Tuesday, July 31, 2018

The Day I Discovered My ATM Gene

Peipins   “The Day I Discovered My ATM Gene

               After receiving a breast cancer diagnosis, I recently got a detailed genetic test from the company, Myriad, which gave me a surprising result.  I discovered that I had a homozygous variant of the ATM gene.  What did this mean?  The interpretation given was that it had uncertain clinical significance which meant nobody really knew.  Not surprising since this is what happens when technology goes beyond our ability to understand where it has taken us. 
            Armed with a brightly colored document, I sat down with my oncology nurse.  She asked, “Were your parents related?”  No. Both my mother and father were from Latgale, the rural province of Latvia that is somewhat isolated from the rest of the country. My father grew up in Siberia where Catholics often immigrated to in the hopes of owning land they weren’t permitted to do in their own country. There was no connection between them. In fact, my parents only met in Buffalo, New York, where they ended up as refugees after the Second World War. 
            ATM stands for Ataxia-telangiectasia, a rare illness that affects the neurological system causing difficulty in movement and severe disability usually appearing in early childhood.  My nurse got on the phone with Myriad to speak to a genetic counselor.  I heard her answer to the question I could imagine, “Cognitive problems?  My patient is a university professor.”  At least I was before all the cancer treatments. 
            No cognitive dysfunction but I’ve always had a propensity for magical thinking.  I have a deep survival instinct but not much of a sense of how to live practically.  Could there be a connection to this genetic anomaly? Could this ATM gene variant have caused my wanderlust, my lack of establishing a home? I did my best when I lived in Spain where the details of life were taken care of.  Health care was universal and my monthly salary covered my expenses which the bank paid automatically at no extra cost.  I even received a double pay at vacation time.  Back in the United States, I try my best to control all of my limited income and the ever increasing expenses caused by an inability to go back to my profession.
            So where has this magical thinking taken me?  To a deep quandary.  Who can I believe in this tangled world of cancer treatments?  Oncologists, cancer survivor networks, big pharma, and the disgruntled suffering patients you meet every day at the chemo labs all have different takes on what works. Bouncing on a trampoline, putting baking soda in your water, and fasting were all “cures” I heard discussed in the chemo lab.  The lab itself offered a refrigerator loaded with soft drinks and baskets of salty snacks. At least those items I could discount yet I have no idea what would help a patient survive though I read through e-mails from “The Truth about Cancer” and blogs from the few patients who have been cured. 
            I want to believe in radical remission, the possibility of total healing that conventional medicine rarely provides.  Or I can check the statistics and think, yes, I can survive five years with barely tolerable side effects from the drugs that keep me going but offer no real guarantees of a cure.
            For many cancer patients their most trusted confidant is often their oncologist.  This surprises me.  I thought the days when the doctor took on a Godlike status and there was no room for doubt were long over.  After all, these days, we need to be doctors ourselves doing as much research as possible through the mess of Internet fake news and professional articles. My own oncologist commented to me, “You’re always negotiating.”  In my mind, it’s what’s keeping me alive.  Is that magical thinking or the only sane way to progress in this medical world?
 My perspective on doctors is the opposite of trusted confidant.  There is a conflict of interest with many health care professionals locked into following industry established protocols and recommendations from pharmaceutical companies promoting their latest  drugs. Many of these drugs give a negligible increase in life expectancy and may be variations on the drugs already out there.  Many of those drugs undoubtedly increased life expectancy.
There is also the question if a billion dollar cancer industry is even interested in curing the cancers out there. Breast cancer turned into a chronic ailment is a huge financial boon.  Five to ten years on estrogen suppresents for estrogen positive cancers racks up profits.  Not to mention the cost of chemotherapy itself. Neulasta injected to help mitigate the effects of chemotherapy is eight thousand dollars a pop!
 I’m sure there are many caring doctors out there but many patients blindly follow any advice they gave.  The hope that the next treatment will work can lead to endless suffering and a deterioration of the quality of life.  It’s heartbreaking to see a young cancer sufferer saying “I’ll beat this,” and treatment after treatment takes away the possibility to spend quality time with her family.  A battleground is not the right metaphor for cancer survival.  Cancer cells are in all of our bodies and killing them off along with healthy cells may not be the best way to go. 
What is the answer?  Fear is the biggest factor in making decisions about medical treatments.  If I don’t follow the doctor and take this medication will I die?  Do I have to suffer piercing headaches, eye pain, depression, and joint pain that makes me feel a million years old because of taking an aromatase inhibitor?  Is there a better solution?  What could it be?  Is there any chance researchers are working on that or is it simply not profitable to do so?
In my magical thinking universe I would take the thousands of dollars spent on chemotherapy, surgery, and medication, and take a long trip.  I’d visit a Vedic astrologer in India,  meditate in a Buddhist temple in Thailand, and lie on a beach in Crete soaking up the hot sun listening to the waves carry tiny stone pebbles.  Instead, I sit at the computer eking out an almost minimum wage at a testing job and wondering if this is how the last years of my life will be spent in this worry and doubt.

1 comment:

  1. Beautifully written and heartbreaking. We live in a world where it could be any one of us at any time that is ushered into the medical vortex you describe. I love to imagine being in all the places your last paragraph describes, it feels exhilarating to do that, feeling the benefits of your magical thinking. I can picture you there too. Much love to you Terez...