Monday, June 17, 2013

Cancer Bombs: The Old Blood Sings

[Note: The first of this series can be found here. All previous (and subsequent) installments of this series can be found here.]



The Geneticists sent me a letter.

Okay, it was from one genetic counselor, Mary, rehashing everything we’d gone over in the intake meeting.

Everything.

My referring doctor... my family history of cancer... the definition of cancer... the explanation of hereditary breast and ovarian cancer... my personal risk assessment... my eligibility and decision to proceed with genetic testing... the advantages and disadvantages to genetic testing, and what the results mean...

I love this letter. It’s three jam-packed pages of awesome.

It’s like Mary anticipated my brain would explode the moment I walked out her door and wouldn’t remember a word she’d said. She’s sort of right—it was an overwhelming day, after all.

What she sent is a form letter with my personal details added in, underlined and italicized. Standard practice with genetic counseling patients, I'd assume (I'm going to guess the counselors expect that everybody's brain explodes after such a heavy meeting).

Here’re two of my favourite parts:

Your family history of cancer includes your paternal aunt diagnosed with bilateral breast cancer at 42 and at 60. On your maternal side, your mother had breast cancer at 41 and 53, and sadly passed away at 55. Your uncle had lung cancer at 65, and his son had testicular cancer at 33. Your grandmother had cancer at 33 and passed away at 46, and her sister had breast cancer in her eighties. Your grandfather had a sister who died of an unknown type of cancer in her eighties. Your grandfather’s mother died of liver cancer at 56.
And:

Based on your reported family history of cancer, we would consider there to be a high chance of an inherited form of breast/ovarian cancer in your mother’s family and a moderate chance of an inherited form of breast cancer in your father’s family. The factors that increase the risk include women with bilateral breast cancer and younger ages of diagnosis.

Believe it or not, it makes me giddy to read this. No, not for any morbid humour reason, I’m not laughing. It's goddamn tragic.

I’m giddy because it is validating.

Even without a blood test to tell me, this letter is a professional’s opinion substantiating what I’ve always known: I’d be winning the big prize.

Now to find out what the genes foretold, written in black and white the red of a blood sample.

Mary’s letter stated that it could take several months before results would be available, and I would be contacted to make an appointment to receive the results in person. Since I had given my sample on October 31st 2011, I settled in to patiently wait, figuring it’d be the end of January 2012 before I’d know anything concrete.

Imagine my shock when they wanted to see me mid-December.





December 14th, 2011.

I woke up the morning of the results appointment, donned my lucky Tai’shar Manetheren shirt, hoping I’d hear that the old blood sings (it’s a Wheel of Time thing), asked some friends to send positive (heh) vibes my way, and hit the road.

Alone.

Yes. Mr Lannis and I had weighed it carefully. He wanted to accompany me to this appointment, but was running low on vacation days at work. I had a good rapport with Mary, and was confident I’d be fine.

The biggest factor, though, was that I was determined I wasn’t going to hear anything I didn’t already know.

He wavered. I insisted. He caved.

(Read: so don’t harp on him for not being supportive, dude has earned all his necessary spousal-support points into the next millennium. Trust.)

It was simultaneously the longest and shortest drive to that hospital I’ve ever had, and traffic had nothing to do with it.

On the way there, I weighed what I wanted to hear. I was certain I’d be either positive for a gene mutation or negative with unknown variants.

There was no way I’d be negative for genetic mutation...

According to Mary’s letter, a negative result meant The Geneticists were,
unable to find a mutation in the BRCA1 or BRCA2 genes. More accurately, this is referred to as an inconclusive test result. This result could mean (1) there is no mutation in the family, (2) the person tested did not inherit the family mutation, or (3) there are other gene mutations that are not detected by the test. It is not possible for us to exclude the risk of cancer with any negative test result.

What does this mean, exactly?

This means NOTHING. Like, you’re probably still a walking time bomb based on family history, but The Geneticists can’t tell you either way, and there’s nothing to do but wait until one day you explode.

Again, I knew my result wouldn’t be plain negative. Why? My gut told me so. That’s all I’ve got.

The universe has force fed me enough shit sandwiches in my lifetime, and I’ve choked them down, indigestion and all. There was no way this would be one of them, because that would be unfair. Yes, I realize this sounds naïve.

On that drive to the hospital, though, something happened. (Bear with me, I'm aware that I sound all hippy dippy trippy when I recount this.)

Out of nowhere I had an answer to a question that used to bug me. A lot.

The question being: Why no girls?

When I was pregnant with my oldest child, Mr Lannis and I found out via ultrasound that we were likely carrying a boy.

The news had rocked me, and not in a good way. I’d always expected to have girls, even though I knew there was no picking and choosing (see? Not entirely naïve). Growing up, I’d had no male siblings. My male cousins were younger. I didn’t know what to do with a son. How do you raise boys?! No clue.

The word terrified is too understated to describe my trepidations... (Of course I realize in hindsight everyone has their qualms in pregnancy—especially their first—and this just happened to be mine.) 



I latched onto that announcement and it truly took the last four months of pregnancy to wrap my brain around the idea of possibly birthing a son. With my second pregnancy, we didn’t find out the gender of our child, and I was far more open to the idea of another boy.

