When you think about the major tests you’ve taken in your life, which ones come to mind? Is it your driver’s license test(s), your ACT/SAT tests, a big test you aced, or failed, in high school or college? Or is it a test of the medical variety that comes to mind, such as a biopsy, bone scan or MRI?
I guess the title I chose for this post is an obvious give away about where it’s headed.
Since this week is National Hereditary Breast & Ovarian Cancer Awareness Week I thought it might be a good time for me to share about the day I learned I had “failed” my test for the BRCA2 gene mutation. As tests go, it wasn’t really all that major, but it sure felt like it at the time.
I remember that day well. There are so darn many of “those days” to remember. That day was another one of those “stand-out” days.
After my biopsy confirmed I did indeed have breast cancer, the next big piece of my particular cancer puzzle to figure out was my BRCA status. Since my mother had already tested positive for the mutated gene, the chances were 50/50 that I would as well. I was in the “thinking about getting tested” stage when cancer reared its ugly head speeding up the process for me. Cancer doesn’t allow you to think things over for too long.
I had to wait about two weeks for the test results to come back and of course, my oncologist was out of town during the week of their expected arrival. Feeling more than a bit impatient a day or two after that expected arrival date, I decided to call the clinic and unsuccessfully attempted to talk the nurse into giving me the results over the phone. She emphatically told me the results hadn’t arrived yet and I would have to wait until my scheduled appointment on Tuesday; that was Friday. I didn’t believe her for a minute. I knew the results were in and she was just following proper protocol and I told her so, but she “stuck to her guns.” More waiting.
After hanging up the phone that day, I realized on top of everything else, I had surely sounded cynical, desperate and probably more than a little annoying, but I didn’t care. I felt like I was quite literally fighting for my life.
On the following pleasant Tuesday in May 2010, hubby and I waited calmly in the exam room wondering about the next bomb shell. My oncologist slowly entered the room carrying the purple folder. If you’ve had the test, you know about the purple folder; at least it wasn’t pink.
Immediately I knew from his demeanor what the results were. Actually, I knew even before he entered the room. Some things you just know. Call it woman’s intuition, or whatever else you choose, I somehow knew what the results would be.
My hubby, my oncologist and I calmly looked at the white sticker that had been attached to my purple folder. There they were. The same words I had seen on my mother’s folder; positive for deleterious mutation. The same dreaded words in the same dark bold-faced black letters as if to further emphasize my doom.
Positive for Deleterious Mutation. I read the words over and over and all I could think of was that they sounded more like words to describe some serious mental illness. I hope that doesn’t sound offensive to anyone who has suffered from mental illness. If they do, I apologize.
We weren’t surprised, or at least hubby and I were not. We were becoming more accustomed to hearing bad news. However seeing the words written down and then stated out loud, somehow amplified their power and significance.
The results were in and they were conclusive, not even “suspicious.”
My genes were tainted. It was time to fine-tune our plan of attack.
More on that later.
What’s a test you failed?
Do you believe in intuition?
Have you had genetic testing or counseling?
Related posts:
- Monopolies, Rulings and Controversies on BRCA1 and BRCA2 Patents Last November I was contacted by...
- Who Should Undergo Genetic Testing for BRCA1 and BRCA2? Since my previous post on BRCA, I’ve been thinking...
- I Can’t Believe I Need an Oncologist! Three days after my mammogram last...
- Genetic Testing For BRCA Gene Mutations Four years ago I traveled to...







Beth L. Gainer
Wow, Nancy. Kudos to you for being such a strong self-advocate! You did the right thing by taking this test, and by failing it, you could be proactive.
I’m sorry, though, that you failed it. It must’ve been a crushing blow.
Yes, I believe in intuition. It was intuition that helped me save my life twice (of course, maybe I’m like a cat, so I have maybe 7 lives left!). The first time was when I found my own cancer, and the second time was when I got a prophylactic double mastectomy, against the advice of some physicians. Some laughed at me, but a biopsy revealed that my supposedly healthy breast was filled with precancerous cells.
I hope my intuition doesn’t start failing me. How many times can one get lucky?
Nancy
Beth, Well, I didn’t really feel like a strong advocate at the time that’s for sure. I kind of felt like I had been backed into a corner and had to get tested. It was a blow, but I was totally expecting the positive results. I can’t believe some of your doctors laughed at you; that’s just wrong. I’m glad you went with your gut and made the right decisions for you. And look at the advocate you have become not only for yourself, but for others as well! Thanks for your thoughts, Beth. And keep going with that intuition, it’s served you well so far hasn’t it? Although, I hope you don’t need it for anything big for a long time.
