Monday, September 27, 2010

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)

Thursday, September 23, 2010

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.

Tuesday, September 21, 2010

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!

Saturday, September 18, 2010

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.

Tuesday, September 14, 2010

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
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.

Sunday, September 12, 2010

The term Previvor

This is copied and pasted from:  It's a description of the word, its origin, meaning and purpose straight from Sue Friedman who coined the term and founded FORCE (Facing our Risk for Cancer Empowered).

Use of the term “previvor” has become common, which, in my opinion is good for our community. Since popularization of the term increases the chance that its meaning and origin can get lost or forgotten, a post on the origins and future of the term seems timely.
I have seen some people react strongly (with intense like or dislike) to the term, which I can understand. By sharing the history and reason why the term was coined I hope to help people accept or at least understand the intent and meaning behind the creation of the term.

In 1998, after finishing my treatment for breast cancer and after learning that I had a BRCA 2 mutation, I sought out breast cancer support groups. Because of the hereditary component to my cancer, I felt that others in the group couldn’t relate to many of the issues I was facing. My needs were not entirely met by the standard cancer support group model. Along the way I met women who were high-risk because of a BRCA mutation or other risk factor but who did not have cancer. These women became my friends and inspiration; certainly they were facing difficult decisions and issues that most of their friends couldn’t understand or relate to. With a diagnosis of cancer I immediately joined an already well-established community (albeit one I didn’t want to belong to) and instant access to support and resources via great organizations such as Gilda’s Club, the Wellness Community, and local support groups. Sadly, I noticed that many of my new high-risk friends without cancer felt alone, and not comfortable with using resources and forums created specifically for people with a cancer diagnosis.

I founded FORCE in 1999 under the principle that nobody should face hereditary cancer alone. Our goal has always been to include all who have been affected by hereditary cancer: those with cancer and those without, those with a known mutation and those with cancer in the family even if no BRCA mutation has been found. FORCE was also established to provide a home and safe haven specifically for high-risk women who had very few other safe and supportive places to share their common experiences.

The term “cancer pre-vivor” arose in 2000 from a challenge on the FORCE message board by Jordan, a website regular, who posted, “I need a label!” At that time I knew that the medical community had a label: the term “unaffected carrier” is used to describe those who have a gene mutation but have not had cancer. The term applies from a medical perspective, but can be dismissive for people who face the fears, stress, and difficult choices that accompany an increased risk for cancer. As a result, FORCE developed and promoted the term “cancer previvor” for “survivor of a predisposition to cancer.” The term includes people who carry a hereditary mutation, a family history of cancer, or some other predisposing factor who are living with the knowlege of being high-risk.

Over the years the term previvor has been incorporated into the FORCE lexicon. Due to the enthusiastic use by our community and the medical community’s lack of a better word, the term has slowly been accepted by the medical and research community. In 2007 a series of high-profile articles in the New York Times brought public attention to the term and the serious issues that cancer previvors face. In December 2007, Time Magazine chose “previvor” as #3 of the top buzzwords of 2007 giving millions of people exposure to the term.

What does the future hold for the term and the community? The explosion of genetics research has led to the discovery of genes that predispose people to many different diseases. One of the powerful promises of genetics research is the ability to better predict risk and develop effective strategies to prevent diseases like cancer before they develop; this is an area where we have great potential to make an impact on the wellbeing of this and future generations. With the discovery of more genes that predispose to an assortment of diseases; cancer, diabetes, Alzheimers, we can expect that more people will learn that they are at high-risk for something. And risk is a spectrum: not all risk is created equal. Someone with a 25% lifetime risk for breast cancer for example,(compared with the population risk of 12.5%) may have a different set of issues to face and choices to make than someone with an 85% lifetime risk for the disease. These emerging “previvors” will face new challenges and dilemmas that may be different from those faced by the BRCA community but which require a new set of devoted resources. Through recognition and awareness of the unique issues each high-risk group faces we can begin to address their information, resource, and research needs. Perhaps this will require the development of a government agency–maybe an “Office Of Previvorship” (OOPs for short?)–with committed resources and funding to study and try to meet the medical and emotional needs of those who have hereditary predisposition to diseases.

The development and success of the term previvor is just one example of FORCE’s continuing role in uniting and providing a strong voice for families touched by hereditary cancer. For more information on FORCE and our programs, visit our website at

The wait on my chest

I am not good at "doing nothing."  Don't get me wrong, I'm great at vegging out on a Sunday afternoon, TV in the background, laptop on my lap (ahem), snack food an arms reach away.  But I'm your classic, textbook definition of a Type A personality, or as Wikipedia puts it: an impatient, time conscious, controlling, concerned about their status, highly competitive, ambitious, business like, aggressive "stress junkie."

And now I feel like my whole life is a waiting game; and I'm not very good at waiting.  First, I waited until I was 30 for my first mammogram, then I waited for the results, then I waited to meet the NP, now I'm waiting to meet with a geneticist.  After that, I'll wait 4-6 weeks for my results.  If my results are positive (awful word for it since it really means something negative) then I'll wait the appropriate amount of time (5 minutes enough?) and make my prevention decision.  If my results are negative, then I'll wait for my MRI, and it's results thereafter, wait until I have my mammo 6 months after that.  Lather, Rinse, Repeat.

I feel like I'm just waiting to get cancer, like cancer is the finish line and I'm somewhere on the course without a map. I need a "you are here" dot like on the mall maps so I can stop waiting. I need answers, results, action. I need to stop waiting.  I want to start doing.

Mainly, I feel like I'm waiting for people to get it.  The support boards are great and have offered me so much direction and insight for what happens after, but I am actively trying to find something, someone for now.  I'm waiting for someone to come along and not question what I am doing, but ask questions about what I am doing.  I am waiting to talk to someone who doesn't imply that I'm handling this all wrong.  I'm waiting for a conversation with someone who gets that this is a big deal and why it's the weight on my chest right now. 

I'm waiting, always waiting.

Check yourself before you wreck yourself

Today I SBE'd, shorthand for Self Breast Exam.  This is my first SBE post my NP appointment so I wanted to do a little bit of research on what to look for.  Basically, you're looking for:

  • Any new lump (which may or may not be painful or tender)
  • Unusual thickening of your breasts
  • Sticky or bloody discharge from your nipples
  • Any changes in the skin of your nipples or breasts, such as puckering or dimpling
  • An unusual increase in the size of one breast
  • One breast unusually lower than the other
Sounds simple right?  It's not.  While a mammogram can detect a lump as small as 0.2 cm, the lumps you'll find while SBE can range from 2-3.5 cm! 

Plus, now I'm curious and loaded with questions for when I see my NP next (10 months!).  I want to know what a lump feels like, how it will differ from the already present "dense-ness" of my breasts, how do you tell the difference?

Here's your how to guide:

Sunday, September 5, 2010

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.