Thursday, February 6, 2014

My Kids are Half Czech, Now I'm CHEK 2

I reported awhile back that genetic testing showed I do not have mutated BRCA1 or BRCA2 genes. These are the biggest known genetic culprits in breast cancer. However, further genetic testing has revealed that I do possess a mutation in my CHEK2 gene which is another known culprit in breast cancer for women, prostate cancer in men, as well as cancer of the colon, thyroid, ovaries, lung and kidneys. Having the mutated gene alone gives women a 30% risk that they will experience breast cancer in their lifetime. When breast cancer runs strongly in the family line, the risk increases to 40%. The genetics counselor feels this gene most likely was passed through the Slater side of my family since two of my aunts on that side had breast cancer and my father had thyroid cancer, but that cannot be confirmed without testing someone else in the line.

I, by no means, want to frighten the family, but it is important to know this mutation means diligence may be in order. I don't want anyone to have to go through this, so please be sure to get those annual screenings. Ladies, mash around on those ta-tas monthly! Men get that prostate checked out. Everyone, get those colons scoped as recommended by your doctor. My cancer developed so quickly that it reached an advanced stage between annual mammograms. The CHEK2 gene, when working properly, suppresses tumors by keeping rapidly diving cells in check and makes sure they die off as ordered. The discovery of my ill-working gene may be the key to finding out why this cancer developed so quickly and so aggressively. Having this information is like wielding a double-edged sword, especially having two beautiful daughters whom I very much want to protect from this awful disease. It gives me some potential answers, but is not the most promising news for my descendants. However, I like to think this will give them a good reason to start screening early and stay diligent always.

If you would like to read more about the CHEK2 gene, here are a few sources:

http://ghr.nlm.nih.gov/gene/CHEK2

http://www.ambrygen.com/tests/chek2-related-cancer

http://www.cancer.gov/cancertopics/genetics/breast/CHEK2gene

On  to other topics! I've told you all about my amazing medical oncologist Dr. Doug Flora. One of the local news stations featured a story about him before I became one of his patients. It took me awhile to unearth the clip, but here it is:

http://www.local12.com/news/features/medical-edge/stories/cancer-doctor-says-hes-inspired-patients-164.shtml?wap=0#.UvFpzni9K0c

I hope you enjoy "meeting" my doc!

I can barely believe my mom will be here in 6 short days! She is coming to help me through my last chemo, my upcoming surgery, and on through to radiation. I hope she can adjust to the cold of this never-ending winter we are having. The kids are beyond excited to get to spend so much time with their Gram. I'm super pumped, too!

One more chemo to go on February 17, y'all!!! Here's sending some extra special thoughts to my Uncle Jim who started chemo today for his bladder cancer. Now we can be chemo buddies! Love you, Uncle Jim!

FYI, for those who don't know me as well, you may be wondering about the title for this post. My husbands' side of the family is of pure Czechoslovakian decent which makes my kids half Czechs, or Tex Czechs to be more specific!





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