Cancerfree2b
Nancy,
What a great post! Thank you for sharing this. I look forward to hearing about how you “fine tuned your attack”.
I do believe in intuition. And like Beth, intuition saved me at least once, perhaps twice during this whole cancer rollercoaster (first in getting diagnosed and second in firing my first oncologist).
My worry now is that the daily pain that I have is altering my intuitive abilities . . . the fear of a recurrence is something that I think about often. I don’t know what to make of the daily pain that I have. I have brought it to the attention of my docs and initially it lead them to repeatedly scan me. But, now it is seen as just pain (since, fortunately, my scans all came back NED).
Anyway, thank you for sharing your story of your BRCA testing. I am sorry that you tested positive (funny way of saying it, isn’t it? Positive?).
I really do look forward to hearing about how you altered your plan of attack after learning of your BRCA positive status (that is when and if you feel like sharing).
I hope you have a great rest of the week, this one sure has gone by fast for me!
All the best,
Lisa
Nancy
Lisa, I’m sorry you have so much pain. I have a fair amount of discomfort myself. Like you, I’ve been scanned and so far mine have come back NED too. Thank goodness! I’m glad your intuition served you so well. And twice, that’s amazing! I will be sharing about the fine tuning at some point. Thanks for your interest. And thanks so much for sharing your thoughts. Does your family have a history of cancer, Lisa?
Suzzann Cummings
Wow, what you’ve shared with us is so important and powerful! As I mentioned, I am struggling with the testing for a number of reasons. It’s ironic that I’m reading about this topic today since I just had this said conversation with a very good friend of mine last night, who is also an oncology nurse. Such is the reason I’m attending a seminar next month on genetic testing/counseling. Maybe I can put some of the “I’m a failure” demons to bed. As far as test results, 1 in particular stands out in my mind, my pathology results which stated- “poor prognosis”…Kudos to you for doing this test and for sharing this with all of us. Thank you!
Suzzann~ (aka-the ostrich w/her head in the sand)
Nancy
Suzzann, Thanks so much for your honest comments. I’m glad this post came at a good time for you and attending that seminar will surely help you sort things out. These are big decisions and it’s all about timing isn’t it? My timing turned out to be not all that great, but… And, you are not an ostrich with her head in the sand!! Very funny! Let me know what you decide!
Jacki Donaldson
What’s a test you failed? My first driver’s test! I hit a cone while doing some weaving exercise.
Do you believe in intuition? Yep. I am mostly guided by my gut with most medical decisions. If it doesn’t feel right, it usually isn’t, like when one doc told me I *needed* Taxol/Taxotere but I truly believed with every fiber of my being that I didn’t. Now, this was backed by research, too. Crazy twist of fate landed me with a new oncologist, who looked at my chart and told me, “I don’t think you need Taxol!” Aha, I knew it. And now, 7 years later, I am fine — w/o having had the drug.
Have you had genetic testing or counseling? Yes, and I did not test positive for any mutation.
Nancy
Jacki, Ha! I don’t think you are alone in not passing your driver’s test on the first try! Another thumbs up on the intuition question; that’s very interesting to me. Good for you for making the decision you felt was best for you. Sometimes it can be really tough to go against the status quo. So glad you are doing well seven years out and I’m glad you tested negative. One less thing to worry about. Thanks so much for your comments, Jacki.
Katherine OBrien
Hi Nancy
Thanks for sharing your story. Very timely and important!
As my first meeting with my surgeon was winding down, she asked if I had any more questions.
I told her I was Jewish. That coupled with my family history (mom had IBC and died in 1983) got me sent over for the BRCA test posthaste.
Ashkenazi (Eastern European) Jews are 10 times more likely to have mutations in BRCA1 and BRCA 2 genes than the general population. Approximately 2.65 percent of the Ashkenazi Jewish population has a mutation in these genes, while only 0.2 percent of the general population carries these mutations.
I am not a carrier for the BRCA1/2 mutations. (Guess I’ll have to check back when more are discovered…)
As a reminder and for those who might not know, having an abnormal BRCA1 or BRCA2 gene doesn’t mean you will be diagnosed with breast cancer: seven percent of breast cancers in Ashkenazi women are caused by alterations in BRCA1 and BRCA2 (See http://www.genome.gov/10000507.)
