Monday, November 16, 2009

The Results Are In...

Two weeks ago I participated in a high risk breast cancer study and had blood drawn to be tested for the Breast Cancer (BRCA) gene. Carrying this gene means a 84% lifetime risk of breast cancer and a 27% lifetime risk of ovarian cancer. My grandmother had the gene as does my mother. I had a 50/50 chance of also carrying the gene. After the blood draw, I went home and wrote a little bit about my feelings. Today I got the results back.

Within the first 10 minutes of meeting with the genetic counselor, I had to answer some rather personal questions. She wanted to know about my boobs and ovaries obviously. But she also wanted to know about my preferred method of birth control, my future family, my relationship with my husband, my diet and exercise "regime", my favorite NPR podcasts and so forth.

Then she wanted to know more about Booker and Teichert. And suddenly I was really bothered. Like tears welling up and fists clenching bothered. Why had my boys suddenly entered this discussion? They are 3 and 1. And they do not have breasts and ovaries.

But there she was writing down their names and birth dates beneath mine. And there my mom was, crying like a baby... and looking like one too with her fuzzy white post-chemo head. I wanted to reach across the table, grab that pen and cross their names out. They are babies and they are boys and this has nothing to do with them.

But of course, it has everything to do with them. Because I have potentially given them something even worse than my boring brown eyes. And then I understand why my mom is crying now and why she was crying six months ago when she told me she was BRCA 2 positive.

Deep down in my DNA sits one mutated gene among thousands of normal, functioning genes. That gene has a name and a destiny- to potentially spawn a deadly form of breast and/or ovarian cancer. And this gene doesn't discriminate.

It didn't care that my grandma couldn't attend my mom's wedding because she was too sick from cancer treatment. It didn't care that my mom's plate was already crowded with other serious physical, mental and emotional challenges before she got her diagnosis. And it certainly doesn't care that I'm happy, young and want to use my ovaries and breasts to grow a large and healthy family.

Nope, this gene affects the whole family- men and women, young and old, Japanese and not. But the good news is that at least I know about it. My grandmother died from breast cancer, my mother will beat it and, God willing, I'll never have to face it because I know and I will be prepared...

But that's the future and this is now. And right now, I'm sitting in an office with a genetic counselor eager to fulfill the counseling part of her duty and my eyes are watering even though I promised myself I wouldn't cry (who cries over tiny microscopic genes?! SUCK IT UP). She tells me I ought to write a "love letter" to my mom and even though I laughed at the idea at the time, I'm going to give it a shot:

Dear Mom,
Remember when I was in 6th grade and kinda tubby and you brought home a maternity dress and suggested I wear it to my first school dance?
I forgive you.
Remember when you completely forgot my 22nd birthday?
I forgive you.
Remember when I had that baby cut out of my abdomen and you came and stayed in my 400 square foot apartment for 4 weeks to "help"?
I forgive... I mean, thank you.
Remember when I was an embryo and you gave me that gene that means I have a pretty good chance of getting breast cancer?
I forgive you. And to be honest, it never occurred to me that you would require any sort of forgiveness. But when I think of my own children the guilt I feel is enormous and surprising. And I find myself begging for their forgiveness because of this gene even though they are young and they are boys. So I understand why you cried about this and I want you to know that I forgive you even though it feels silly to do so and pray that my children can do the same, because that does not feel silly to me at all.
Your Genetically Mutated Daughter

Even though today was a super crappy day, there was some humor to be found.

When the genetic counselor walked in today, she asked my mom and me what we thought the results were. We both thought it would be negative. I'm healthy, I'm lucky, why not...

GC: Margaret, I'm sorry to say that the results are actually positive.
Me: (not telling what happened here, it may have involved some blubbering)
GC: I'm so sorry, here are the results from the lab.
(hands me the paper)
GC: There's your patient number, your birth date, the name of the gene we tested and the results.
Me: But I wasn't born on December 16th, my birthday is on Halloween.
GC: Holy sh*t.

GC: These aren't your results.

(I would like to insert at this point that the genetic counselor may have used some profanities and freaked out a little bit but she really was quite professional and awesome about the whole thing. I probably would have sworn too. Sometimes these things happen :)

GC: I've been doing this for 20 years and this has never happened. I'm a complete a**hole. I've got your results on my computer back in my office which is in the building next door. Want to take a walk?

