what is ATM?
a) ATM: a machine that spits out money.
b) ATM: a really big gene that when mutated, increases one’s risk of breast cancer by 25-40%.
c) ATM: alcohol, tequila, and marijuana, for short (thanks, laurie).
while i’d really like to spend time with a) and c), i have some news about b).
when i was diagnosed in 2012, i went through genetic testing for the BRCA mutation. the geneticist said it would be highly unlikely that i’d have it, given our family history and ethnic makeup. she was right–no mutation. but for awhile there, hanging in limbo, i was snowed in by the “what if” questions.
will i have a double mastectomy? will we be able to separate out our embryos for those that carry the mutation? will i ever bring my risk of breast cancer down to zero percent?
when the results came back negative, i heaved sighs of relief. one less layer of complexity to maneuver. one less quiver in the arrow.
this cancer thing…psssha. a total fluke. a freak incident. bad luck to walk right into the path of a lightning bolt. sure, i asked, “why me?” and sure, i blamed myself for a litany of things that i did to cause it (e.g., too much cheese, too many veggie corndogs in college, too many parabens in my shampoos, too few babies before i was 30). but the universe’s randomness brought an iota of comfort. the quote from zen and the art of motorcycle maintenance: an inquiry into values rolled around in my head: “for every fact there is an infinity of hypotheses.”
so i moved forward, with treatment, procedures, a plan.
then this fall, while cruising around on some oncology science portal (maybe i picked up via osmosis some bit of knowledge as i slept through my dreaded 8am freshman year biology class), i noticed a certain gene mutation that is a is common is both renal clear cell carcinoma, which my dad has, and breast cancer. i pounded out a quick note to my oncologist asking for the details. she agreed further testing would be practical and referred me to the geneticist. and in september, i had an hour-long appointment, mapping my whole family tree (again), tracing my family history (again), and getting my blood drawn (again). they said, “the chances of there being a smoking gun here are really tiny. so don’t expect any clarity.”
i mostly forgot about it.
then i ordered mike a 23andMe kit for his birthday gift, thinking, “cool, maybe we’ll both learn something interesting on this gene stuff.”
oh what would become the irony.
mike and i went into the genetics appointment together. we walked in with three doctors in the room (note: this is not usually a good sign, even for a teaching hospital.)
“well, we may have found our smoking gun, meaghan.”
dry mouth. ears ringing. sweaty palms.
before i go on, i want to put it out there that one of the most annoying things about having cancer is when people wrap their own blankets of concern around me. “did you eat a lot of red meat?” if my answer is yes, then the asker will be comforted internally, “oh, ok, i don’t eat a lot of red meat so i’m not going to get cancer like her.” bacon, sugary drinks, not exercising, not meditating…whatever the “it” is that will cause our bodies to have cancer or protect our bodies from getting cancer.
the smoking gun is called the ATM mutation. we all have the ATM gene but very few of us have the mutation. it’s quite rare. and just recently has been found to have an increased risk of breast cancer in women who carry the mutation, a 25-40% increase (for reference, the BRCA mutation increases risk 50-85%; if you fit into normal risk factors, your chance of breast cancer is 12%; hereditary cancers only account for 10% of cases). this mutation also has zero relationship to renal cancer, so my initial inquiry for this additional genetic screening didn’t pan out in relevance.
where does that leave me…?
i’m angry that i’m catapulted right back into cancer land, there doesn’t seem to be a way to forever put cancer in the past. i’m angry that no one tested me for this three years ago, even when they were aware of this mutation and its linkages to BC, likely because of the costs of genetic testing at the time. i’m angry that i might have made different surgical choices then, that maybe i would have had that double mastectomy. i’m angry that my left “healthy” breast falls into a higher risk pool now. i’m angry that i had to ask for this test. i’m angry that i need more frequent and additional screenings now on, with two MRIS each year, each inducing scanxiety on its own. i’m angry that people with the ATM mutation (like me) usually don’t receive radiation treatments (like me) because it increases that their risk of cancer. i’m angry that i received radiation. i’m angry that the ATM mutation may have contributed to my surgical complications. i’m angry that i spent three years thinking my cancer was just a random fluke. i’m angry that i spent three years working through the guilt that i could have prevented this through certain lifestyle choices. i’m angry that now mike has to get tested, because if we both carry the mutation, our embryos and children have a high chance of developing a horrific childhood disease that is akin to ALS for kids called ataxia. i’m angry that he has to become a patient because of me becoming a patient. i’m angry that my parents might somehow feel implicated in this, that they have to get tested to inform their own healthcare. i’m angry that i had to bring my family into this conversation, that i have to boil this down to what this means to my brothers and nieces.
the fact of the matter is that even with this genetic mutation, it still might not be the reason (reasons?) i got cancer.
despite my geneticist’s smoking gun reference, we likely will never know.
coming back to zen and the art of motorcycle maintenance, “the truth knocks on the door and you say, “go away, i’m looking for the truth,” and so it goes away. puzzling.”
my drain is out. i’m healing well and my doctor is monitoring the stitches closely for any signs of trouble. i’m grateful for medical leave, mike, and you all. talk with you soon.