Nancy
Katherine, It’s kind of funny isn’t it, you’re Jewish and tested negative and I’m not Jewish and tested positive. So much for statistics! Seriously though, the statistics are important and you make a good point about the Ashkenazi Jewish population being at greater risk for carrying these mutated genes, especially brca1 as I understand it. Also, just because you test positive for the gene, doesn’t mean you WILL get cancer, but it does greatly increase your odds. Thanks very much for your comments, Katherine. Is there a pattern of hereditay breast cancer in your family, or has it just been you and your mom? Although that’s certainly enough.
Kathi@The Accidental Amazon
Re-posting, Nancy. xxxxx
Nancy
Thank you, Kathi. I appreciate it.
Susan Beausang
Indeed, thank you for sharing Nancy. Reading your recollection of that day and experience brought up memories.
In my case, I had wanted to undergo testing for years, but it took me years of pushing to get my siblings to agree. When I finally succeeded in convincing them, we all underwent testing together, I felt a sense of accomplishment and relief in simply getting that far. All but 2 of us tested positive for BRCA2. For me, that knowledge felt empowering. I felt like I could finally see the ghost in the room. Ugly ghost for sure.
Thanks for writing this.
Susan
Nancy
Susan, I’m wondering now how many siblings you have. You bring up an important point about how not everyone, even in the same family, wants to know this information. It’s all about personal choices. Also, I know what you mean about feeling empowered, although I didn’t feel that way at first. I like your description of the ugly ghost in the room! It’s perfect. Thanks for adding to this discussion, Susan.
Caitlin
Thanks for your post on your experience being tested for the BRCA mutation. It really resonated with me. 3 years ago (a few months after my Dad died, though, while I inherited the mutation from him, he did not die from cancer) I tested positive for Lynch syndrome, the “deleterious mutation” linked to colon, endometrial, and lots of other cancers. I had a similar reaction to “deleterious mutation” (though my notification was over the phone! I guess being out of state gives them no choice?) and it’s been sort of a lonely road, so I just wanted to say thank you for your post. It made me feel less lonely about a very stressful process, though our deleterious mutations are not the same beasts.
Nancy
Caitlin, Thank you so much for commenting here and for sharing your personal experience. I’m sorry about your dad. You’re right, the road can feel lonely, but thanks to some changes, it’s no longer necessary to keep quiet about our personal genetic findings. That change is huge. Like you said, even though our mutations are not the same, sharing about them helps. I’m glad you feel less alone. So do I. That’s the whole point of all this sharing isn’t it?
valerie
Nancy – thanks for sharing your story. I had my mother (she had breast cancer, along with an aunt and cousin) tested for BRCA – negative – “family history is suggestive of an inherited breast cancer susceptibility”. I do believe in intuition. As I was considering preventative masectomies I randomly came in contact with three ladies (I never brought up breast cancer – they did), one that was battling breast cancer, one that was an oncologist nurse working with breast cancer patients and the other who’s breast cancer was found when having a reduction. Three stories that were told to me as I was deciding whether to have masectomies or take Tamoxifen. I felt I couldn’t ingnore their stories (promptings) and in May 2010 I chose to have masectomies for my diagnosis of ALH. I feel I made the right choice. It was brave of you to get tested!!
Nancy
Valerie, Thank you very much for adding your voice to this discussion. It sounds like you do have some strong family history there, “susceptibility,” as you called it. I’m sure there are more yet to be discovered genetic links; another reason we need further research. I’m glad you are comfortable with your decsions. Good for you. Thanks for calling me brave; I’m not.
Dianne Duffy
When I got my results it was the day before my double mastectomy was scheduled.
I was not surprised. Every woman in my family has died of breast or ovarian cancer. EVERY one…
I had known I would get breast cancer since I was 16 and found my grandmother’s death certificate in my dad’s desk. I was told as a child she died of pneumonia, but the death certificate told the real story. And then I knew – I was next.
The day I got my results just proved to the doctor what I had been saying all along (and they were not believing). And so the doctor finally agreed to give me a double. Ten days later I had the ovaries removed.
I kind of think of it as one of those curses from the Bible, the ones pronounced on your children and your children’s children. And I wonder what someone did so long ago that brought this curse upon so many of us…
Thanks for writing. Always thought provoking.
