Sunday, February 7, 2010

Taper Gene Girl

(Note: no taper-leg jeans were worn in the making of this blog post.  I just really like the Kings of Leon.)

During my first appointment with Dr. Rosenbaum Smith, my breast surgeon and the self-described "captain of the ship," she advised me to make an appointment with their in-house genetic counselor, so that I could be tested for the breast cancer gene.

Her reasons for suggesting this were three-fold: one, my young age is reason enough to get tested; two, the results could help guide surgery decisions (i.e. if I have the gene, I almost certainly would go for a double mastectomy as a preventative measure from developing cancer in the left breast); and three, the results could have implications for other members of my family.

When we made the appointment, they gave us a little "workbook" to fill out with detailed questions about my family history.  This was helpful because Mom and Dad had some time to make some calls to make sure we had as much accurate information as possible.

With regards to breast cancer, and cancer in general, I have very little family history.  My paternal grandmother had breast cancer, as did one of my Mom's cousins.  My father was diagnosed with prostate cancer 10 years ago (he is fine today, although he is currently in a clinical trial to keep those pesky increasing PSA readings at bay).  Other than that, to our knowledge, no one else in our family has had any kind of cancer.

The session with the genetic counselor was very interesting.  First, she asked us a lot of questions about our family history. Then, she explained the background of the breast cancer gene, how common it is and what the implications are if I have it.

The known breast cancer genes are called BRCA1 and BRCA2.  Everyone has them, but in some people, the genes are mutated, putting them at a higher risk for developing breast cancer.  The genetic counselor said that people with these mutated genes have a 50% or more risk of developing breast cancer in their lifetime.  Scary.  And there is even evidence that these mutated genes can also have implications for not only a higher risk of breast cancer but also ovarian cancer and possibly other cancers.

This is why you sometimes hear about people who have the mutated gene but are cancer-free, who get a double mastectomy as a preventative measure.  Without knowing the facts, I always thought this seemed like an extreme measure, but these preventative surgeries can reduce your risk of developing breast cancer by up to 95%, so that is pretty powerful.  Still, having the mutated gene is pretty rare; only about 1% of the general population has it.

I also always thought breast cancer could only be passed down from the maternal side, so I always thought that the fact that my paternal grandmother had it did not have any implications for me.  It turns out that that is not true: both men and women can be carriers of the mutated gene and can therefore pass it on to their children.

Following our session with the genetic counselor, I had blood drawn for testing.  There is only one lab in the country - called Myriad - that does this testing, so my blood was sent there.

About a week later, the genetic counselor called me with good news: I had tested negative for BRCA1 and BRCA2.  However, this intial test does NOT test for certain deletions in DNA code that can also indicate the mutated gene, meaning there was still a 3% chance that I could have the mutated gene.

Insurance covered the initial test, but does not cover the follow-up test, so I had to decide if I wanted to pay to go for the second test.  After thinking it over, I thought that I would feel just terrible if God forbid, a few years down the line my sister, my mother, or one of my aunts or cousins developed breast cancer, was tested for the mutated gene and was found to have it.  And if I had the follow-up test then and was found to have it, their fight could have potentially been prevented.

So, I decided to go for the follow-up test.  On Friday, the genetic counselor called me with more good news: I had tested negative again.  This means that I definitely do not have BRCA1 or BRCA2.  Whew!

Now, this does not mean that my cancer did not come about as a result of some mutated genes I have.  BRCA1 and BRCA2 were only discovered around 1995 or so, and there is still a lot of research being done.  It's very likely that there is a BRCA3 and maybe even a BRCA4 that just haven't been discovered yet.

No one really knows why a 31-year-old like myself without the mutated genes (that we know about) can develop breast cancer.  But I have not spent much time on the "why me" question.  Cancer does not play by the rules, and it doesn't care who it picks on.  So, I don't see much point in dwelling on it, because truthfully, it won't get me anywhere.  I just have to work with what I've been dealt, and right now, that means focusing on beating this and getting healthy!


11 comments:

  1. So glad to hear the second test came back with good news! Another mini-battle fought and won!

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  2. Great blog so far Emily...I love the site; I was able to link it to my My.Yahoo page so I get instant updates all day like news feeds...I am sad to see however, that needle sticks are beating boob flashes right now, hopefully we can turn that around in the next few days...

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  3. scary.... that's what I thought 32 years ago,testicular tumour, Debbie was pregnant, we were still in college and no jobs!our wedding was scheduled for November 25 and the 2nd surgery included chemo - 2 weeks before,well i didn't start losing hair until about 15 years ago and I'm the only male in my family that still has any, and the fact that our family and friends were the best you could possible have as a support group made all of the differencxe in the world- I know you have the family and friends to see you though this chapter in your life - keep the faith
    dave

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  4. Best of luck tomorrow on the first step to getting rid the beast! I know you have to go through it to get out of it but starting tomorrow the treatment process begins. Unfortunately the needle stick count is going to go up a bit......I'll be there with you in spirit and Mom said she'll call with an update. I wonder if they'll bring Mom and Dad the big comfy recliners like they gave me last week! Like I said before, that hospital has the best staff!

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  5. Emily, you dont know me, yet anyway, but I am a friend of Trish's and I work at CSC, in Charolotte, NC. She was kind enough to give me your link. Honey, let me tell you its all about the attitude....BIG ATTITUDE!!! from the quick overview sounds like you have some really GOOD doctors. Very impressed that they did a MUGA..lots of them don't. Oh, yea, forgot to tell you, I am a SURVIVOR of BC myself...1st time 1984 2nd time 2005, but hey it was 21 years, and what a difference it has made. First time around I did the wig thing..had several but back then wigs were 'instyle' you could buy them at K-Mart. This last time, I went with HATS...so much more fun..did scraves too. some really cool ones. I can tell you IT IS BEATABLE!!!!!!!!!
    Put your faith in the Lord and he will walk you thru and give you such a calmness, you will end up being the comforter and the comforted. You will make so many friends at the hospital and at therophy. I will check back in a day or so. If you need any thing or want to know anything let me know. It really helps to have someone to talk to who has walked that walk and knows all those mixed up feelings. Put a 'B; on one shoe and a "C" on the other and then stomp around. YOu will be stomping out the cancer. We dont give it a "C", it does not deserve it. It is just a little bump in the road. Loving Wishes. Sharon Mann

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  6. Good luck tomorrow. My thoughts and prayers will be with you and your family all day. I'll be interested in seeing how many needle pricks will be added after your treatment.

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  7. EM! I'll be thiking of you all day tomorrow. Call me if you need anything! love ya, woman!

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  9. Hi Emily - Thanks so much for your postings and keeping us all updated. I am sending positive thoughts your way from Atlanta. Hope today's nasty weather up there doesn't interfere with your treatment today. Stay strong!!

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  10. Hi Emily......thank you....thank you for being so calm & candid....your attitude...is what HEALS !!!!!......as I read your Blog.."I AM GOING TO BEAT THIS CANCER BEAST".is heard loud and clear....I am joining you in your road to complete recovery....many many positive thoughts and prayers are being sent your way.......lots of love...AE

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  11. It must finally feel like you have been able to do something about what is happening to you. It must have been hard to constantly just sit and listen to everyone talking about you withouth being able to do anything. I am glad that you are through your first treatment. Every treatment gets you closer to beating this. Love and kisses. TM

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