BRCA testing and genetics

Sooo…today I did two things. One: tobogganed behind the house and slide into the school wall several times. (Does that make sense? There’s a school behind my house at the bottom of a hill. We slid down the hill. We slid into the school’s brick wall – our sleds were just that fast.) Two: went to the CHEO hospital in Ottawa and had a visit with a genetic consultant.

Let me tell you how it went.

Having braved the Canadian winter morning and arrived at the hospital, we headed up to level three and checked in. Apparently there was some blip with my health card, I have no idea what was wrong, but as the receptionist frowned at the screen I waited patiently. In my opinion when things go wrong, so long as I know I’m in the right, there’s really no reason to worry.

Eventually she fixed the problem. Something about the number being entered improperly.  And we were escorted into a small office.  In came the genetics consultant – a very pretty woman about my age, and so we had our meeting.

Q) She asked me who my doctor was and why they referred me.

A) My doctor is Dr Canada, and he referred me because he reckons I ought to be tested (see my Queen Victoria connection for the reason why).

Q) And having had no history of cancer in my family, why do I want to get tested?

A) So I know. Once I know, I will know. I get why people delay getting tested for the BRCA mutation when they’ve had it in their family . . . say you are told you have it, then what? Then you need to make some huge decisions. Personally, I’m in absolutely no rush to cut off any more body parts, but nevertheless, knowing one way or the other would be useful. I guess.

Q) Did I study biology?

A) Yeah . . . in highschool.

Zsolt was with me, holding my hand. He had also studied biology in high school. Therefore, everything seemed to make sense as the lovely consultant took out a binder and gave us a page-by-page presentation on how cells have chromosomes, and those chromosomes have two bits (like shoelaces have two bits that tie together) that spell out who we are and sometimes those genes can have a mutation. The more mutations, the worse off the cell . . . worse off, as in, cancerous.

Did you know that the BRCA gene is a GOOD thing? It PREVENTS tumours? And here I was thinking it was a bad old gene that caused a lotta trouble. Nope. Not at all. It’s when both dangly bits in the gene have that bad mutation (effectively stopping BRCA from killing weird cells) that things become a lot more risky.

Q) And have you considered the implications of this test? On your well-being, your treatment options, your life insurance [by the by, my life insurance is essentially shot – except I may already have some thanks to Mom and Dad – but otherwise ticking that box of ‘cancer’ on an application isn’t going to get me anywhere too quick. Mind you, the consultant did say that if I get this test and it comes back negative for the mutation, there are some Canadian life insurance companies that will take that into consideration. ]

A) Yes I have. (Well, kinda.) Please give me the test.

Well heck, like I said in a previous post – what am I going to do? Having already gotten sick once, I’d be crazy not to investigate further. And my well-being has already been challenged. Fact is things are as they are; knowing or not knowing isn’t going to change the way things are. Therefore, I choose to know.

Maybe that’s why Eve ate her juicy Red Delicious. She figured, hey, what’s the harm? And then – BAM – kicked outta paradise!

Ignorance is bliss to a large degree. Not knowing I had cancer was easier than knowing. But it certainly didn’t do me any favours. Sometimes (rarely) I imagine what it would have been like to have found my bump earlier. Would I still have a right breast? Would I have needed months of chemotherapy? Anyhow. I want to know – regardless of the possible difficult decisions that may or may not follow.

I have decided. Give me the test. I want to know.

(And in four months I’ll get the results. Talk about building the suspense.)

(OH! And good news for Zsolt and I, the test is covered by OHIP because I’m absurdly young for this disease. My ‘freak of nature’ status has worked in my favour this time. Fantastic.)

(One final thought. Please keep your fingers crossed that result come back negative: nothing found. I’d rather still wonder, “why the heck did I get cancer,” than know a BRCA mutation was at the root. Much rather.)

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6 thoughts on “BRCA testing and genetics

  1. Hey, good luck with the results & thanks for the explanation of the BRCA gene…..I am going to see a genetic counsellor tomorrow; didn’t expect that the results would take so long to come back tho……especially hard to swallow cos I’m waiting on my recon & ‘they’ won’t do it til the outcome of the genetics test/meeting is known.
    I’m like you tho – I’d rather know, especially as I have a year old so I’d like to know the implications (if any) for her.
    Once again, good luck.
    Love Chez. xx

  2. I’m keeping my fingers and a few toes crossed that you don’t have the BRCA mutation.

    I like your tobaggan story. I’ve never been on a tobaggan. I guess it must feel like body surfing on the waves in the ocean, except when you fall off, you don’t get salt water up your nose.

  3. Four months! That is quite the wait. I find it interesting how expensive the test is without insurance, it was explained to me that a drug company “owns” the gene because they discovered it. I have family history and mine came back negative, my fingers are crossed for you! It is good to know either way.

    • Totally agree, Mandi. I think there’s quite some debate on whether people can ‘own’ a gene, but in the meanwhile that company hauls in the cash. Luckily for me it was covered, otherwise it’d be a significant dent to my savings.

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