BRCA Testing Results and Next Steps

Today I received my results from my BRCA 1/2 testing. (You can read about why I chose to test for BRCA mutations here.)

It’s been a long few weeks waiting for my results, and honestly, I wasn’t sure what I wanted to hear today.

A large part of me wanted the test to be positive so I had an answer as to WHY. Why did these cancers run so rampant in my family? Why did it choose us? WHY? A positive result would mean I had a small answer. It meant I would have knowledge, options. A positive result would also scare me to death. It’s something that would increase my chances of developing breast or ovarian cancers by alarming amounts. It meant a greater chance I wouldn’t be around to see my children grow up, to grow old with my husband. It would mean my daughter and son have a 50/50 chance of inheriting this mutation from me. It didn’t, however, mean I would develop cancer one day. It would not be a death sentence.

The other part of me wanted the test to be negative. It would mean my chances of developing these cancers would stay around 15-25%, depending on the computer models. Still not the average odds, but they’d be less than if I carried the mutation. Part of me was more scared of a negative result than a positive one. A negative result wouldn’t mean I’ll never develop cancer. It would just mean that this particular mutation isn’t responsible for our family’s history with these diseases. There would be no explanation. No “why”. Just a shrug of the shoulders at nature and God. It would mean I’m still considered “above average risk”, just not “high risk”. It would mean years of accelerated screenings and waiting each time for results. It’s a very strange feeling to be scared of a negative result. It would be such an unknown. At least with a positive result, we would know. Of course, no test is 100% accurate, so even with a negative, there could be a positive, although the chances of that are extremely slim.

I never gave much thought to the third outcome: the so-called “genetic variant of uncertain significance”. It wouldn’t mean anything other than “hey, you have a mutation on this random gene, but we haven’t mapped what that gene does, so it could mean nothing, but it could mean something. We will tell you if we ever get this gene mapped and it turns out to be something.” It’s basically the same outcome as a negative result. We would test, we would wait.

It turned out my results were negative.

A very strange mix of emotions washed over me when I heard those words. Relief was one. Knowing my known risk factor will stay in the 20% range (based on three computer models run by my geneticist, which is still around double the general population risk) and not skyrocket into the high ranges is huge. Knowing I no longer have to worry that I’ve passed on this mutation to my children felt like a huge weight off of my shoulders. Knowing I don’t need to make a huge decision like whether or not I’ll have a prophylactic mastectomy is huge.

But it also left me a little scared? frustrated? (apparently these are completely normal thoughts, according to the geneticist and ones she’s had herself) With a positive result, we would have had answers and a clear plan. I like plans. I like having answers. I was prepared to go to battle. I’m not good with the unknown. A negative result leaves a lot of questions to be answered. Is there another hereditary issue at play here? Was it just nature’s way of being random? Why? I know it seems strange, from the outside, for someone to almost want (although “want” isn’t the correct word) a positive result. I know it’s a normal reaction and one that I’ll work through with time.

Because of my elevated risk factors, I’ll now be getting a mammogram yearly (and possibly MRI’s, if needed) at the specialized clinic at our cancer hospital. I know I’m in good hands. I know early detection is key. I am vigilant about self-exams, and I’ll be vigilant about making my appointments and showing up. It’s all I can do. Screen, exams, try to live a healthy lifestyle. Keep running. Eat right. In five years, they’ll redo my risk factor calculations and possibly more genetic testing if new discoveries are made. We test. We wait. Wash, rinse, repeat.

What I’m not looking forward to is the yearly worry. It’s easy to tell yourself a 20% risk means an 80% chance nothing will ever come of it, but when you’re at the clinic, getting tests, and waiting results, it’s a very different story. In the words of my sister-in-law (for whom I am so thankful to have in my life to chat about this with) “worry becomes your new normal.” And if it’s something that could potentially save my life and keep me around to see my baby’s babies? Well, then the worry is worth it. That’s what I have to keep telling myself.

Do I regret having the test done now that I have results that really don’t mean a whole lot? No. I am glad I did the testing, even if it does fill me with a little worry, deep down inside that wasn’t there before. The unknown does that to a person. Now I need to be focused and not let that little voice of worry outweigh the voice that knows I’m doing all I can.  I’m glad I did the research beforehand. I’m glad I had a good geneticist that walked me through everything.

What I want people to know is: this is not just a test you should do on a whim. You need to be prepared to make important, possibly life-changing, choices when you receive your results. It’s a heavy burden to carry the worry from results, no matter what they might be. This isn’t a test that should be taken lightly and I’m glad I had to jump through hoops, wait, and be walked through the process. I’m thankful for someone to talk to about my worries, relief, and fears. So if you’re considering getting BRCA mutation testing done, I applaud you for taking control of your life, but I also caution you to have the right support in place as you wait for results and after. It will make all the difference.

For now, I wait again. I wait for my first mammogram.

And while I wait, I remember to find the positives in the negative.

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  • Reply Jenn October 1, 2014 at 9:13 pm

    I’m sorry I missed this. All I can offer is good thoughts and hugs.

  • Reply wendy October 2, 2014 at 1:34 pm

    I can totally relate to wanting it to be positive because it might give you answers to the why. I tested negative in 2008 and again in 2013 (I retested as part of a clinical trial looking for more gene mutations). I did feel relief for my daughter’s sake but not knowing the WHY is still very hard to manage even this far out from my diagnosis. xo

  • Reply Melissa October 4, 2014 at 11:03 pm

    Hugs! Thinking of you…I can understand the frustration and worry but so glad you will all be on top of it.

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