BRCA whaaaattt?

Well first, thank you SO much to everyone who has sent messages of support, encouragement, and gratitude toward what I am sharing via this blog – I had absolutely no idea how many people I would be able to reach. I have received emails from women who have been in my shoes already – and tested positive for the BRCA gene mutation - including a woman who opted for preventative surgery, but also a woman who chose not to. So it’s great to hear stories from both choices. And of course it has also been beneficial to hear from women who tested negative, too. Then also to hear from women who need to get tested but have just not been able to take that step yet (because it obviously isn’t always an easy one). I guess you could say someone from every choice or outcome.

Blog Shares! Bright Pink (organization which I discussed in my last entry) shared my blog on their Facebook page (they have over 18,000 followers) – SO cool, thank you! It has been so helpful to read stories from fellow Bright Pink ladies. I also received such a nice, encouraging response from Bright Pink founder, Lindsay Avner. It means so much to have this amazing organization behind me, helping me remember to feel proud for speaking up and sharing my story.

Then I received an email from a Myriad Genetics Patient Education and Advocacy Educator yesterday. I was shocked! Myriad is the ONLY company right now (I hope i've got that info right) who performs the BRCA genetic testing. I couldn’t believe that my blog had reached them. They would like to share my blog on their blog, and have me be a guest blogger. What an incredible honor!

For a split second it was a little scary when I was getting such an immediate, overwhelming response…because I realized just how many people may read this. Yikes…sharing everything…with the word. But then I hit myself and remembered that IS why I am doing this. To reach any and everyone who has been affected by this in one way or another. To be called things like “inspiring,” and “courageous,” over the past few days by some pretty important people, is beyond words. Because I just feel like an everyday, average person – who happened to decide to write my thoughts down rather than bottling them up in my chaotic brain!

Ok that first part of this entry took a little longer than I thought…now onto the bigger purpose of this entry. BRCA whaaaaat? I realize many people may be thinking what is this BRCA thing she is talking about! Well…everyone has the BRCA1 and BRCA2 genes. It’s people that have a mutation in these genes, who are at an increased risk of breast/ovarian cancer. I thought it would be easiest (and most accurate) to share the following from Mayo clinic - http://www.mayoclinic.com/health/brca-gene-test/MY00322:

“The BRCA gene test is a blood test that uses DNA analysis to identify harmful changes (mutations) in either one of the two breast cancer susceptibility genes — BRCA1 and BRCA2. Women who have inherited mutations in these genes face a much higher risk of developing breast cancer and ovarian cancer compared with the general population. The BRCA gene test is offered only to people who are likely to have an inherited mutation, based on personal or family history, or who have specific types of breast cancer. The BRCA gene test isn't routinely performed on women at average risk of breast and ovarian cancers. Having a BRCA gene mutation is uncommon. Inherited BRCA gene mutations are responsible for about 5 percent of breast cancers and about 10 to 15 percent of ovarian cancers. After having a BRCA gene test performed, you learn whether you carry an inherited BRCA gene mutation and receive an estimate of your personal risk of breast cancer and ovarian cancer. Genetic counseling is an important part of the BRCA gene test process.”

Another site with a wealth of information – Myriad (the company I mentioned earlier). If you click on this link, there is a simple chart that may help others better understand if they are or are not considered high risk. As you can see, it IS rare – so please don’t be scared by my blog or immediately think you need to be tested! According to Myriad, only about 7% of breast cancer and 11 - 15% of ovarian cancer cases are caused by mutations in the BRCA1 or BRCA2 genes. http://myriad.com/treating-diseases/hereditary-breast-cancer/

Lastly, my appointment with the genetic counselor is on Friday. Ill do a posting all about the appointment and what to expect, for all those wondering! I went through the counseling appt. part of this whole process last summer (mentioned in my first entry), but now that my mom tested BRCA positive, I guess I need to start the process over and do the initial appointment again. I realized today it will probably be completely different, since I am going into the appointment with new information and my risk of being BRCA positive is now 50/50. The actual test part (which ill do Friday as well) is just a simple blood draw. Well…there is no such thing as simple blood draw to me– I am sure it will be dramatic and ill think I am going to faint as usual.  My mom will be going with me so at least she can buy me some candy and orange juice ;-)

So…over the next few weeks I plan to do postings about – Genetic Counselor appointments; To know or not to Know (first hand examples from people); What happens if someone is BRCA positive – options, etc…and more. I also hope to have a few guest bloggers.

