Monday, August 4, 2014

BRCA Test Results & Belly Ninja Update (37 Wks + 3 Days)

Well, I finally did it. I had testing for the BRCA 1 & 2 genes done. It's been a long time coming. I did a pretty good job of ignoring the doctors' recommendations for long enough...and those of my step-mom (an oncology nurse) and those of my sister (who already had the testing done). The urging from all angles had reached it's max, and I figured I'd just stuck it up and bite the bullet.

You may have heard of this testing because of the publicity it received when Angelina Jolie recently hacked off her boobies after testing positive. If you haven't heard of it, BRCA 1 & 2 are genes that have been linked to increased risks for certain cancers, namely breast and ovarian, but also pancreatic and prostate. Read more about it here...
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Basically, only 5-10% of cancers are considered to be hereditary through a genetic link. While this is a small %, for those who do carry a genetic link, risk of certain cancers increases dramatically. So, for those carrying the BRCA 1 or 2 gene, the risk of developing breast cancer is up to 87% in their lifetime. Compared to an only 8% risk occurring in those with no familial risk in the general population that's a pretty big difference! You can see how risk compares in the general population with those who have familial risks and those with known genetic mutations here... Risk Factor Comparison
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Because the risks are greatly increased for those carrying this gene, the recommendations for treatment in women who test positive can range from increased monitoring (u/s, MRI's), to taking risk reducing medications (like tamoxifen), to having prophylactic surgery (ie. removing both breasts, having ovaries removed, complete hysterectomy). This is one big reason I'd been putting it off...because we are kind of in the middle of our mission to procreate and I wasn't ready to say buh-bye to my lady parts quite yet. Plus, the recos all just seemed so unnatural and barbaric in a way. However, the more I've read about it, the more I can see the usefulness in having this testing done for those with a family history. Ignorance is not always bliss in the long run.

You should consider BRCA testing if...
  • A personal history of breast cancer at age 50 or younger
  • A personal history of triple negative breast cancer
  • A personal or family history of male breast cancer
  • A personal or family history of bilateral breast cancer (cancer in both breasts)
  • A personal history of ovarian cancer
  • A parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin diagnosed with breast cancer at age 45 or younger
  • A mother, sister, daughter, grandmother, granddaughter, aunt, niece or first cousin diagnosed with ovarian cancer
  • A family history of both breast and ovarian cancers on the same side of the family (either mother's or father's side of the family)
  • Ashkenazi Jewish heritage and a family history of breast or ovarian cancer

My mom was diagnosed with Stage IIIB ovarian cancer at age 45 and died at 52. Her aunt died from breast cancer at age 46. I am unsure of further familial history on that side, because although my mom had like ten siblings, she was adopted as a baby. Additionally, my mom did not have the BRCA testing done, which leaves a giant ?.  Since she didn't have genetic testing done, my sisters and I have no way of knowing if we carry either of the genes linked to these cancers (it's passed down). You can read more info. on the Komen website if you care to.

Another reason I decided to do it now is that we happen to have some pretty damn good insurance right now, although it's only temporarily being provided through COBRA.
Remember how my hubby got let go from his company of 9 years conveniently when I was newly preggo? Well, they at least covered our health insurance via COBRA through the birth of this baby. It was the least they could do if you ask me.  Hubby did get another job shortly after that (we thought everything was golden at that point!) but he was then let go again very soon after (Yep, complete asshats). Thankfully we never dropped our COBRA coverage. Phew!

Needless to say, there's no real source of income for us right now, but we are very blessed to have outstanding health coverage through Sept. 30th....$0 deductible, 100% maternity coverage, etc. So, I figured I better take advantage of awesome insurance while we have it! The BRACAnalysis is not cheap. It runs roughly $4000+, but as I stalk my claims online, it looks like our insurer is going to cover it 100%. Say a prayer that this pending claim turns green sometime this century please. I'm checking daily, and I think it should go through!

C'mon, turn green!

I'm really glad I had the testing done, especially because (drumroll please)...

In the clear! woo hoo!

I was found to have NO MUTATIONS for BRCA 1 & 2!!! When we got the call, I put the phone on speaker so hubby could hear the results alongside me. I cried tears of joy (which I did not expect at all) but they just bursted out.  I think in that moment, I was just thinking of everything my mom went through in her 7 years of ovarian cancer treatment. I am grateful that I won't have to make any hard decisions regarding removal of my reproductive organs now, or even after having kiddos. Realistically, this negative result does not guarantee I won't get cancer like both of my parents, but it does remove the greatly increased risks that would have been present if I did have the BRCA gene(s).

It's moments like those that help keep what's important in life in perspective. Hubby may be out of a job right now. We haven't really known how we're going to live, where we're going to live, etc. since February. Will we have to move? Will we make it out alive financially before we blow through our savings and lose our benefits? We've had to change a lot about the way we live our day-to-day. But, in the whole scheme of things, those "problems" just pale so much in comparison to the fact that we're both healthy, happy, and expecting a miracle in our lives any day now. There is nothing, and I mean NOTHING, more important than our health and the love that we share. Period!

And on an even brighter note, we got to see the belly ninja today. Even though we are seeing our OB weekly now, and they are performing BPP's (biophysical profile u/s) weekly, this may be our last official growth scan. It was one of my favorite apts. of this entire pregnancy.

