Unanswered questions for the women we love

It’s natural for us to want answers to everything but in some cases, it is impossible to search and seek the knowledge that we yearn for and get all of the answers we need. I for one, absolutely hate surprises and if I had a crystal ball that could tell me, “pick door #1,” life would be a hell of a lot easier. But for some reason, life isn’t supposed to be easy and sometimes we just have to remember that what is behind door #1, might lead to something much better and that surprises could actually be the start to a new beginning.

 

A lot of gray

In the world of BRCA, I like to live more of a life of black and white with a little bit of gray, but in reality, there is A LOT of gray. Gray is a very in color right now so I guess this isn’t such a bad thing if we were talking about style…but we aren’t. When I first found out about my BRCA status I wanted someone to say, “Okay Allison, at age X you need to do this and at age Y you need to do this.” But no one says that. It’s all about statistics and letting you figure out what you are comfortable with. The truth of the matter is, the science is way ahead of us and the doctors and studies are still trying to catch up with the genetics in order to make the necessary recommendations. So, all us BRCA people are left in this grayish, murky area making many of the decisions on are own.

I am very lucky, in comparison, however, because I have a confirmed answer. I know, with 100% certainty that I am BRCA1 +.  Not everyone has that luxury.  95% of the population will have a confirmed, yes or no answer, but 5% of the population will get a test result back that says “inconclusive” versus my deleterious mutation. What an inclusive result means is that, at this time, a mutation was actually found on the BRCA1/2 gene(s) however it was not known to be cancer causing. The hope is that there will be ongoing research in this field in the future and that in the next couple of years those with “inconclusive” results will be notified as to whether or not their test results will remain “inclusive,” become deleterious or negative for a cancer causing mutation.

 

Ashleigh’s gray area

I have been fortunate enough to have met and had the honor of becoming such close friends with a young woman named Ashleigh over the past year. While Ashleigh and I have only known each other for a short while now, I feel like I have known her my whole life and can honestly say I know that we will be friends for a lifetime.

Ashleigh and I met starting our MBA’s at the Johns Hopkins University. She became aware of my BRCA status early on in our friendship during breast cancer awareness month (October) when I invited her to a benefit I was co-hosting for Bright Pink, a BRCA organization that I volunteer with. When I mentioned it to her she said, “I think I might have that!” nonchalantly and while we didn’t discuss it much then, we had many follow-up conversations over a several month period. Over time, I learned that Ashleigh’s mother passed away in her early 40s from breast cancer and that nearly all of the women on her mother’s side of the family had had either breast or ovarian cancer at one point in their lives, all at very early ages. It had also appeared that Ashleigh aunt had already tested positive for the BRCA gene and was trying to persuade Ashleigh to test herself. Her previous comment to me, “I think I may have that” had A LOT of validity.

My passion for testing and my knowledge of my results came across to Ashleigh. While I did not know if it would necessarily be right for Ashleigh to test, I gave her both the FORCE website and the Bright Pink website and told her pretty much all the information I could. When Ashleigh made the decision to go with her aunt to Baltimore to see a genetic counselor, I was so proud of her! (According to the counselor, Ashleigh was also more knowledgeable than the typical counselee so I hope I helped by at least pointing Ashleigh to the right resources.)

Ashleigh told me at a BBQ recently that the main reason that she decided to test was because of a comment that I made, and have made in a previous blog: had my mother known her status, she would still be here today. She didn’t need her ovaries. She was finished childbearing and could have had them removed. However she didn’t know. Ashleigh’s mother did not know her BRCA status either. She could have had her breasts removed and maybe she would still be here too. It is my honest belief that the more women that get tested, the less cancer and motherless children there will be out there in this world.

Ashleigh with her mother

It is also my belief that our mothers did not have the some opportunity that we have today… but this is what they left us. I thank them immensely for it because it will let me save future generations as well.

So Ashleigh went ahead and made the hard decision to get tested and unfortunately, or fortunately, depending upon how you look at it, she is lumped in with the very rare 5% of women who receive inconclusive results.

 

What does the inconclusive mean for surveillance?

Before Ashleigh, I had never met someone with an inconclusive result. When she called and told me her result, I was so in shock I didn’t even know what to say. I remember Ashleigh saying, “I just wish it was a positive. That way I would know. Then I would know what to do.” And in a way this is true because an inconclusive in just that: the lab, Myriad which runs the BRCA test is not able to say whether or not, to full scientific certainty, if Ashleigh’s genes have a BRCA mutation. The hope is that in the future, as more people get tested and more research is conducted, she could be tested again and that inconclusive could be changed to a confirmed positive or negative. In the meantime, an inconclusive in treated like a positive test result.  Ashleigh will undergo all of the same surveillance testing that I go through however it is not recommended/stressed that she go through any prophylactic surgeries.

 

My “glass half full” point of view”:

So, I will try and take the “half-glass full” perspective here eventhough I could not be more ticked off her. I will first start off by saying that I am just so mad because I really just  wanted Ashleigh to get her answer and the fact she doesn’t makes me feel so angry and so helpless in so many ways. By again, this really could be a blessing in disguise.  The reason I say that is because, from the research that I have gathered, Ashleigh is now going to be treated as if she is positive or the BRCA1/2 mutation(s) even though she is really negative. In a way that stinks because of all the intense screenings, however Ashleigh was high-risk anyways so she should have been doing them and now she is going to be even higher on her doctors radar lists meaning they will take extra good care of her. Also, many high-risk women opt not to do all of the screenings because they are so time consuming (BRCA+ also) and it is my guess that Ashleigh will now actually consider doing these screenings whereas she might not have done them before. So it is possible that she might  be in better care now that she would have before.

This, however, does not take into the account the not knowing part and this is the portion that I am having a really difficult time addressing. The not really knowing, in my opinion is the most difficult and probably the hardest part that Ashleigh will have to overcome. Is her mutation cancer causing or not? Is the screening she is doing going to be worth it or not?

To put it in some sort of perspective, nothing is ever 100%. I might know for certaintly that I am BRCA+ but I don’t really know if I am/was going to get cancer. My mother had ovarian cancer and I am chopping off my breasts in December because I think it will save my life, but again, I don’t know if I was supose to get breast cancer- just that the odds were really really high. Was I going to get breast cancer or ovarian cancer, both or neither? It’s all a guessing game, or a game of craps. I just didn’t want to play and that is what testing for BRCA is all about.

Ashleigh, I adore you. You are an amazingly strong person and because of you and your test result, in the future, there will be less inconclusive’s out there in the world. I hope that soon your test result gets a definitive diagnosis and thank you so much for letting me share your story.

XOXO

Allison

Advertisements

2 Comments

Filed under Uncategorized

2 responses to “Unanswered questions for the women we love

  1. Allison,

    I am really enjoying your blog and I am sorry we didn’t have the time to talk more during the FORCE conference. Perhaps next year.

    And yes, the VUS results are maddening. But on the positive side the international consortium of researchers who are trying to sort this out is making progress. I sat next to a woman at the conference who had her VUS reclassified just last week. I hope Ashleigh gets some certainty soon too. In the meantime, surveillance, surveillance, surveillance.

    Joi

  2. Sherill

    My mom and I both tested negative for BRCA1,2.
    She was just diagnosed with her 4th breast cancer. It has now metastasized to one lymph node. She had a bilateral mastectomy in the late 80’s! I have had three surgical masses removed…all benign. Life is filled with worry…all the time.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s