And of course the MOST important – please keep my mom in your thoughts and prayers (as so many of you already do every day), as she fights breast cancer for the second time. She had her first chemo treatment last week and her next will be in a few weeks. She will have a total of four treatments. She is doing great though and always in good spirits! :)

I wrote this blog last night and will post another one tonight (if I don't fall asleep after work - because I am exhausted from staying up too late browsing Pinterest lol) about my morning and something else I thought I would share.

Blog backstory and why I am doing this

This is difficult to get a few years of information and emotions into a few paragraphs...but I am going to try :) Then I can truly document the day by day journey, after I bring everyone up to speed on who, what, where, why....I am doing this.

When I was in high school, my mom was diagnosed with breast cancer at age 42. She had a lumpectomy, chemo, and radiation. Every year since then, I would get that twinge of nervousness when she had her yearly mammogram...but the more years that went on, it would get a little easier because I had convinced myself there's no way her breast cancer would return...ever, it'd been way too long! The thought would hardly cross my mind. In December of 2012, I even dedicated my winter dance recital to her and her 15 years of being a breast cancer survivor. Then ironically, just a few weeks after that....I can't explain the feelings and emotions I felt when she was diagnosed with breast cancer for a second time. Shock, fear, anger, fear, fear...Amongst everything else, I couldn't help but immediately wonder if she did have the BRCA gene mutation (BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer. It can increase a woman's chance of getting breast and/or ovarian cancer by up to 70% http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA.)* Why and how did she just happen to get cancer AGAIN (and a new cancer, not a reoccurrence) 15 years later? I had learned a lot about genetic testing and the BRCA genes over the last year and a half, because I had ironically already met with a genetic counselor to start the process of getting tested....which is where the next part of the backstory comes in.



Bright Pink Fundraiser

In late 2011, I learned about Bright Pink (www.brightpink.org, A non-profit focusing on early breast/ovarian detection in high-risk young women) from my good friend Lindsay and we thought it sounded like a great organization to get involved with, as we were both looking for a new volunteer opportunity. She had an aunt who was currently fighting breast cancer and I of course had my mom who was a breast cancer survivor (and on a sidenote, we eventually "hooked" those two up and they became friends and supporters of each other - I love connecting people)! Bright Pink was something we could both relate to and were excited to get involved with. It was thru Bright Pink that I gained a wealth of information about how to be proactive with your health, especially for women who have a family history of cancer. It is also thru Bright Pink that I was truly and properly educated on the BRCA gene and genetic testing. Every year, probably since I was 24, my doctor(s) would bring up genetic testing and ask if my mom and I had considered it, since she was diagnosed at a young age with breast cancer. I would barely let them finish speaking, and immediately say that it wasn't something I was ever interested in knowing. I remember at times getting so frustrated and fighting back tears, as they would continue to press the matter. "Why would I want to walk around knowing I was going to get cancer? Why would I want to wake up every day thinking cancer was looming in my body?" Those are the honest to god, truthful (and immature!) thoughts that used to go through my head. I would leave their office thinking who are these people that get this crazy test?