So we walked for what felt like an hour to her office where I was told, for the second time, that I do in fact carry the gene. Bummer. Double bummer.

And then I told my siblings...

Ring ring
Marie: MARGARET, did you get the results?
Me: Yes and the results were bad.
Marie: Oh, so do you have the gene?
Me: Marie, there's really only one good result and one bad result. I have the bad one.
Marie: So you have the gene?
Me: Yes. Not having it would have been the good result.

Ring Ring
Me: Oh hey David
David: What are we doing for dinner?
Me: I dunno, I'm in Salt Lake. Don't you remember what I'm doing today?
David: Um, taking someone's photos?
Me: No, I'm getting the genetic screening results back.
David: So are you going to die of breast cancer? (his exact words)
Me: Nope, not if I (and annual mammograms + MRIs + possibly prophylactic surgeries) have anything to do with it.

Anyways, it's been a long and emotional day. Thankfully, I'm young and don't have to make any big decisions soon. For now I'm going to eat some pumpkin cheesecake and pack up the car to go back home... to my husband who loves my breasts- mutations and all.


Diane said...

I'm so sorry. Go home to Clark safely.

Petra said...

Oh, Margie, I'm so sorry. By way of (not-really) consolation, can I point out that you have awesome breasts? Just think of all the women who go through the trauma of having the gene AND crappy little A-cups!

Kelly said...

wow. Im so sorry. This is a crazy story. So what exactly does this mean? Just that you can know about the cancer early? Does this you have cancer or just that you need to watch for symptoms? this is so crazy. I am so sorry. But you really are an AMAZING writer! I love reading you blog.

Margaret Proffitt said...

Whoa, just to be clear- I DON'T HAVE CANCER! :) I just have a much higher risk of getting cancer, especially as I get older. For now, I just have to be super vigilant about screening (mammos, MRI's and clinical exams every few months) and maybe when I'm done having kids I'll consider removing my breasts and ovaries to bring that 87% risk down to essentially 0%. I didn't mean to alarm anyone.

Layla said...

Margaret, I worked really hard to hold back my tears while reading this post. You are one incredible lady. I'm sorry that you have to live with that fear for the rest of your life, but knowing is power and I have no doubt you will overcome this gene.

Amelia said...

Grace and humour will carry you through many situations. Prayers for you and your family.

Marie Amara said...

As the genetic misfit in our family I was certain that it would have beem me and you would have been spared. Its not fair. And I can't get these words out of my head....from one of my favorite Neva Dinova songs...."i'm scratching my nuts right at God." With cleanched fists and teary eyes I've been pitifully shaking my fist at the heavens silently screaming "Noooooooooo" not that one...she's one of the good ones, not only my sister, but one of my fave five. Why? And then I remember that "Why" is not a spiritual question and that acceptance is the answer to all of our problems today. I'm still so sorry, and would have gladly shouldered all the crappy genes if it could have spared you and your perfect breasts. I love you.

Emily said...

Ok, I was already bawling when I read your post and THEN I read Marie's comment. I seriously needed that good cry today and you just amaze me. Your writing skills are incredible and I just really love you. I know you aren't the mushy type but seriously, I'm so glad you entered my life.

And Petra is right too.

And, get home safe.

Unknown said...

I agree with Hannah and Marie...PERFECT breasts. Breasts I have envied since we were 16. The thought of you possibly getting rid of them makes me sad.

Marge, take care of yourself and always remember that there's still that 13% chance. Love you!

Callie Proffitt Christiansen said...

You have great breasts yes, but I have great breasts too and they are totally fake. So, even if you cut you currently perfect breasts off you can still get a new pair of brand spanking new perfect breasts. Way to make it funny though. You are better at that then me.

Dan and Jan said...

Margaret, we love you with or without breasts, that is not who you are. So you have a greater chance of getting breast or ovarian cancer. The Proffitt family has a greater chance of skin cancer because of our own stupidity, not genetics. You know what you are looking for so you can make wise decisions, good for you. You are young, you are awesome, don't worry so much! And throw the motherly guilt out the window, it's not necessary.

sherry said...

I am so sorry you are dealing with this right now. At the same time, it is nice that we live in a time where you are aware at such a young age and you can do something about it. DOes this change your family plans at all?