Tag Archives: Genetic testing

BRCA genetic testing result

Posted in After treatment, Bumpboobs by

Well we have arrived, it is the end of another week. And this week was particularly interesting not only for having done some volunteering, seeing my (i.e. Facing Cancer Together’s) PSA advertisement hit the electronic news stands – see page 31 for me and my very white teeth, or trying to arrange a photo shoot (an attempt to describe my current state of hair may not have been so clear, as they kept asking me to bring along my wig), but also because this is the week of my BRCA results.

Genetic testing has been done. And I’ll get straight to the results, then talk about their meaning. Basically – for the two BRCA genes where they have identified a known mutation linked to high probabilities of cancer – I am A-Okay! No mutation. Everything works tick-a-dee-boo.

WooooHooo!!!

(Insert here the happy dance that Mom, Dad, Zsolt and I did this afternoon after sharing the news. Dad cranked up Depeche Mode’s Question of Time and made us all dance around the kitchen in celebration. And you are welcome do dance as well, if you’d like.)

So while the mystery of ‘why did you get cancer’ remains unsolved, I’ve nevertheless been spared this additional weight in my journey. What that means is I am lucky, very lucky, to not have to consider removing my ovaries and uterus due to high risk . . . and my left breast is also giving a sigh of relief.

None of this means I cannot be vigilant – checks, scans, tests must all be done regularly. After all, I did have cancer, and yeah, that doctor in the UK quoted me at fifty percent of a pizza . . .so yes, I need to remain on guard.

But I guess my chances of developing a second cancer are not drastically high. The genetic consultant did this lovely test for me where she calculated the likelihood of my developing a second cancer . . . she arrived at a life-time risk of 16%. But that is when I’m eighty. Right now, here in my thirties, it’s like from less than zero to one percent.  

They did, however, find a bizzaro mutation on my BRCA1 gene that cannot be identified. Generally speaking, they feel it’s not pathogenic (i.e. not cancer causing) but they cannot be positive. This means that every three or five years, I’m meant to call into the clinic and check to see whether that particularly (currently mystery) mutation  has been linked to cancer. Hopefully it becomes confirm as ‘not a bad thing’ as the gene is further investigated.

Honestly, I am thankful to not be identified as having hereditary breast cancer. I am thankful for myself, and my body/baby related choices, but also for my mother, my cousins, my family, and – hopefully – my future children. I am very, very thankful.

People who are diagnosed with the messed up BRCA genes live incredible lives beyond cancer (or even without cancer!) – think about Terri from a Fresh Chapter, for instance. But nevertheless that’s a heavy slice of knowledge about a body that could potentially turn on you. (Of course this is the case for everyone, not to be too ‘doom and gloom’, but imagine having a doctor say, “there’s a 80% chance you’ll get cancer if you don’t remove those breasts.) I cannot speak for their journeys, but I do know they are journeying despite a certain monkey on the back, and that in itself is hugely admirable.

Anyhow, today was a relief and I am thankful, very thankful. It’s such good news . . . I don’t want to boast, but it’s such very, very good news.

And for today, that is all I’ll write about that.

BRCA and Queen Victoria

Posted in After treatment, Bumpboobs by

This morning I was productive. Some days this can happen. I woke up early, tided the house, ran on the elliptical, ate breakfast and went to the post office. Along with a stack of Christmas cards (almost entirely addressed to friends in England) I mailed an envelope to my local children’s hospital. Really, having just typed this, it would be great if I could follow that sentence with ‘and it had a huge donation inside’ but that would be a lie. So what was inside?

Nothing to do with children, or at least not directly.

Last September when I went to visit Dr Canada he again suggested I get tested for the BRCA gene. This is genetic testing that basically explores whether or not you’re body is predisposed to get breast cancer. Maybe there are similar tests for various cancers? I’m not sure. But if there are, I bet all your doctors have suggested a similar investigation once diagnosed.

Hmm. I wasn’t entirely sold on the necessity of genetic profiling my life. No one in my family has had cancer. No one. Period. That’s all. But then Dr Canada says, “well, no one in the royal family had haemophilia until Queen Victoria introduced it.” Turns out the Queen who had insisted the disease hadn’t come from her side of the family, was in fact the carrier.

Some people say her side of the family, the  Coburgs, were cursed by a monk in the early nintheenth century. This monk envied  the Coburg prince and his excessively rich Hungarian bride. So he cursed the family. (“Bam! You are cursed!”)

Other people say the haemophilia may have derived from mutation in Queen Victoria’s genes or her father’s sperm.

Okay – enough with the history.

My point, or rather, Dr Canada’s point was that there is always a beginning. For the sake of future generations (and possibly current ones, but I really think not) it may be good to know whether I carry this stupid gene.  Mind you, having BRCA doesn’t mean you’ll absolutely get cancer. It just ups your chances to like 80% or something.

Anyhow, I digress.  So he prescribed this test. The genetics department sent along a family history questionnaire to my house. My family history literally comprises itself of NO cancer. But I filled out the papers regardless.

And now it’s in the mail on the way to the local children’s hospital. I guess if I have children it would be nice to know whether they’re at risk. And also, if I do have this gene (highly doubtful) than that will leave me with the not-fun decisions to :

1) Remove my other breast?

2) Get ride of the ovaries?

3) Say bye-bye to my uterus?

Boo for any of these three possibilities. And boo for having to consider these wonderful parts of my body as threats. Boo (since I’m booing) for cancer, too, cause it’s blows chunks!

But nevertheless I have submitted the test, thus proving that while I don’t want to worry, I nevertheless worry.

Curiosity killed the cat, or had her remove her ovaries . . . or maybe it didn’t kill her. Maybe it saves her life? Well crap, I don’t know. I’m just doing my best!   (You know what, I don’t really even love cats. They make me sneeze & wheeze like crazy. So whatever that cat does with curiosity, she can leave me out of it.)

P.S. The family had compromised. We will get a tree from a tree farm on Friday. Thanks for your votes – it got Dad to sway and me to wait (but only a little bit, and in the meanwhile we put up lights on the house. Too bad half of them are burnt out, but once they’re in place it’s such a pain to go back up and remove the duds. So we have some lights and some duds, but all good intention. It’s uniquely Brunelle.)  And Daniel is making cinnamon buns AS I TYPE. Okay, so that extra bit has nothing to do with anything, but hey: CINNAMON BUNS. Ah, I’m already drooling.