June 25, 2015
It’s probably a really good thing the anxiety was under control cause we had an appointment with the geneticist the following week. Ya, geneticist….(that word is almost as scary as surgeon was at the start of all this…)
At my very first oncologist appointment they mentioned that I may qualify for genetic testing due to my family history, and given I had triple negative breast canser at 35. Kinda sounded like a lottery…except you really hope you don’t win this one. In Alberta you can get genetic testing done to see if you carry a cancer causing gene…or rather, have a mutation that makes you more likely to get cancer. But you have to “qualify” to take the test for free – otherwise it’s quite expensive to take, so most people probably wouldn’t. You meet with the geneticists and they go through your family history (as well as your own) and then decide how likely the possibility of a genetic link is. I was actually worried that they wouldn’t test me. My Dad died of pancreatic cancer when I was 2 – he was 35. His mom died of ovarian canser in her 60’s – which might or might not be genetic, given her age. But my Dad had no other living siblings. And all his family is in Nova Scotia, so aside from the history of 2 people on that side of the family, I had no other history to share. I was worried they would take “no history” and equate it with “no risk” when I was thinking it’s more like “unknown risk”. I also read about young people who had to “fight” to get tested in other parts of Canada…so I was gearing up a bit to make sure all data was taken into consideration when they decided if I should be tested or not.
I thought the ride there would be awful. But I once again went into “warrior” mode like I did during treatment and focused only on each minute as it passed and not a second after. Surprisingly I think I am sometimes at my calmest when I am facing a high stress situation since going through canser – which is really weird given I am such a…um….”passionate” person lol. Phil was with me so we chatted on the way up to the Alberta Children’s hospital which is where the genetic counsellor’s are.
I have to say it felt like we were sitting in the waiting room for a long time, but I don’t think it was that long. I remember thinking “will I think back to this as another time that my life changed forever?” I pushed that thought away just as they called my name. We stood up and followed her down a short hallway.
After introductions, they went through my family history that I had filled out previously, sometimes asking for details I might not have had, like age of death, or in the case of lung canser, were they smokers etc. There is canser on my mother's side too, but the only canser that I thought "might" be of concern was the pancreatic in my great great grandfather, and his father (but no one since).
Then they got right into what BRCA1 and BRCA2 are...everyone has those genes and when working properly they protect you from canser. Unfortunately some people have mutations of these genes - some mutations are harmless, and some put you at a much higher risk than the general population for breast canser (potentially over 80%!), ovarian canser, prostate canser and sometimes pancreatic canser. Maybe now you see why my oncologist referred me to the geneticist with my family history...in 3 generations we had 3 of the cancers that can be linked to a mutation with the BRCA gene.
They explained it can take up to a year to get results back. The reason is it is like they are looking for a spelling mistake in a 1000 word novel...that is why some mutations are harmless. Some "spelling mistakes" still make the sentence have the same meaning - for example if you read someone's sentence that had destroy vs destroi. Although the latter is not spelt correctly the context of the sentence would give you a good idea of what they meant. However, if you had something like hear or here...that could completely change the meaning of a sentence. If you think of the sentences like instructions for what the genes are supposed to do, you can now see how depending on the nature of the spelling mistake the instructions may make no sense or change how the body would react to instructions.
So far everything made sense. I wasn't feeling freaked out...but it started to dawn on me that we weren't discussing if I should be tested...
"So I know that there's not much history on my Dad's side, but would I qualify for testing given it's 3 generations?"
They kinda blinked at me.
"Oh yes, you qualify - this meeting wasn't really to figure out if you qualify - your age, type of canser and your Dad's family history are enough to make us suspect potential genetics involved, so it's more to give you the information if you choose to get tested, and when."
Oh. They just handed me the answer I was prepared to fight for...and now I kinda felt those cold fingers of fear slowly sliding across my heart....every scary thing we just talked about could apply to me...
I could be the next Angelina Jolie...but it would have nothing to do with my acting skills (or being married to Brad Pitt).
Well, if I don't get tested, and I do carry a mutation, then my risk doesn't diminish just cause I don't know about it...and what about my kids?
They explained that my kids each have a 50/50 chance of carrying the gene if I carried it. The risk though is adult onset canser, not childhood canser, so the kids would not get tested till they were at least 18 years of age, and it would be their decision, not mine.
I asked about screening for pancreatic and ovarian canser since that was in my family history. They told me I could get screened if I had a mutation, but screening for both is not very accurate. Both cansers are often caught late, and therefore have a less positive prognosis. If it turned out I had the gene, there would be the option of an ooferectomy - removal of ovaries and fallopian tubes - which reduces ovarian canser risk by 90/95%. You kinda need a pancreas, so for that it's sadly just screening that isn't great at catching it early.
So what choice did I have really? I felt the only choice I had was to get tested. And hope like hell the results were negative. Which isn't as delusional as you might think. I know many women who have a history of breast canser in their family that do not have BRCA mutations.
The one thing though that stayed with me when I was leaving was that she told me if I carry a BRCA mutation then even if I led the perfect life risk wise (ie diet, exercise, limited drinking etc) I 'd still be at a higher disposition to get canser.
Which in the days following the appointment I took to mean "You're screwed either way". (not a great feeling).
On our way out we took our requisition and stopped in the clinic to get the test done. No time like the present right?
The test consists of the nurse drawing 2 viles of blood. That's it. Those 2 little viles held my future. They would send it away to look for spelling mistakes. I've never been great at spelling, but I fervently hoped this was a spelling test I would ace.
Thank God for Guinness.
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