more people are tested, this variant may reveal a trend moving toward or away from its importance in causing colon cancer. For now, there is no need for me or my children to worry about it. (I already get CT scans as screening.) For my two sisters, it was recommended they have genetic testing or at least have a colonoscopy. (The prep for that is most unpleasant.) 

This Sunday, I will have treatment #56 of TDM-1 (Kadcyla). In May of this year, it was my three year anniversary of my relationship with this drug. I am always grateful to be able to have treatment and even more grateful that this treatment has continued to work for me, but I must confess I am feeling tired these days. And, although it can be quite funny sometimes, I have trouble finding the right words when I talk or worse say the wrong word and not realize it. I will blame it all on my treatments for now—though I have no evidence to support its effect on my brain. Other than that, life is pretty darn great.

Note:
"Lynch syndrome is an inherited condition that increases your risk of colon cancer and other cancers. Lynch syndrome has historically been known as hereditary nonpolyposis colorectal cancer (HNPCC)." see here .

6 comments:

  1. That's great news Lisa. I should probably go for the same test myself.

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    1. Yes, you should at least speak to a geneticist about it. No one wants to hear of a genetic link of cancer between parent and child, but I think it is information that is a must know.

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  2. You are such a great educator!!! No more kids at home to teach but you are still teaching ... us! xoxoxo

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    1. Thanks, Sandie. I guess once an educator always an educator. My youngest wept a few tears the first week. This second week has so far been a bit easier.

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  3. Interesting. I also have a VUS in NBN, and when I researched it I learned that it is suspected of being a familial cancer-predisposition syndrome. Since both parents and three grandparents died of cancer, that wouldn't surprise me in the least. I always wished I had children, but perhaps it's good that I did not, as I am the last of the line.
    I am glad that your treatments continue to work - may it long continue!
    Cathy S.

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    1. Cathy, thanks for sharing your information. I had not heard of VUS in NBN. More evidence of just how complicated the diseases called cancer are. I learned something new today. Thanks for that.

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