Genetically Speaking

Twisted Sisters

Twisted Sisters

My sisters and I share many traits.  We all inherited light blue eyes and relatively straight teeth.  We share a sick sense of humor and a tendency to cry at the first sign of any form of sentimentality whether it be from within  our own family or from a Hallmark commercial.  We all unfortunately received short heavy legs from my father and a propensity to occasionally overindulge in food and drink, along with an innate sense of knowing when to help someone in need.

One thing we don’t have in common is breast cancer. So far my sisters have sidestepped that train, leaving me, the youngest with the notable position of being the first child in the family to have any kind of cancer.  Today, I took the first step in discovering if my breast cancer  was actually genetically predetermined or if it was mainly environmental.  Today I met with a geneticist who will test my blood to see if I have any alterations in two specific genes which would give me a greater risk of getting breast cancer again or of  getting ovarian cancer.

The two genes they look at are the BRCA1 and the BRCA2  (pronounced bracka one and two).  As you may  remember from biology class, we all receive a full set of genes from both our parents.  In each cell we have a gene from our mom and dad.  If , when they look at the DNA sequencing in the BRCA1 gene, there is an alteration, then I have a 50-85% lifetime chance of getting breast cancer and a 20-40% chance of getting ovarian cancer (the general population has a lifetime chance of 1-2% risk).  If they find an alteration in the BRCA2 gene, I also have a 50-85% chance of  getting breast cancer and a 10-20% chance of developing ovarian cancer.

Before they would actually  do the test, I had to speak with the geneticist and give a family history on both sides to see if the test was even feasible.  My mother did have breast cancer but it was not discovered until she was 60 –post menopausal–although we can’t be sure when she got it since she had NEVER had a mammogram before age 60.  She also had Colon cancer which she ultimately died from after it reached her liver but she was 83 at the time.  My father died of complications due to esophageal cancer and his family had forms of brain and lung cancer as well.  There is no history of breast or ovarian cancer in my cousins on my dad’s side.

This information alone was not tantamount to having the test done but the geneticist thought it would be a good idea in light of what I didn’t know.  My mother’s mother actually died when my mother was an infant and my mother had no sisters so we have no way of knowing the history on that side. It’s a bit of a mystery.

Ultimately the decision was mine to make. I already knew when I walked into Dana-Farber this afternoon that I would have the test done. It’s information I would like to have, for myself, and for my children, who would be at greater risk if they found the altered gene in me and it will dictate their future screenings.  For example my daughter would start having mammograms at age 25 instead of 35-40 since her mother had breast cancer and has a mutated gene.  There is a 50% risk that I would pass this gene to them as well.

For me it is a matter of knowledge and piece of mind.  If the test comes back positive for either of these genes than I may consider a prophylactic mastectomy on the other side or possible having my ovaries removed –which would alleviate many years of taking Tamoxifen since my estrogen would automatically be depleted.  If the test is negative, I sigh a sigh of relief and move on.  There is one other finding which is “inconclusive” — which I think may be the worst of the bunch.  I’d rather know one way or the other as opposed to getting the shoulder shrug from the lab.

It’s all quite amazing that this is even  in our capacity nowadays.  I know it is just the beginning –genetic research will be commonplace in years to come with home test like pregnancy tests that you can take in your bathroom.  For now though it is the insurance companies (again) we have to worry about.  This test cost $3500.00 and if my insurance doesn’t cover it, I am given the option of paying out-of-pocket.  Of course, I won’t.  I will pay a co-pay of up to $300 which is hopefully as high as they will make me pay.  I will know next week when the lab calls to tell me.

By law the insurance companies can not deny you coverage for a pre-existing illness and they can not deny you when they know you are BRCA positive.  Life-Insurance on the other hand can increase their premiums once they get this information, but I will worry about that later.  One worry at a time, here, let’s just see what the test tells us, then I can take it from there.  I will have the results in 2 week.

About francesbarrie

Cancer survivor,mom,triathlete,writer,jewelry maker, baker. Staying happy and healthy,living life and enjoying it one moment at a time.
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1 Response to Genetically Speaking

  1. Hollace says:

    I’d title that picture 4 Hot Blondes!

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