Guilt

I know this isn't a logical emotion, I know I cannot control the health or happenchance for my friends or my family.  But today, I feel guilty.  I feel guilty for being healthy.  I feel guilty for having the opportunity to use genetic testing to find out my real risk, when so many other genetic cancers do not have access to the same technology.

In the aftermath of my own very good news (BRCA neg), I have learned that a dear friend of mine has Cervical Cancer.  Her family's history with cancer looks like what many BRCA pos women experience, mothers, grandmothers, aunts all plagued by the same disease.  So here she is 29, and headed in for a biopsy tomorrow.  A biopsy who's results could change her entire life, it will determine if she will ever be able to bear children or not, it will determine how much of her cervix they have to remove in order to get the cancer out.  The good news is she shouldn't have to undergo chemo, or radiation.  Just the surgery.

So today, I feel guilty.  I feel guilty for having the opportunity to celebrate the known risk of my life, when so few others in similar positions have the same opportunity.

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.

Do you ever have the feeling you're being followed?

I swear, between having blood drawn for the BRACAnalysis and waiting for the results, genetic testing has been following me.

A girlfriend is having it done to confirm paternity of her child.

A woman at work was tested for the BRCA after she had a pre-50 BC diagnosis.

Meredith Gray is being tested for the Alzheimer's Gene.

And it's October, so pink is everywhere.  I can't turn a corner, go into a store, read the news, or even go into a damned bar without seeing pink.  I suddenly understand pinkwashing.  But I'm not self-important enough to call October bad for my own sake.  Awareness is important, and breast cancer does not discriminate.  It hates all women equally, some of us are just more vulnerable victims.

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)

Post Testing: The "What if" factor is gone!

My appointment with the geneticist went great and I feel great!  I have decided to go forward with the test.  In a perfect world, my surviving relative would be tested, and if she were BRCA +, my father would be tested, and if he was also BRCA +, my sis and I would test.  In reality, my surviving relative and I don't speak, my father is retired, and I am still at risk. 

I had my mind made up for the most part before the appointment.  It was important to me to feel like I am doing something, anything, to fight my predisposition to cancer and to be proactive in staying cancer free.  By testing, if my results are an uninformed negative, my surveillance plan stays the same - the exact same as it is had I chosen not the test.  But I have gotten rid of the "what if" I tested factor.  I am taking a step, a step that I can control.

I also plan on using this, regardless of my results, to hopefully inform my cousins who may also be at risk.  I intend to reach out to them either way and share my results and why testing is important.  If there is a mutation in my family, even if I don't have it, it needs to be found so everyone is aware of their personal risk.

I also realized, and it was reinforced during my appointment, that I'm actually not afraid of being BRCA +.  I mean, don't get me wrong, I'd much rather be back at the point in my life where cancer wasn't something I worried about, but I am much more afraid of having an increased risk and not knowing.  If I know I have an elevated risk, like that with BRCA+ I have a calculated, identified risk with multiple (although not preferable) treatment options, for lack of a better word.

I'm also glad I did as much research as I did going in.  I felt confident in the process, my potential results, and how I would feel about the outcomes.  Now, for some people, research before the decision (the shirt before the shirt as they would say on Jersey Shore) may seem excessive and cause more concern.  For me, it was calming.  I believe that knowledge is power and the more I know, the better I feel.  Make sure, if you are approaching testing, you know how you typically problem solve and go about it the same way.  I'm glad I did.

I'm not sure what result I am hoping for, but I know I made the right decision for me and knew I had to test when the GC said to me:  "You know, some people find a certain amount of bliss in ignorance."  I immediately responded:  "I am not that person."  This is the best decision for me.

36 Hours and Counting

I'm 36 hours away from my appointment with the genetic counselor.  I've been reading and preparing for weeks and I can't come up with a single question to ask and I feel so unprepared.  I know I've read and researched a lot, and I mean a lot, since my NP called me on August 7th to recommend I make this appointment, but how do I of all people draw a blank?  I'm not a quiet person, especially not as a patient.  I am probably on the total opposite side of the spectrum, borderline obnoxious, when it comes to knowing everything, and I mean everything, a doctor is doing.  It's my health and body damn it and I will not apologize nor am I ashamed that I am a nosey patient.

So, why oh why, am I staring at a blank pad of paper, mind empty? 

