These Genes Don’t Fit

A section of DNA; the sequence of the plate-li...

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Last month, I decided to take the plunge and drive north to Seattle to speak with a genetic counselor to determine whether there’s any likelihood that I developed breast cancer as a result of a malfunction of my genes.

The current numbers from the experts say that only 5% to 10% of women who develop breast cancer have a family history that can be attributed to a genetic defect passed down through relatives (either male or female). So, despite what the various media might lead you to think, most women who develop breast cancer do not have a genetic defect, at least not one that we can yet identify.

Still, some of the recent research about triple-negative cancer raises the question of a greater likelihood of a genetic defect (most commonly a mutation of BRCA1), and so I again had to consider whether to sign up for genetic testing.  Both my oncologist and the naturopath said it was unlikely and they didn’t see the need to progress to testing, but then came a report from the New England Journal of Medicine, which charted a higher rate of genetic defects among those of us with triple-negative or basal types of breast cancer. Since I do have a son and a daughter, each of whom might be affected if I have such a mutation, I had to lay the issue to rest in my own mind.  (And as a couple of people put it to me, “The mutation has to start somewhere!”)

So I asked the oncologist to refer me to the counselor at the University of Washington, home of the highly regarded Fred Hutchinson Cancer Center, one of the foremost cancer research centers in the country.

And what I learned, once again, is that life is rarely a matter of a simple yes or no. Yes, genetic defects can play a role, but that role is much more complex that simply saying a defect exists or doesn’t.  Science is amazing in what it has uncovered about human life, but when it comes to issues like genetics, there are more unknowns than facts. Even my astute daughter figured out that, should I have a genetic mutation, her chance of developing breast cancer is only 50-50.  (And who says they don’t teach substance in schools these days?  She studied the basics of Mendelian genetics and chemotherapy in science last year.)

As I mentioned in earlier posts, I have the great benefit of coming from a large family – 8 aunts and uncles, 35 first cousins – and I know much of the history of the illnesses passed down among these relatives. With the exception of my maternal grandmother, there are absolutely no other cases of breast cancer in that extended family.  But that fact is not enough on its own to rule out a hereditary cause because some syndromes leading to breast cancer are associated, for example, with sarcomas and leukemia, or digestive and thyroid tumors. As this information from the American Cancer Society shows, the various risk factors and genetic influences — BRCA 1 and 2, ATM, p53, CHEK2, PTEN — are much too complex to pin down in any single case.

After carefully recording the details of medical problems in my extended family, the genetic counselor I spoke with determined that the chance of my having a genetic defect is only about 5%. That number doesn’t explain why I got the disease, but it goes a long way toward making me feel more optimistic for my children’s futures.

This is a set of genes I’m quite happy don’t fit.

Looking for My Balance Again

Now this is one of  the holidays I like to acknowledge: St. Patrick’s Day, when the leprechauns appear, if only in our imaginations, and the city of Chicago, city of broad shoulders, turns its river green, on purpose.  This is a fun holiday — not like stuffy ol‘ Presidents Day — along with April Fool’s Day, May Day, and the Japanese holiday of Setsubun (early February, when the custom is to throw roasted soybeans around the outside of your house to dispel demons and the bad luck they bring).  I might just don that metallic green wig I was given.

Speaking of hair — I received a few comments about the photos attached to the last update.  One person said they didn’t look very good.  (I agree.  My regular photographers were off duty, so I took those myself.)  Another thought they were cute.  Someone else said I have that “lesbian look.“ And my brother says I now look like him.

I’ll choose to consider that a compliment.

It’s been a week since the last of the cancer treatments, and I’m starting to realize how all-consuming the trek has been. Now that the trips across town have stopped, I feel rather like the treadmill I’ve been on has abruptly been turned off.  You know that jerky feeling of motion, then sudden not-motion.  You sway, stumble a little, and fumble to regain your balance. And then you stand a moment and wonder, “Now what was that?”  This rebalancing may take awhile. No more blood counts.  No Popsicles.  No zap count. And it seems ages ago that I rode the steroid roller coaster.  Productive though I was during that time, I don’t miss the dexamethasone high.

No more schedules, or measures of progress.  No more counting down days on the calendar. I now enter the recovery phase.  I still apply the skin ointment, though all the redness and itching have gone.  I am still trying to rid my body of the remnants of the chemical overload, and I still — and always will — think about prevention. Though I greatly admire those who have done it, I do NOT want to repeat this particular journey.

In the realm of helping the body recover, I investigated another type of body work last week.  My usual massage therapist, the one who uses Reiki, books up pretty quickly and so, in the interim of waiting for my next appointment with her, I took her recommendation to see a different massage therapist, one who incorporates craniosacral therapy.  This type of therapy ranks among the many approaches to clearing the body’s energy channels, in this case addressing the fluids.  As she explained it, craniosacral therapy is designed to keep the 70% of the make-up of the body — its fluids (spinal, blood, etc.) —  moving unobstructed, in the same way that Reiki works to keep the energy channels clear and open.  It’s a similar sort of laying on of hands.

Does it work?

Don’t know for sure but afterwards, as I stood up to get dressed, I felt a distinct, pleasant tingling just under my skin, and I paused for several minutes to allow the sensation to linger. Now this particular piece of the journey I would indeed like to repeat.

Last week I also paid another visit to the naturopath, who’s scaled back the plan once again: fish oil daily, Vitamin D every other day, and a recommendation for an herbal concoction to replace the Ativan for sleep.  He said I can go back to the CoQ10, the enzyme that bolsters the heart, for about 6 months if I like.  Despite the recent report in the New York Times, he sees no special benefit in taking aspirin, though I’m going to do it anyway since it helps with heart disease — a hallmark of our family tree.

If I want to go beyond that for prevention, he recommended curcumin, also known as turmeric. It‘s a regular ingredient of Indian food, but needs to be bound with an oil to be absorbed by the body.  So my choice is this —  I could either buy the spice and mix it with those shots of olive oil he once mentioned, or I could just buy the properly calibrated capsules from the compounding pharmacy.

Guess which one I chose?

He also suggested a concoction of  “magic mushrooms” as a preventive.  Not the kind that produce hallucinogens, thankfully (the steroid high being quite enough for me), but shiitake, maitake, and a host of others, including something called turkey tail.  And of course this mixture comes in capsule form. There’s no medicinal element  in nature that we can’t try to put in a capsule.

I’m still wading through my stack of literature about the transition period after treatment. So far, I’m seeing a clear distinction drawn between cure and healing, which is good.  One of the booklets produced by the LiveStrong organization (Lance Armstrong’s group) includes a link to a site where you can document your family medical history to generate a health tree:  I haven’t tried it out yet, but it ‘s probably time to do so.

As for the next steps in my journey, I’m not sure where they’ll lead.  Which way do I go — back to what was before or on to something new?  (Spring implies something new.) Do I act like it didn’t happen — all the while fearing it will reappear at exactly the moment I‘ve finally forgotten it? Or do I just consider this experience a speed bump on my personal highway?  In that case, do I take the exit to hypochondria, imagining that every odd twinge heralds a return to the highway? So many choices. Which way to go?

Stay tuned…..