Nancy
Dianne, Wow, I cannot believe there have been that many women in your family affected by cancer. I’m so sorry. And what a sad story about your grandmother and the deception surrounding her cause of death. Based on your family history, it’s really surprising your doctor was so difficult to convince regarding your risk. Good for you for being such a self-advocate. I don’t believe in curses, but I certainly understand how you feel. Thanks for sharing your compelling comments.
Dianne Duffy
Nancy,
The policy of my health plan at the time was to ask if any sisters, aunts or your mother had been diagnosed with cancer. But I have no sisters, nor does my dad. My mom is not from the affected side of the family. I am the only girl left, besides a couple of third cousins.
They have since changes the policy to include more than two direct family members.
I even have an uncle that had breast cancer…
Nancy
Dianne, Thank you for providing more insight into your family history. It’s staggering the number of cases in your family. You raise an important point. Men do get breast cancer too. I’m glad some things have changed policy wise. Thanks for sharing.
Katherine OBrien
Hi Nancy I don’t know of any other women in my family with BC. Mine is considered sporadic.
Nancy
Katherine, Thank you for the info, I was really curious.
Teal Toes
Getting tested is more important now than ever (if you already have breast or ovarian cancer) because there are new therapies for which it seems to matter.
If you tested negative years ago, it might be time to visit a genetic counselor again. My family’s gene (on my non-Jewish side) was only found 6 years ago. It was considered suspected until we have more members of my family tested (all who have tested have had it) so we got it changed.
You CAN get it from your father (who could have gotten it from his father and so on) so it is possible to have a woman be diagnosed with cancer and to have BRCA even if she has no breast or ovarian cancer in her familial line.
Nancy
Teal Toes, Thank you so much for commenting. I knew sometimes it can’t be determined if a mutation exists for sure, but I didn’t realize you could go back and get retested and have the status changed. Thanks for the information. And you’re so right about the father’s side being very important to look at too.
BreastCancerSisterhood.com
Not only do I remember my test results, I had to fight to get the test in the first place! “You don’t have any family history,” my doctor said. “No reason to suspect you’ll test positive.” No reason other than my little voice that’s never steered me wrong.
Yes, I had the test, and yes, I’m BRCA2+ to which my doctor said, “Wish we’d known that earlier.” Duh…. No kidding!
Listen to your little voice!
Nancy
Brenda, I’m so glad you listened to your little voice! There’s a lesson there for sure.
The Big C and Me
My results were handled very poorly. No genetic counseling before or after. My Internist’s office handled the test. The nurse that drew my blood didn’t even know what the BRCA gene was. They all acted like I was having this really weird test that no one had ever heard of before.
My blood got delayed getting sent out and after 3 weeks, I had to hunt it down in Utah. I was in my Internist’s office for my BMX pre-op (he was on vacation and a physician I didn’t know was filling in) when I got the results… She was looking at the computer and just blurted out, “I see you’re BRCA negative.”
Yes, I was relieved. But her casual attitude was very off putting. (I blogged about it in my “Pre-Op Road Trip” post).
From what I’ve heard, I am in the minority with how casually my test was handled. In the end, since I was negative, there was really no harm done. But it did piss me off!
-Renn
Nancy
Renn, Your testing experience was really handled poorly! Wow! Actually, the person who drew my blood had no idea either… The delay and cavalier attitude of those directly involved with your testing is simply unacceptable, especially the person on the computer blurting out the results. I don’t blame you for being pissed off! Thanks for sharing!
Stacey
Thanks for sharing that day with us, Nancy. I know it’s hard to write these memories, but I think those of us going through this really need to hear from others, what it’s truly like.
Like you, I met with a counselor and had the test after my biopsy came back positive. Despite my family history, I saw no point in being tested prior to my diagnosis. Either it would happen or not. I was never thinking along the lines of prophylatic surgery (then!). While waiting for the results, which I assumed would be positive, I debated a bilateral mastectomy vs. lumpectomy. Figuring if I was BRCA positive, the choice was made for me. I’d take the surgery and be aggressive. When my results were, surprisingly, negative, I had new issues. I was being told my risk of recurrence was lower and lumpectomy was suggested. In the end, I opted for the bilateral. I wanted no regrets.
Being BRCA negative didn’t make me feel any better. I still considered my genes screwed up and still do. I think now, anyone with a family history of the disease should be tested. It is good to know. It puts the power in our hands to possibly change something. Great topic!