According to the hospitals genetic center this is what I am to expect:

At the time of scheduling the appointment for the first visit, a second consult appointment will be schedule to review the test results. During the patients initial visit to the clinic, a genetic counselor will include a review of the personal and family medical history, a discussion of the role genes play in the development of cancer, and basic genetic concepts. A personalized risk assessment for hereditary cancer, a description of the genetic testing process, as well as information about cancer risk reduction and prevention strategies are discussed in detail. The family history is carefully assessed and the risk of carrying a mutation is determined and fully discussed.

Most health insurance plans pay for these tests, but not all do. We will help with the preauthorization process and determine the level of insurance coverage for testing. If you have an HMO insurance, it is your responsibility to obtain a referral for genetic testing prior to our ability to check with your insurance.

An appointment with the Cancer Genetics Program consists of a consult with both a genetic counselor and physician, and possibly a blood draw, if testing is pursued. There is no need to fast prior to the blood draw. The initial consult lasts around an hour to an hour and a half, depending on the questions that arise. Most, but not all, insurances cover the cost of this office visit.

Test results are available in two to five weeks (depending on the test(s) ordered). Results will be discussed in details at the follow up appointment (we give test results in person, and not over the telephone). We then have a thorough discussion about future management recommendations and risk reduction strategies, as well as family dynamics.

Ah well, here's to October 28th - ish!

Figuring it out

I've been talking this whole 'bidness' through with a friend (thanks) and have stumbled upon some Aha! moments that I want to share here.  Forgive them, because they've been cut and pasted from emails :)

About the test and my personal risk:  I am being tested for a gene mutation that could raise my risk up to 87%.  It is not a gene that causes breast cancer, it is a gene mutation that prevents my bodies natural resistance to tumor growth in my breast tissue.  There are unrecognized gene mutations that do the same thing as BRCA 1 or 2 that have been identified and have not been identified that also raise risk an unknown amount.  That is why an overall family history of cancer is important to a geneticist to study.  BC is also linked to ovarian, prostate and colon cancer.  I have prostate and colon cancer family history as well. 

It's not my risk that totally concerns me.  Clearly, I got my first mammo at 30 because of my risk.  Here's what unsettling, the reality of said risk.  Whether my risk is 33% or 67% or 87% (highest risk % available) my "surveillance" options are the same because risk is so difficult to manage.  Couple that with being 18 months from the age of cancer onset in my family and it creates a scary situation. If my Grandma had a mutation, my dad had a 50% chance of also getting it.  If he did, I have a 50% chance of getting it from him.  Right now, based on that alone I have a 25% chance of gaining the mutation - which is unrelated to my overall 33% risk assessment.

I'm not afraid I'm going to get BC and die tomorrow:  Truth be told, I have (in the back of my mind) always assumed I would get BC at some point in my life.  Am I afraid of death, as a general idea?  Yes, absolutely!  I'm way too cool to die, clearly:).  Will I die eventually, yes, obviously.  But let me make this clear, my frustration, emotions, nerves right now are maybe 2% because I think I'm going to get BC and die tomorrow, and 98% for the road there.

Surveillance:  While it's great that science allows us the opportunity to asses risk and catch cancerous growth quicker than ever before, it still has a long way to go when treating BC specifically.  Surveillance is the same whether my risk is 33% or 87%.  And prevention options are surveillance, early menopause, or a mastectomy.  The only difference, is someone with an 87% risk would also likely go through preventive chemotherapy.  Yup, that's right preventive chemo, Tamoxifen.

As you age, you expect to see more doctors, have more appointments, begin to worry about cancer etc.  Most women begin mammograms at 40 and everyone begins checking (or should) for colon cancer at age 50.  I'm only 30!  I thought at 30 I would have my usual annual exam plus a mammogram annually.  Now, I have my annual, then a mammogram 3 months later, than I meet with my NP for a clinical exam, then an MRI 3 months later, and on it goes.  It's a lot for a seemingly healthy 30 year old to go through.  It's a big change.  Most women my age don't have to actively worry and fight cancer.  And while I've known for about a month now that I do, it's been one month out of 30 years!

Why I'm doing so much research now instead of waiting for my results: 
I didn't research this extensively because I'm a worry wart.  I researched this because if I am positive for a mutation or have an elevated risk, I want to know what my answer to that problem is before it's my problem.  If my immediate response that day is:  cut off the girls, I want to make sure I thought that was an appropriate response when I doubted I would have to make that decision.  I also want to know what to expect either way.

