Genetic Mutations and Summer Vacations


Auntie Carmen, at Christmas, serenading Noah

What a ridiculous backdrop my life plays out against sometimes. In the midst of launching new businesses, seeking out new schools, dreaming of camping in various Niagara utopias, celebrating birthdays and watching my beautiful children become infused with the electric energy of spring, I’ve been working on a project that has made my heart so heavy, I find myself waking in a cold sweat each night.

For those of you who have been with me here from the start, you will know how many loved ones I have lost to cancer. For all of you, I will tell you that the people I knew intimately and lost were only the tip of my family’s dark iceberg. At my last physical, my doctor recommended I get screened for the BRCA1 and BRCA2 genetic mutations. Just over a week ago I sealed the envelope containing my family medical history and sent it off to Princess Margaret hospital.

And now I wait.

Remember when Angelina announced her double mastectomy and the world suddenly knew that you could be screened for a genetic mutation that is almost always linked to certain types of cancer? Well, that’s what I ‘m talking about here. In families where there are multiple occurrences of certain types of cancer (breast, ovarian, and colo/rectal cancers) geneticists look for a mutation in the BRCA1 or BRCA2 genes. If this mutation exits, the odds of that person developing cancer are STAGGERING.  Here are some details from the fact sheet on the BRCA1 and 2 mutations:

A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2.

Breast cancer: About 12 percent of women in the general population will develop breast cancer sometime during their lives . By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years.

Ovarian cancer: About 1.4 percent of women in the general population will develop ovarian cancer sometime during their lives. By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years.

You can read the entire fact sheet here.

What will I do if Princess Margaret Hospital thinks I’m a candidate for testing? I will get tested, of course. And then what? How do you not put the cart before the horse in situations like these? I know if I test positive, there isn’t much I won’t do to increase my chances of good health. Watching so many people die from cancer has been one of the aspects of my life that has most shaped the way I live. I realize I have very little say in such matters, but I don’t want to die before I’ve had a chance to see my children grown, or before I’ve had the chance to hold my grand babies. If information and knowledge give me any kind of power over my own health, I’m going to take advantage. Meanwhile, I’m fortunate enough to be so busy chasing my little people, I don’t have to dwell on the possibilities each moment.

I could die tomorrow. Any of us could. That’s a fact, isn’t it? What do we do but try to immerse ourselves fully in each little moment we get today?

So, I’m planning day trips, and summer excursions. I’m taking even deeper breaths from the sweaty head of my just-from-a-nap little boy. I’m dreaming of lazy, warm afternoons with good food and good friends, and I’m imagining the musical laughter and grace of three amazing Japanese gals who will be our beloved guests in August. Those things are real, and tangible. I can count on them, and they are precious jewels that glitter at the bottom of an often murky lake.

I love you guys, and I’ll be sure to keep you posted.




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1 Comment

  1. Rachelle
    April 16, 2014 / 3:50 pm

    Great blog Catherine. Making people aware of what is available to them is always a good thing. I am glad you are looking out for your health and doing what you can to prevent what you can.