Boyfriend Genes

In ILLNESS by Stephanie Klein0 Comments

Everything could have split between “before” and “after” yesterday. I was awaiting test results and lived the day as if it were my last in the “before.” I didn’t want to apply bronzer. The day when my children were born two months early, I had applied bronzer. When recounting the emergency of that day, that detail creeps up on me: that I had time to apply bronzer before racing off to the hospital. Now whenever I contour I think of the life and death that could have been, the day they were born.

Yesterday I had an appointment to review my genetic blood results. You don’t walk in and get the results straight away. Instead, they treated me as if I were there for an exam, taking my blood pressure, temperature, oxygen saturation. I took in the room, remembering my son’s emergency brain surgery, the way we had a life or death moment and still the Home Shopping Network aired. As I sat awaiting the doctor, I took in the design of the exam room, the embroidered rose design of the privacy curtain, its half moon ceiling track, an Ophthalmoscope neighboring an Otoscope, a sleeve of disposable specula. What if they said I was positive? Who cleans the scale? Everyone gets on barefoot.

I was asked to follow a nurse into the consultation room. The doctor would be right with me. The genes I had analyzed: APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Sequencing was performed for select regions of POLE and POLD1, and large rearrangement analysis was performed for select regions of GREM1.

My gynecologist and primary care physician had both strongly recommended the testing given my family history of cancer. I have a friend who tested positive for a mutation in one of the BRCA genes, and she opted for surgery, Angelina Jolie style. Much easier said than done.

The doctor neglected to tell me that I tested negative for any mutations in the BRCA or BRIP genes. Instead, she simply said, “The tests were inconclusive.” Say what, now? No. The tests were all negative except for one inconclusive test of SMAD4 gene. “No clinically significant mutations were detected for SMAD4 by sequencing analysis, using primers specific for the SMAD4 coding gene. No clinically significant mutations were detected in any of the other genes in the myRisk panel by sequencing or large rearrangement analyses.” Talk about burying the lead. Instead I simply got “Inconclusive.” Not to be confused with, “a genetic variant of uncertain significance.” That is NOT what my test result indicated, no. Just “Inconclusive.”

I celebrated the inconclusive results with vanilla soft-serve rolled in rainbow sprinkles, a cake cone.

My father’s wife Carol died from Ovarian cancer. She tested negative for everything. It’s certainly not a free pass. It’s just one less decision I need to make today.

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