Showing posts with label genetic testing. Show all posts
Showing posts with label genetic testing. Show all posts

Thursday, July 16, 2015

Genes Can Kill You

The report from the genetic counselor came in the mail, and I opened it to see this bright red, with the words "SIGNIFICANT MUTATION IDENTIFIED" emblazoned prominently on the first page.  Since I read comic books as a kid, I immediately thought, "Cool--I can join Professor X and his roving gang of crime fighting mutants!"   Reality hit in the next second, as I read further.  Yes, indeed, I do have the BRCA1 mutation.  Which means that I am at high risk for breast and ovarian cancer, the report read. 


Of course I am at high risk, I thought.  Of course. I already have the cancer that I'm supposed to be at high risk for, I wanted to yell.  But in a way, this news was a relief.  I had been beating myself up since I was diagnosed.  I must have done something, I thought, to be visited by such an aggressive and fast growing cancer.  As far as I knew at the time, I was the only person in my family who had ever had breast cancer.

I must have been exposed to something, I thought.  Maybe I inhaled too much cigarette smoke when I worked as a bartender.  Maybe I should have paid more attention when my previous employers did their asbestos removal, or when they insisted that the bat guano accumulated over the years in the attic above my desk was not an environmental hazard.  Perhaps my alcohol consumption in my twenties was the culprit.  Surely there was something to explain this random arrival of breast cancer in my neck of the gene pool.  I was beating myself up about the entire event, because it was so unexplainable to me. If I had been diagnosed with melanoma or a form of skin cancer, that wouldn't have phased me one bit; I spent hours outside in the sun without any sunscreen for years growing up, just like every other person my age.  If I had been diagnosed with lung cancer, my repeated exposure to second hand smoke would have had me nodding in understanding instead of confusion.

Having the "random" aspect of my diagnosis eliminated meant that I had not done any particular thing to merit a tumor.  There was a clear genetic reason for my situation; a mutation passed to me from my father's side of the family.  And since I'm also at high risk for ovarian cancer,  due to the same gene, now I have the knowledge I need to make some decisions.  Knowledge is power.

My oncologist read the report and recommended a hysterectomy, since one of my ovaries lit up on the last PET scan that I had.  He actually wanted me to have this done immediately.  I pictured another major surgery invading my life, with another six weeks of recovery on top of the planned mastectomy/reconstruction I had planned.  I was also concerned that I hadn't been visited by the menopause fairy, with her random hot flashes and other goodies.  Would that affect anything?

I visited with my Ob-Gyn, who never seems to panic or get upset, no matter what.  BRCA1, I said.  He didn't even bat an eye.  Outpatient surgery, he said.  Laproscopic.  Apparently there's also a robot assistant, which intrigued the nerd in my heart of hearts.  Wait until after radiation is done, he recommended. I left his office feeling less anxious than normal.

I won't be finished after all that, according to the genetic report.  I'll also have to pay attention to the possibility that I may acquire pancreatic cancer and colon cancer along the way as I age.  But those risks are not as significant as the first two, and are manageable on my anxiety scale. I then got on the Facebook Family messaging system and contacted as many of my cousins as I could, to spread the word.  After all, if two of seven siblings had the gene, odds were good that others might have passed it on.  I know that at least one of my cousins was at the genetic counselor within a week, getting tested. 

Knowledge is power.

Saturday, June 27, 2015

I Spit for Genetic Counseling

The other day I met with a genetic counselor.  As I've mentioned previously, a cousin of mine informed me that she tested positive for the gene that is responsible for breast cancer.  She sent me her test results, and when I mentioned this to my dad, he immediately responded, "oh yeah, my aunt died of breast cancer."  Sigh.

My counselor turned out to be a nice lady with a pretty smile.  She explained that if I did have the breast cancer gene, that increased my risk of other cancers showing up, such as colon cancer. (Her comment made me remember that, since I'm now 50, a colonoscopy was likely as a health screen.  Because my brain just sort of zeroes in on these sorts of details.)   The nurse had me fill out a few forms regarding my health, and then she drew a chart. 

Squares were boys and circles were girls, and this was a family health tree.  On it were indicated such things as who died of what disorder, and which family members had had which sort of cancers or other diseases.  The counselor explained about genes and chromosomes, using some lovely color pictures.  I'd been through the biology class lecture before, but a refresher never hurts. 

Next came the test.  I expected that there would be blood.  Genetic testing involves genes and chromosomes, and that's not something that you can just phone in.  So when the genetic counselor came in with a box, I was confused. 

"No blood?"  I asked. 

"No blood," she replied.  Instead, she pulled out a small graduated cylinder with a lid and a bottle of mouthwash.  She explained that I would need to spit.  In fact, I would need to fill up the graduated cylinder with spit.  Spit and mouthwash.   She opened the mouthwash for me, since my fingers limited my ability to do it myself.  Then she left the room, because who likes to watch a person spit into a cup?  

I poured some mouthwash in the little cup provided, and sat it on the table.  I stared at it a few minutes.  Truth be told, I would have rather given them a vial of blood.  I'm not a big spitter.  When other kids were having those spit for distance contests, I was elsewhere, because I was grossed out.  Spit, and snot, just give me the flaming heebie-jeebies.  Those two particular bodily fluids just make me cringe in horror, my stomach ready to rebel.  My tolerance has improved over time, but I still don't like spitting.  Now I was being asked to spit for science, so that I could find out some answers.  Could I do it? 

I thought that maybe could.

I threw that first mouthwash shot back like it was tequila.  Then I swished it around as long as I could stand it, and spit it out into that graduated cylinder.  I repeated the exercise, again.  Then again.  Then again.  Geez, I thought.  Will this stupid cylinder EVER fill up?   I was reaching a critical mass of yuckitude, but finally the container was full.  I was never so grateful to put the lid on a specimen cup!  I sat back in my chair and had a moment to regain my equilibrium.  Then I called to the genetic counselor, who came back into the room and labeled everything and put my spit cup into a box to be sent to a lab for analysis.  The results should be back in a week or two, she said. 

I was proud of myself, but if I don't have to spit into a cup again, anytime soon, I won't be upset. Not at all.