Nancy
Stacey, It’s interesting to me you felt there was no need to get tested prior to diagnosis even with your family history. I try not to beat myself up about not getting tested earlier; hearing your thoughts makes me feel better about that. Like you, I was told I could consider a lumpectomy if my test came back negative, so in some ways a positive result made the desision for the bilateral a whole lot easier. I admire you for having the guts to have the bilateral despite testing negative. I think you made the right decision. Thank you for adding to the discussion here, Stacey.
Beth L. Gainer
Hi Nancy,
Yes, that feeling of being backed into a corner is a familiar one to me. I think that sometimes being an advocate involves going through a lot of difficult experiences, but going through with whatever needs to be done anyway.
I call myself an advocate, but I have experienced the desire to run away from it all, and I have felt backed into a corner so many times. I’m glad you did the right thing!
Nancy
Beth, Thanks for your additional comments. I think we’ve all wanted to run away at one time or another, trouble is, things still “catch up” with you, so running doesn’t really solve anything anyway.
Jan Hasak
Nancy, great post about testing. I can’t even imagine what it was like to receive the results you did. I was recently tested for something very private and shameful (not due to my behavior), and fortunately was negative. I also got tested for BRCA-1/2 and again was negative. I guess I could say I did not pass the test when both my biopsies came out positive for breast cancer and my lymphedema was diagnosed. I do believe in intuition; mine is very strong, and as a result I’m in a better place now, freer and more ready than ever to take on new challenges. Thanks as always for sharing your story.
XOXO,
Jan
Nancy
Jan, I guess we all have tests in our lives of various types don’t we? I’m sorry you had to have one recently you felt so uncomfortable about, but I’m glad it was negative. It seems many of us do believe in intuition and use it as a guide. I’m glad you are feeling ready to take on all that lies ahead for you. I know you’ll be just fine. Thanks for your comments.
Jody Schoger
Nancy,
This is an amazing post. Your line about “deleterious mutation” is classic.
I am curious though about the distinction between BRAC 1 and BRAC2 and what additional steps (removal of ovaries?) are recommended. I trust you’ll be writing about these?
Thanks for sharing this,
Jody
Nancy
Jody, Thank you for reading and commenting. As far as I can remember the two are both variations or mutations of two specific genes. Everyone has these two genes, but people like me have a mutation which does not allow the gene to properly do its job. As far as the ovaries, yes, I blogged about that in an earlier post this past spring if you’re interested. Many women who test positive are encouraged to have their ovaries removed at some point. I chose to do so as well.
Meagan
Thanks for sharing your story. I found out 8 years ago, when I was 26, that I inherited the BRCA 2 mutation. It was a terrifying time. Testing was somewhat new and it felt like no one had even heard of this. Within a 3 year time period, my Mom and 3 of her sisters were diagnosed with breast cancer. Their doctors suggested a family study. In 8 years, there has not been a day I haven’t had this looming in my mind. I know that I must make some difficult decisions in the very near future.
Nancy
Meagan, Thank you so much for sharing about your situation here. It is all overwhelming at times isn’t it? I’m sorry your mom and her three sisters have been diagnosed. I understand your worries and know it’s a difficult thing to have this always looming in your mind. I’m sure you will ultimately make decsions that are right for you. Get informed and trust your instincts. Keep me posted on what you decide. Good luck.
Amy
I too failed! I tested positive for the BRCA2 mutations in January after my mother was diagnosed with breast cancer 1 year earlier. My mom, my grandmother, my grandmother’s twin sister, and my great grandmother all had breast cancer with my grandmother being the only one who died from it. My grandmother’s other sister died from pancreatic cancer and I know that I am now at higher risk for that, albeit much lower risk than breast and ovarian cancer. I am at the stage of deciding what, if any preventative measures to take. I am glad I know, but I hate the decisions that I now have to make.
My testing was ok. I met with a genetic counselor and given my history, I was not surprised to get the results, but I actually had a felting moment of “maybe I tested negative” when the counselor showed up at my appointment with out the NP that she had stated would be there if I tested positive. I don’t think that the implications of the results settled in until a while after I got my results. I was on a 2 mile run one night and started crying in the middle of it. Now it’s something I keep thinking about. I will make a decision, soon, but only after I feel comfortable with doing my research.
Nancy
Amy, I’m sorry you did indeed test positive. It’s a lot to absorb isn’t it? The decisions you make from here on out are really big ones, but remember they are yours and yours alone to make. Good luck as you think things through. Keep me posted on what you decide and thanks for sharing about this personal issue.