I get to keep my boobs!

Today was the big day, aka Genetic Test Results day and there is No Mutation Detected!

That's some girlfriends and I jumping because we're silly -
we can say for this blogs purpose we're jumping for joy!

 Anywho, so because my Aunt has yet to test for the mutation, I'm technically an uninformed negative.  Because of the family history, until my Aunt tests also for the BRCA mutations we don't know what the cause of the family cancer is.  If my Aunt tests negative, there is a likelihood, there is something undiscovered that created the pattern.  If she tests positive, there is a mutation and I am just not a carrier.

So the good news here is that my risk has dropped!  I was a 32.92% risk pre-testing (that calculated my risk for having a mutation and my other risk factors).  Now I am about a 24-25% risk (it'd be 23-24% if I didn't have big, full boobies).  So I no longer have a 1 in 3 chance, now it's only 1 in 5 (yes, if you are normal it's 1 in 8).

What this means for me is all state of mind really.  I still need an MRI in December, and an annual Mammo, and I'm still enrolled in the high risk program.  I'm not out of other treatment option woods yet either - but unless things change, I can keep my boobs:).  If you have never met me, you won't have any idea the amount of relief this gives me.  I really wanted to keep em all along!

Its funny, I really thought finding no mutation would be anti-climatic.  You know, the buildup of stress and tension and anxiety and then nothing really changes.  But the sense of relief today is so high!  I'll save the anxiety for my MRI in December:).

When dreams come true, it's not always a fairytale

A couple of weeks ago (just before my last 2 posts) I dreamt that I received a bill in the mail for my BRACAnaylysis before my Genetic Counselor and I met to follow up on my results.  In my dream, I received only a bill for the BRACAnalysis and not for the BRACAnalysis Rearrangement Test (BART).  Because BART is only performed when the BRACAnalysis is negative, I knew my results were a positive for 1 or 2. 

Well, today I received 2 bills from Myriad and haven't heard from my GC.  Fantastic!  I assumed.  Two bills, two tests.  Until I read them and realized the totals aren't what I discussed.  So with some further research (damn Type A personality) I learned that in April of this year the price for the Comprehensive BRACAnalysis was raised to $4,040.00.  Well, after totalling my bill it comes to $4,040.00 even.

And of course its Saturday, so if there is a BART bill coming in the mail, I won't see it for at least 48 hours.  Karma plays for the other team today.

A letter for my Genetic Counselor

Dear Genetic Counselor,

Thank you for taking the time out to meet with me a few weeks back to discuss my genetic testing options.  I feel like we had a great talk, and I left feeling great about going forward with the test, although I had other options.

NOW CALL ME BACK WITH MY RESULTS ALREADY!!!!!  THE SUSPENSE IS DRIVING ME BATTY!

Thanks again, I look forward to speaking with you soon.

Kimberly :)

Frick and Frack; BRAC and BART

"Frick and Frack" has become an English slang term used in two ways. One is to refer to two people so closely associated as to be indistinguishable; the other way is as a term of derision for any two people, on par with calling one person a "Bozo" or three people "Stooges".[1]

BRACAnalysis is the typical compBRAC (comprehensive BRCA analysis) test for people being tested without a known mutation in their family.  It's the test I knew I was having.  It costs approximately $3,400 at Myriad Labs, who is currently the only lab legally able in the USA to provide BRCA testing.  The comprehensive BRACAnalysis scans your DNA (Chromosome 17 and 13) for the 5 most largest and most common gene mutations. 

You can imagine my surprise when I spoke with Myriad Labs today and learned that two tests have been ordered to thoroughly exam the threads that make me uniquely me:  BRAC and BART.

BART or the BRACAnalysis Rearrangement Test as it is officially called, is a second genetic assessment for some high risk women who's BRACAnalysis comes back negative.  BART looks for additional arrangements of my DNA within those two mutations that may also lead to an increased risk for BC.  In order to qualify for a date with BART one must:

1) {come} from families with an inherited pattern of cancer but no identified mutation, and 2) whose family history meets certain criteria, and 3) whose initial testing produced a result of either “no mutation detected,” “genetic variant of uncertain significance,” or “genetic variant, favor polymorphism.” [2]

If you are considering the Comprehensive BRACAnalysis please keep in mind that BART, while extremely similar to her sister BRAC, is a different test that a.  comes after a negative result in BRAC, and b.  costs additionally.  Based upon my personal out of pocket for the second test, I'm assuming in the $600 range.

[1] Source:  Wikipedia
[2] Source:  Facing Our Risk for Cancer Empowered (FORCE)