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.

"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 .