Sometimes genetics are just no fun :(

Disclaimer #1:
For the few of you men out there who read this…if you don’t like the mention of the words ovary or breast, you might want to skip this post. Sorry, but being up front right from the start.


Disclaimer #2:
This post is long but important to read if you have a family history of breast and/or ovarian cancer. Sorry, it’s not the most uplifting subject but it’s important nonetheless.



A year ago, a cousin of mine I’ll refer to as “F” had the BRCA analysis done. For those of you who have not heard of this, a BRCA analysis is a relatively simple, one vial, albeit expensive blood test, to see if a person carries a hereditary gene called BRCA1 or BRCA2. Hereditary cancers make up only 12-15% of breast and ovarian cancer, the other 85% is called sporadic(no heredity involved). However out of that 12-15%, if you carry one of the BRCA genes, your risk of getting breast cancer increases to 85% and ovarian cancer 45%.

The BRCA test along with a family history of early or young (50’s or younger) onset of this disease determines if a person is at high risk. Let’s just say my family medical history is loaded! My great grandmother was 41 when she died of breast and ovarian. My sister was diagnosed with breast cancer at 48, a cousin with breast in her early 40’s, another with ovarian cousin in her 50’s, yet another cousin in her 50’s with fallopian tube, an aunt with ovarian in her mid 40’s, an aunt with breast and my mother with uterine in their 50’s, etc. See the heritage? I’ve always had the belief of not “if” I get cancer, but a matter of “when” I get cancer and have accepted that as a reality. Three years ago I was diagnosed with thyroid cancer which is not related to breast or ovarian but the realization that my body can and will grow the crap was brought home to me.


My cousin, “F” and her son, “S” both tested positive for the BRCA 1 gene. A year ago, after their testing, “F” sent out a letter telling others of us in the family about their positive results. At the time I received the letter, I promptly and ignorantly filed it away, thinking what would I do with the results if I was tested anyway? (I guess I didn’t read it very close so didn’t realize it also tested for ovarian cancer and not just breast.) My thought was that I do everything I can already (regular exams and mammograms) to check for breast cancer so what good would that information do me. It more than likely would just be an added stress and worry, so why deal with that, right? File it away…outta sight…outta mind.


In October, a friend who is currently going through treatment for breast cancer invited me to a Breast Cancer Awareness seminar. The lead speaker talked about genetics and the BRCA testing. During this seminar I learned the BRCA test also includes ovarian cancer. I had a hysterectomy almost ten years ago but they left the ovaries since I was young and they didn’t want to throw me into menopause. This has always been a concern of mine as ovarian cancer is typically fairly symptomless and goes undetected until it’s in the advanced stages. My gyne has wanted to do an ovarian ultrasound in the past but insurance wouldn’t cover it as it wasn’t “medically necessary.”


After much thought and prayer, I talked with my gyne who recommended a doctor who specializes in genetics at a local hospital. I called and set up an appointment with his genetic counselor. She told me what steps I needed to take to see if my insurance would cover this test. She also said most insurance companies now cover the cost. Lo and behold, my company will! So since they will cover the cost what am I out, right? I made an appointment which was last week and spent nearly 3 hours with the counselor and an oncologist RN learning all about gene make-up and what this test could show.


If a person has one or more first degree relatives with the gene, a person has a 50/50 chance of carrying the gene as well. If I test positive which frankly, I’ll be surprised if I don’t, there is a 50/50 chance that it’s been passed on to my sons and they in turn have a 50/50 chance of passing it along to their children. Yes, males can also carry the gene. Obviously they won’t get ovarian cancer, but can get, albeit rare, breast cancer. This gene can also surface in males as prostrate or colon cancer.

I went ahead with the blood test which takes four weeks to get the results. I go back on January 21st and meet with the counselor, RN and doctor to get my results and develop a possible care plan.


A question you say? If I test positive, what good will this information be to me?


In my case, step one would more than likely lead to the removal of my ovaries, which I’m perfectly fine with. Menopause has already begun. Not using them anyway, so get rid of them I say.
This procedure is called an oopherectomy(sp). Now, doesn’t that sound like something out of “Who-ville”???


The nurse also said most insurance companies will cover this now too if I am BRCA 1 positive and with my family history. She said insurance companies have decided it’s much more cost effective to pay for a surgery or two than rounds of chemotherapy and radiation.


They will also monitor my breasts much more closely. Instead of doing a regular mammogram, it will more than likely be an MRI of the breasts instead. Some women have even went as radical as a double mastectomy with reconstruction. I’m not quite sure where I stand on that yet. I guess I’ll cross that bridge when I come to it.

If I test positive for the BRCA1 gene and have my ovaries removed, it lessens the chance of me getting breast cancer by 45%! If I would go through with the double mastectomy (again, no decision on this one yet), it lessens the chance of breast cancer by 85 – 95%!

I’m looking at it this way…if I had a heart problem and had to change my diet or have a surgery to take the risk of a defect away, I would do it. There is not a diet I can change for breast or ovarian cancer but I can have this testing and maybe take more aggressive testing or preventative methods to monitor things.  I'm viewing as being proactive instead of reactive.

Also, this information could be helpful to my sons and their children in the future.


This is not something I will dwell on as that typically isn’t my style, but it’s a real threat for me so I feel I owe it to myself to find out the facts and go from there.

I like the way the Myriad Testing website says it….
“When it comes to breaking the cycle of inherited cancer, knowledge is power and hope.”

Lots to pray about and think about, huh?



If you want to learn more about the BRCA testing, click here.