Wednesday, April 18, 2012

Getting On With It

We just got back this evening from a quick trip to the Hunter Valley; just Mom, Dad, Grace, and me. The Hunter is a wine-growing region about 2 hours out of Sydney, and it is beautiful. In spite of it raining off and on, we had a great time. We took the "tourist route" to get there, which was a windy, two-lane road through tiny towns with names like "Bucketty" and wombat crossings. Oh--and this, at a roadside sculpture garden:
Australia is known for its massive bull ants, and this cheeky interpretation caused me to pull over, do a U-turn, and go back so we could get a photo.

In my last post, I mentioned that I had some good news to share with y'all. Well, my sister scooped me and blogged about it first. But that's okay, as she's blogging everyday this month, and we all know how challenging it can be to come up with interesting content. And it's like I always say. If my cancer diagnosis and subsequent treatment can provide content for just one blog post, then it's all been worth it. That's what it's all about, after all. Did you know I always say that? Just kidding, Beck! Actually, please read Becky's post if you will...her description of all this is better than mine.

Two months ago, when we had our first post-op meeting with my surgeon, the one where we talked about chemo, he also mentioned the possibility of being screened to see if there was a genetic element involved in my cancer. Here's a super-quick, most likely flawed summation: there are two gene mutations that have been identified as having a major role in breast and ovarian cancers. Those mutations can occur in either the BRCA 1 or BRCA 2 genes. Researchers think that these genes are meant to serve some protective purpose against cancer. (I'm not sure I'm saying that correctly, but that's the gist.) Sometimes you might hear someone say they're getting screened to see if they "have the gene for breast cancer". What they mean is, they're being screened to see if they have the mutation in that gene that correlates with breast cancer. Most breast cancers (about 95%) are not related to BRCA1 or BRCA2. But if you have one of those gene mutations, it has serious implications for your likelihood of developing cancer.

Due to both Becky and me having breast cancer before the age of 40, my doctor passed my name on to the Familial Cancer Centre at a nearby major hospital. A week later, one of their genetic counsellors called me and took a family history, asking about cancers in our family, about aunts and uncles and siblings and grandparents. Based on the information I gave her over the phone, she asked if I could come in and meet with them face-to-face. Which Jason and I did the following week.

We talked at length with a genetic counsellor who walked us through cell reproduction, how cells with these mutations reproduce the same faults, again and again until it becomes likely that a tumor can develop. We looked over a family tree they'd drawn up, based on the information I'd given over the phone. We talked about statistics of cancer and cancer reoccurrence if the BRCA1 or BRCA2 mutations are present. She told me that, in their estimation, there was a "fair chance" that I could have the mutation. Did I want to be tested?, she asked. Not everyone wants to know. Yes, I said. I definitely wanted to know. As much as you can "know", anyway.

At this point, they are careful to manage your expectations of what this test means. There is no "negative", there is only "inconclusive". Inconclusive means that they could find no mutation in those two genes, but there could be something elsewhere that's contributing. The human genome is pretty big, after all. If the test is positive for the mutation, I could choose to be closely monitored and checked each year to try and catch any new developments in their earliest stages. Mammograms, breast MRIs and such. Or, I could opt to immediately have a bi-lateral mastectomy, removing all breast tissue. This is called "risk-reducing surgery". And eventually, I would need to look at having my ovaries removed as well. The counsellor asked me, if the test is positive, would surgery be something I'd consider? I think they just want to make sure that it doesn't come out of left field for people. I told her that surgery would certainly be on the table if it came to that.

Then, she called the lab to see if they could rush the results for me. You see, this initial testing usually takes 3-4 months to complete. The lab said they could do it in 3-4 weeks. Then I went to have some blood drawn and we went home. That was that. Well, except for the few weeks of wondering and waiting. Actually, it wasn't too terrible, the waiting. I was also waiting at that time for the Oncotype Dx test results--the one which predicted a recurrence score for this current cancer--and I was preoccupied with that. Actually, ha! Now that I see that written...okay, I was probably a bit stressed.

Last week, Mom and I took the kids to the park. I was backing the car into a parking spot when my phone buzzed with an incoming call. I recognized that it was the hospital, and answered it as I turned the car off. The counselor I'd spoken with a month ago was on the phone. My test results were in, she said. Could I come in first thing tomorrow morning to discuss the results?

And here is where, for the first time that month, that I got nervous about the genetic stuff. I'd known they wouldn't give me the results over the phone either way, but the fact that they were squeezing me in so quickly gave me pause. Pulling the kids' scooters and helmets out of the back of the car, I scheduled the appointment.

Well, you already know it was good news. Jason and I got there the next morning, and our counsellor walked us back to meet with the geneticist, who'd been away during our first appointment. I had one final flutter when the counsellor said, "I wanted you to meet with the doctor, because I know you'll have a lot of questions." "Holy crap," I thought, "That means positive." But then she said, "I think you'll be pleased with the results." The test was inconclusive, meaning that no mutations were found on BRAC1 or BRAC2. Simply put, that means that I go on with treatment as planned, that I don't immediately need to consider surgery, and that I don't need to start thinking about what this means for Ava and Grace, for Becky and Laura, and for my mom.

The doctor did encourage me to stay in touch with them--to let them know of any changes in our family history, and to come see them in 10 years or so, when my girls are older. She said that when there are advances in either research or technique they often re-test samples, and that they would contact me if they ever found anything. She was encouraging, but also very clear: they know only so much about how genetics plays into cancer. There could be a BRCA3 that they haven't found yet.

But I'm not worried. Truly, I'm not. That doesn't mean that I'm convinced there's no chance of a genetic component at play. It's more that I feel...what else can we do? We've done all we know to do, and now I just need to have my treatment and get on with things. The way I see it, it was completely providential that this cancer was found when it was--another year easily could've gone by. And I feel like I will know things when I need to know them. Is that an over-simplification? Definitely. But it is working for me. I'm in good hands.


  1. That's great! And yes you are in good hands because thankfully we don't get to pick the number of our days, God does. So now you get to enjoy your test results and take care of yourself and enjoy your sweet family. :)

  2. Very well written and explained , Amy! I feel like we've had a double dose of good news with your test results. God's grace abounds! It abounds in every aspect of our lives. It has been wonderful to be here with you, Jason, Ava, Nate, and Gracie. Seeing Australia has been marvelous! But just being in the house with all of you and sharing your lives has been the best part. Love you.

  3. Yes, I agree with your feeling of what else can we do. I generally use strong language to describe this feeling. But yes, I have done and am doing absolutely everything I know to do. And that leads to a somewhat peaceful feeling.

  4. I knew that this was good news when I first heard, but I didn't really understand all the ways in which it is good news for your family -- the girls especially -- until I read your post and Becky's post. Thanks for all the 'splainin! And, yay!