But Mr Lannis and I had decided two was enough, and a part of my heart grieved that we would bear no girls. In the end, of course, I quickly got over it—I love my boys and am not ashamed to have them know I grew up dreaming of daughters. It's only a fact of what was, after all. I’ve never for a second wanted to trade my boys, and I love them even more because they surprise me all the more.

Also? I love Lego and trains, and quite frankly, wouldn’t’ve wanted to play with Barbies anyway.

So. Back to the December 2011 and my drive to receive my genetic results. On this drive, out of nowhere I received an answer as to why I wasn’t given girls...

And I say I received this answer because I had the overwhelming sense that this was not my thought. It came from somewhere, and I don’t know where, but it wasn’t mine. It was shoved into my head abruptly, and dominated all other thought processes. (For the record: not exactly what you want to happen while driving.)

While wondering what result I would have (positive for the genetic mutation, or negative with unknown variants), I was overcome with the sense of other and this foreign conclusion that I had boys for a reason...

To break the cycle. 

To buy more time.

The only time I've ever had a similar experience with an intrusive thought from an outside source was when I was carrying my second son. About a week before his birth, I had the overpowering certainty that he would have the cord wrapped around his neck during delivery.

And he did.

(Thankfully everything was fine. But Mr Lannis and I both were intensely creeped out that I'd predicted it.)

Now, I'm not saying that those outside, otherworldly notions were a message from my mother, I'm just saying my mind did not create them. I'm pretty freaking grounded, after all. I subscribe to terminal realism, remember? But that's what makes the experience all the more intense—in no way would I normally believe such testimony from another, but to have had it occur in my own mind, well...

Feel free to heckle, I can only vouch for my own observations. I have no proof, nor do I carry more answers than anyone else walking this Earth.

It did not feel like me.

In response to this foreign certainty that I had had boys for a reason, my gut began screaming that my testing results would be negative with unknown variants. A positive result was completely off the table. It would take years before The Geneticists had anything more concrete on what my children are possibly carrying, but luckily by having boys I had bought them that time...

For boys, as we know, do not develop mammary cells in the same abundance as girls. Nor do they undergo the radical flux and surge of hormones every month from puberty to menopause. Genetic breast cancer is a risk for men, yes, but with not nearly the same numbers as that of women.

By the time I walked into Mary's office, my step was heavy with determination; I had steeled myself to hear the news I knew was coming. I desperately hoped to hear I was positive for the genetic mutation (because you were guaranteed the most choice in proactive care), but I was resigned to hear that I was negative with unknown variants in my genes.

Mary didn’t seem surprised to see I was alone, and we zipped through the chit chat. Then she pulled out my molecular genetics report, and told me what I already knew...

My results were negative with unknown variants.

My BRCA2 gene looks nothing like a "healthy" BRCA2 gene, nor does it match the patterns that have been proven to cause cancer.

It has some creative oddities to it (duplicate, missing, or repeated code). These oddities aren't recognized nor have been researched by The Geneticists—which means they can't weigh in as to whether these particular oddities have any significance in causing breast cancer. Maybe, maybe not...

I’m not going to lie: I bawled.

And not that pretty cry, either. No, this was the full on Ugly Cry.

Mary, very delicately, asked why I was crying, and I told her the truth: I had wanted desperately to be positive for the genetic mutation.

She stared at me.

I’m going to go out on a limb here and say she doesn’t often get people wanting to carry the cancer-causing mutation.

But see, this is terminal realism, right?

I want to be as proactive as possible.

I have kids. I have a husband.

I have a life I’m not yet finished living, and have plans to fill it to bursting with picnics, road trips, reading in the grass, showing Mr Lannis the Louvre, watching my boys marvel at fireworks, snorting drinks out of my nose, moments—fabulous, sundry, and everything in between.

I want to be proactive.

And a negative with unknown variants result left me... bereft of options.

High risk screening until the day when Crap Happened or The Geneticists determined my particular gene variant oddities are a cause of breast cancer. This meant a black hole spiral of a moment in Mary’s office, where in a few fleeting seconds I witnessed a lifetime’s worth of everything worth living for spin out of my grasp, leaving me...

Bereft.

Mary assured me this was not the case. "Our genetics team is incredibly excited you're here, and are thrilled to have a chance to help you. We want you to be the first woman of three generations of your maternal grandmother's line to live past age 55."

I stared, overwhelmed with gratitude. To meet my grandchildren would be lovely, amazing, something others take for granted, but I crave it for myself and desperately!

But negative with unknown variants meant nothing...

Didn't it?

"What would you do to be proactive if you were given unlimited options?" she asked.

“Surgery.” The answer hung in the air before I realized I’d even said it out loud. It was the same reflexive response I'd had when I'd discovered the lump in 2009. “Remove the girls. Get rid of them. As soon as possible.”

Mary smiled. I would soon learn there were more options with my result than I’d previously realized. “We’ll see what we can do.”


[The next installment of this series can be found here.]

4 comments:

  1. Dammit, there's something in my eye again...

    ReplyDelete
  2. It just doesn't matter how many times I hear this story... It still gets me. Yo

    ReplyDelete
  3. EricisnotagiantsquidJune 18, 2013 at 7:11 PM

    Aplomb. This may be the first time I've ever had an opportunity to use this word. So. Aplomb, yeah, you got it. You rock with it. You roll with it. And I'm not even from Manetheren.

    ReplyDelete