During the BPP, they check for breathing, movement, responsiveness, and amniotic fluid levels. They like to see baby practice breathing at least once during the test. Babies tend to practice breathing about 30 sec. at a time during this stage. Preston was breathing steadily the entire test and did not stop once. This didn't surprise me, because I can see/feel him breathing all the time these days. I can literally watch his back going up and down through my belly. It's pretty surreal. Amniotic fluid looked excellent, and he was moving all over the entire test. He scored 8 out of 8 and passed with flying colors.

As far as growth goes, we were asked yet again "Um, has this baby been measuring big?" Yep, he's a fatty! I pressed the u/s tech on how much these u/s measurements can be off, and she was adamant that they usually guess within 1/2 lb from what she's seen (not the 2 lb. differential I hear many moms speaking of). So the head scratcher from what moms say vs. what all the medical professionals say continues. Only time will tell, but as of today he's supposedly already weighing 7 lb. 11 oz. and his head is in the 97th percentile of growth. He's in the 77th % of growth overall and is measuring 38 wks + 4 days (8 days ahead).

One thing we all agreed on is that most of the weight must be in his cute chubby cheeks. We saw him yawning a few times and opening his eyes...firsts for us. It's just amazing to see him maturing right before our eyes. I can tell he's really getting ready to meet us here in the real world. We are so in love and can't wait to meet him!

= hb @ 173 bpm (moving around A LOT!)
             = scored 8 out of 8 on biophysical profile u/s
             = head down and low on mom's bladder
             = measuring 38 wks + 4 days
             = weighs 7 lbs. 11 oz!

Mom = weight @ 158 (28 lbs. gained)
          = bp @ 118/76
          = 0% effaced, 0 cm dilated (cervix still closed tightly)


  1. Yay! I am so glad you tested and tested negative. What wonderful news. And damn that boy has some full lips and chubby cheeks. So stinkin' cute….I can't wait to meet him on your blog.

  2. Woohoo! I had that test done as well (my mom had breast cancer twice) and I was in the clear as well. It's a great feeling isn't it?

  3. What a relief. I'm glad the test came back negative. Preston looks so adorable. I'm praying that your husbands finds a job soon. I know god has a plan for you both.

  4. Oh my goodness, what incredible news! The courage you must have had to take those tests…. wow! I'm so happy for you!

    Did we know about the job loss though? Did I miss something? I'm SO sorry! This must be really overwhelming with Mr. Preston on the way! I love your perspective, but I'm sure it's not easy. Hoping a GREAT job comes through for your husband soon!

    1. Thanks Amanda. I did mention the job loss, as well as his new job afterwards, but don't think I mentioned he got let go AGAIN so shortly after from job #2. I haven't talked about it much, because I'm pretty sensitive to sounding like a whiner and crying poor to people. We've never ever asked for or received help from any family, and have just always made do with what we have. We will be fine, because we always are. We have lived off of nothing before, and we will make it work again! My mom used to always say, "God will provide!"

  5. I can't even stand how cute those cheeks are!! He's a little chubster and in my opinion there's nothing cuter.

    Hubby & I have been in a similar financial situation before. Twice before actually. And your right you have everything that's important. You will figure the money part out. You just will.


  6. This is such wonderful news on the test results, praise the Lord!!
    I am amazed by how you are handling job loss during this time. I can't even imagine but I do know I would feel that having each other and our health would be most important.
    Prayers for the perfect job to come along for your hubby and a safe delivery for baby Preston :) Big hugs to you!!

  7. Great news on the negative test! What a relief! And sending lots of prayers that your hubby finds work soon!

  8. Emily, I could not be happier that you made the decision to test and that the results are negative! Such a burden that's been lifted from your mind. I was so grateful that my mother decided to be tested for the BRCA gene when she was diagnosed. Her biggest worry was always for me. She also did not have the gene and I'm so glad that she had the peace of knowing that meant, most likely, neither do I.

    Preston seems to be comfy cozy and healthy as can be!! I can't believe we're in the month that you're going to meet that little man!! xoxo

    1. That's awesome your mom had the testing done. I am kind of surprised mine didn't, but I scoured her medical records for it and she certainly never mentioned it. So to the lab I went! It really is nice knowing one way or the other.

  9. OMG, I can't believe he's almost here! Time has FLOWN! Can't wait to see that precious face once he's here :)

  10. Wow Emily all honor and glory to God!! I am so glad you got it done in your own timing and that all turned out well. I know you want to have your heart free to dream of a future being there for you sweet baby in old age. God is faithful and will see you through all that you are going through. I am so sorry to hear about your hubby's work. I know how much stress it can be to lose and income. I know he will find something better.

    Preston is adorable. That face is just so smooshed and chubby. I have also heard about a lot of babies being smaller when they are born than predicted on u/s. My friends baby was predicted at 10lbs and was 7 at birth. Not sure it was just a bad tech but she wasn't the only one.

    Can't wait to see Preston when he arrives. Do you Instagram? I would love to follow you there.

    1. What a sweet encouragement. Thanks Charity! And no, sorry I don't instagram.

  11. Yay for being in the clear!! Love those baby photos!!!

  12. Wow, I can't believe you can actually see him breathing through your belly, that's so cool! Also, good for you for only gaining 28 pounds so far. Are you still working out?

    1. Well, I'm still at the gym moving 7 days a week, although I don't know if it qualifies as working out...walking on treadmill for 30 min. @ 2.5-3mph (only burning about 100 cal), sometimes a light strength training workout or two on weekends. Thanks though Erin! And yes, the breathing is pretty cool!

  13. yay its almost time! and congrats on good results!