And, I should say, that because of my recent research I have uncovered a whole community of women whose strength, and diligence, passion and compassion has inspired me and whose stories can be used as lessons across all problems in our lives.

Preparing for the Genetic Counselor

In 9 days I take a test that only has 3 results.  I remain at 33% chance of BC in my life time, I increase due to some mutation not related to the BRCA gene, or I have one of the BRCA gene mutations.

In cases in which a family has a history of breast and/or ovarian cancer and no known mutation in BRCA1 or BRCA2 has been previously identified, a negative test result is not informative. It is not possible to tell whether an individual has a harmful BRCA1 or BRCA2 mutation that was not detected by testing (a “false negative”) or whether the result is a true negative. In addition, it is possible for people to have a mutation in a gene other than BRCA1 or BRCA2 that increases their cancer risk but is not detectable by the test(s) used.  - from www.cancer.gov

The whole point of this test is to determine your risk level as accurately as possible so that you can take the correct preventive measures.  I don't want to get to cancer!  I am 18 months away from the beginning of my family history with breast cancer.  I want to stop it by any means necessary and if I have the opportunity to do so, I will.  Maybe that sounds severe or exaggerated but I wouldn't play Russian Roulette with a gun 1/3 filled either!

I know I could skip the test and continue routine surveillance, but that doesn't sound right for me (although I foresee a lifetime of it anyways).  A new doctor appointment every 3 months for the rest of my life spent waiting to hear:  You have breast cancer.  No thanks!  I don't want to detect it early, I don't want to get it and survive, I don't want treatment, chemo, radiation, I don't want cancer period.  I want to go back to the day that I only needed an annual mammogram. 

And as much as I don't want to wish BRCA on anyone, let alone myself, knowing I'll never be a true negative makes me want to be a positive.  I have an actual answer then, I have real numbers to work with, real risks, real outcomes, not hypotecticals based on a high risk.
*Exhale*  Back to my list of questions for my genetic counselor.

Feeling like an A!

I feel good today.  I went straight to the source and found out that my health insurance provider will cover 80% of the genetic testing!  Which means only a $640 expense to me, only!  Something about having this concrete information has helped me settle down a bit and I can honestly say I forgot about this 33% weight on my chest.  Okay so I haven't forgotten but I am not thinking about it as much.

I do think about it whenever I see someone with fake boobs though.  Is that what mine would look like?  Would people notice them and assume I just wanted fake big boobs (as opposed to my real big boobs)?  Why do I care?  Do you keep the nipple?  Are they BRCA carriers?

But today I feel good.  I'm coming more to terms with other people not getting it too.  I am handling this journey the way I handle things and in the end I know whatever decision I make will be based on research, thought, and what's best for me.  I will not make any rash decisions in vain based upon a yes or no moment at a geneticist.  I feel good today.

To test or not to test; that is the question

So, I have scheduled my first Genetic Counseling appointment for September 23rd.  Beaumont will be sending me a packet that I need to complete and return before I show up.  Yay!  More paperwork!  If I ever get around to purchasing a home in this lifetime, I am totally convinced my closing documents will have less pages to complete than all of my high-risk paperwork.

I have a lot to think about going into this first appointment, so many questions, so many uncertainties.  Or maybe I don't, and I'm an extreme over-thinker and I'm doing all of this unnecessarily.  I live my life literally planning for the worst and expecting the best.  As that applies to this current journey I've found myself researching like crazy.  You see the thing is that I really don't expect to come back BCRA 1 or 1 positive.  If only 2% of women are positive, the odds are in my favor. But then again, when are the odds ever in my favor?  So, with that I'd like to be able to make an educated, informed decision now, so if I am in that select 2% of people, I know my decision is based on rationale, and not emotion.

But then, what does a negative for BRCA really mean?  Does it mean I won't get breast cancer?  No, even if the test is negative I still  have that 32.92% chance.  Does it even mean I am really BRCA negative?  NO!  After all, the relative you should compare DNA with is a survivor, and my only living survivor and I don't speak.  For all we know, we may have the gene in the family and it may not show up in my screening, which doesn't mean I'm not, it just won't jump out and bite you from the snapshot of my DNA. 

So test or not to test?  That is the question.