Thursday, April 26, 2012

Personal Health and Genetics

In the past couple of months I have embarked on a journey of personal health consciousness.  Don't get me wrong.  I have always been somewhat conscious (hahaha).  But truly, I have always made a point, even as a teen, to eat healthfully, get enough rest, exercise, emote, etc.  I had promised myself that once I got into my 50's, in which I am firmly ensconced, that I would explore preventative health and family history.

My mom died at age 61 of ovarian cancer.  At 57 she was diagnosed with breast cancer, then ovarian cancer on the heels of her breast cancer treatment (first with surgery then radiation therapy).  At the time, I researched family history, asked my mom to get BRCA I & II testing, which she did.  She found that she had a variant which is suspicious but not indicated directly for cancer.  One of her aunts died at 50 of some type of abdominal cancer, and another of colon cancer at a young age.

I am the oldest of five siblings and have two daughters and nieces, so I feel that it falls to me to dig into this and share what I learn.

Most recently I was able to visit two experts in genetics at Memorial Sloan Kettering, a genetic counselor and the head of genetic research who is also a gynecologist.  This was very helpful. 
The short story is that even though my mom's genetic testing and variant was not clearly an indicator for either type of cancer, that the type of cells in her breast cancer were triple negative, an indicator for a genetic link.  Her ovarian cancer was high grade, another indicator.

What does this mean for me and my sisters?  We step up the screening process through mammograms, breast MRI, pelvic sonograms and CA125s at regular intervals.

I had also gotten the BRCA 1 & 2 testing.  I do not have my mom's variant, but after much evaluation, the counselor and doctor also recommend that I remove my ovaries and fallopian tubes.  I will have a very interesting story for this year's installation of what I did over my summer vacation.

But seriously, I am considering all of their advice.  I am speaking with a colleague of the folks at Sloan who does this surgery every day.  I am talking to trusted friends and family, and basically getting the lay of the land before I decide to do anything.  Will keep you posted.