When a Genetic Test Brings Bad News – ChicagoNow (blog)

Posted: August 27, 2017 at 12:47 pm

The Ancestry commercials are right. Genetic testing can launch us on rewarding paths of self-discovery. Last year, using a common test kit, I found out exactly how Polish I was. My mother was 100%, and I inherited 51% of those genes in total, edging out the Scots-Irish portion of my genetic inheritance by a hair. I thought that was pretty cool, as I have many fond memories as a child visiting Grandma Wanda at her walk-up apartment on the 4000 block of Milwaukee Avenue, next to the big furniture sign.

Besides offering the gift of claiming a heritage, genetic tests can help us mitigate the damage of diseases lurking over the horizon. When a rather common form of cancer afflicted my sister Nancy, and returned unexpectedly with a vengeance, I chose to get tested specifically for genetic mutations myself. And not just for me; Nancy and I have three sisters and a brother to think about. Men are affected too by mutations, as I was to learn.

I thought I was prepared for any news, but I hadnt anticipated the steep learning curve ahead. It seems the field of predictive genetic analysis is moving at breakneck speed. Id assumed that breast cancer-associated gene mutations were limited, basically, to two: BRCA 1 and BRCA 2. But no. There are several others, including something called CHEK 2 mutation, which I unfortunately carry. Considering the giant RED HIGH RISK ALERT on my report, I did some research within the medical literature on this one. Turns out its most prevalent in women of eastern European or Polish ancestry. This genetic glitch puts me at high risk of developing breast cancer. If I do, and its effectively treated even if I think I'm cancer free as deemed by a physician using standard methods of analysisthe chances of recurrence are about 30%, as opposed to the 4% risk borne by those without this particular genetic malfunction.

Damn. Well, I get regular checkups, and have both competent genetic counseling and good doctors willing to spend time helping me figure things out. For now, things look fine. Im bummed that I felt stressed and strange this week, as if my person had been violated or my place had been robbed. Knowledge is power but in this case, its also pretty depressing. And let us not forget the uncomfortable "alert your other close relatives" phase. Trust me, even with a clear report for your relatives to peruse at their leisure, there is never a good time, or a good way, to share this stuff. Ive moved from the surprise phase to (apparently) deliberately ruffling my own peace of mind. More of us may find ourselves in my situation as genetic testing becomes more common. I suspect that my biggest struggle is with the concept of time. As in, how much left, and can I really affect the odds?

Ive turned over a few options in my mind, sometimes out loud. In the morning, fortified by strong coffee, makeup applied, and fully dressed for the day, I generally assume the best outcome. Most of my family did not suffer cancer. At night, when I'm tired and start washing off the make-up, I figure I best prepare for the worst. (I know, not very rational due diligence is one thing, opening a mental door to disaster, another). Better cut them off now, I sigh.

The other day a physician cautioned me about quick, life-altering decisions that are currently unnecessary. All right then. Should I leave work and retire earlier than planned? The last thought is tempting. I miss my hometown, a place I appreciate more with every visit. But I love being with my students, too. Their enthusiasm is contagious, and together we are on the path to continuous learning. It keeps me young and feeling alive.

Marc, my husband, gently tells me that now isnt the best time to play 52-card pickup with my life. Im here, and well work through everything together a step at a time, he assures me.Recently during one of my melancholy deep dives, the closing lines of Stanley Kunitz poem, The Layers, came to mind.

Though I lack the artto decipher it,no doubt the next chapterin my book of transformationsis already written.I am not done with my changes.

This snippet, in turn, sent me to my jewelry box to dig out a little-worn silver ring I'd had engraved with the words, "It Is Already Written." Fellow fans of the movie Slumdog Millionaire will recognize the reference.

Im glad my hyper-activated imagination finally turned up something helpful to ward off bad thoughts. Stanley Kunitz, who died weeks shy of his 101st birthday, understood that the imagination can do much more than worry. It can transform any experience. Its sheer force shapes reality and reminds us, wherever we are, whatever we face: we are not done. This is our time to take ownership of our lives as fully as possible, and to live as well as we can.

This was my turning point of the week. In the next blog, Ill talk a little more about coping in gnarly situations like this.

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When a Genetic Test Brings Bad News - ChicagoNow (blog)

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