DNA hit

It was Monday, Wednesday, Friday at 830am. A 20 minute walk, often in the South Bend gray. The permacloud we called it. If I was late, most of the time, I slinked in, up the left aisle to find a seat where I could splay out my left hand for writing in a right-handed desk. The world was unfair. He droned on and on about cellular functions – the cilia of that cell and replication of another, T-cells as the kingpin of them all. All the processes squirting and squeezing nutrients in and through the body, from one place to the next. I was struggling to make myself become a biology major. And I was squeaking by with a D-. The chapter on DNA and punnet squares was poorly timed in January, the iciest on record.

What is DNA anyway? They say it’s a thumbprint, unique, only yours. They talk about it like a zipper, a puzzle, a permutation. One set of molecules matched up in lockstep with another. Some pieces are the worker bees, repairing the broken blocks, the foundation. Maybe born broken down, passed on from my parents, or too much sunshine, or second hand smoke, or free radicals, whatever those are. Others are clues – what color will my eyes be? Moss with a shade of water, a college Lothario told me. How curly will my hair end up? Will my knees hyperextend? And most of the DNA in that beautiful double helix strand keep all systems go.

Until they don’t.

When I got diagnosed with breast cancer, I was so young. Thirty-two, a fresh-faced bride. An oddity. No history of breast cancer in my family that mattered in my case. The doctors wrung their hands. Clearly there had to be a smoking gun here in the form of a genetic mutation. I wondered, Why do these analogies have to be so violent? Wasn’t cancer violent enough, the DNA repair kit gone awry, its foot on the gas pedal on a one-way street going the wrong way?

Most cancers are not genetic. Really a tiny fraction are. So where do they come from then? They are in the air we breathe, the pollution we inhale and ingest, the plastics we use and toss to the side, the fibers we wrap ourselves in, the chemicals we wash ourselves with, and on. but I’m not about to blame myself for my cancer.

The DNA test came back negative, no mutation. The genetic counselor said well, there are hundreds of genes that we are unable to test. Your insurance won’t cover it because the cost is significant and prohibitive, in the thousands of dollars. And there’s a company – Myriad Genetics – that is trying to get a patent on all the genes and standing in the way. The case against them is in the Supreme Court now, but it won’t help you in time.  

So I breathed a sigh of relief. Genes be dammed. Mine were just fine, maybe confused for a few minutes, but nothing to lose sleep over.

So after and through a year of chemotherapy, I opted for the single mastectomy. I opted for radiation. I opted and opted and opted.

Until several years later, an academic paper caught my eye. On a sleepness night, I self-loathed enough to play around in Google Scholar and search academic publications for links between breast and kidney cancer, my dad having been diagnosed a year before me. I never did become a biology major, but my eyes glazed over enough academic literature to glean some skills.

Staring back at me was a hit – a genetic connection between the two now being more and more understood through the ATM gene and its rare mutation. A children’s hospitalist discovering it after working with children with a rare type of life-ending disease, ataxia. Their mothers had breast cancer more commonly, he noted, than any of the other diseases he worked on. So he started collecting data. And noticed other patterns. The genetics just hadn’t yet caught up.

And now they had, only to me.

ATM gene
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