However, it did also take that same friend to get me to "see the light." I remember one night (I think the same day we discussed getting involved with Bright Pink), the topic of genetic testing came up...and I am sure said out loud all those crazy questions that usually just went on in my head with myself...for why I would never EVER want to go through genetic testing. She somehow easily changed my way of thinking, by making me look at it as a gift, not a death sentence (I know it sounds harsh, but its the honest truth on how I always felt about genetic testing). She made me realize someone who is BRCA positive is given the gift and opportunity to be proactive and in control of their health. It's a life saving information. (I'll discuss exactly what those proactive options are in a later blog entry). I think it was the fact that it wasn't a stern doctor or medical professional who only knows me from 10 minutes a year they see me....it was someone talking to me as a friend, giving me the straightforward truth in plain old simple words. I don't know if she realizes the impact that conversation had on me, or even remembers, but thank you ;-)

Bright Pink has a program called "PinkPal," which pairs women like myself up with someone who has already gone through genetic testing. I was paired up with Jaclyn in 2011 when I started to consider the test, and words can't describe how much help she was in just giving me the honest, straightforward truth about waiting for test results, her being diagnosed as BRCA2 positive, and decisions she now faces.

In the summer of 2012, I finally made an appointment with a genetic counselor, Scott (ill be happy to provide his name and more info once I get his "OK" to do so!) whom my new doctor referred me to. It was an extremely interesting and educational appointment, and in the end it was determined I only had a small chance of  the BRCA gene mutation (I want to say it was 11%, but I have to find that info again). I didn't leave there feeling nervous, scared, or anxious...I felt educated, calm, and empowered. Scott told me it would be best for my mom to be tested, not me. This is because if I have the BRCA gene mutation, it is obviously something I inherited from a parent (my dads family doesn't have much cancer history that I know of, but my mom's does - and since my mom had breast cancer, it would likely have been inherited from my mom's genetics). If my mom was in fact BRCA positive, it would be information she could use to share with other family members - to potentially save them from getting cancer (if they inherited the gene as well). So it would make more sense for her to be tested. Because if I tested first and was positive, it would mean I inherited it - so the first suggestion would be for my mom to be tested.

That summer I talked to my mom about her being tested, we found out her insurance wouldn't pay for it, I changed jobs and lost my insurance. Fall came....I looked into programs for genetic testing for non and under-insured people, and the usual "life got busy"....all of that over the course of six months, until January 2013 when it became a priority again after the shock of my mom's second breast cancer diagnosis.

My mom was ironically referred to the same genetic counselor that I met with (I really liked him, so I was glad!) and received the blood test to determine if she had the BRCA gene mutation. I'll be completely honest and just say I knew it was going to come back positive. I of course kept that to myself, as that is the last thing I wanted my mom to be worrying about as she started chemo and began her second fight with breast cancer. It was just intuition, I can't explain it other than that. I would tell her the test was going to come back negative, as there would be more breast cancer in our family if she was BRCA positive. My mom received her results this past Friday, and she is in fact BRCA2 positive. I tried to stay calm and remind my mom (and myself) that it is a GIFT of knowing - you have the chance to save your life. But I'd be lying if I said I wasn't immediately upset, worried, and angry - she just started chemo and now it's suggested she have surgery after that? Noone likes to see their loved ones in pain, and it's unfair to me that my mom has to go through all this. And then I thought about myself and if I have it - and immediately felt selfish for thinking about myself in that moment, as I think most women in this situation do. But after I got those emotions out, I remembered what's really important - we have this information that not everyone is so lucky to have. There are people in this world who are diagnosed with cancer when it's too late - and being diagnosed as BRCA positive...well, you have the chance to know BEFORE that happens! I will write a separate blog posting on what happens when someone tests positive and the preventative measures that are suggested.

So...that is the story of how I came to being tested for the BRCA gene mutation. I plan to get my blood test done this week, and then results will take about two weeks. Over the course of those few weeks, I am going to write about all of the topics related to this that too many people are afraid, ashamed, or embarrassed to talk about. I think it would be beneficial to others to share the step by step process before, during, and after - no matter if my result turns out to be positive or negative. I've always been one to speak my mind, so why stop now? :) What will I even do with the information if I test positive? Would I have a prophylactic mastectomy? I already think I know the answer to that in my head (I can't help but already think about what I would do), and I will share my feelings on it later. Some people may think I am sharing too much, but this is a topic that I wish more information was EASILY available on. The information and education IS definitely out there, but it's just not right in front of our faces. If I can encourage just one high risk woman to get tested, or help just one person understand "knowing is empowering," then my purpose of this blog has been met! It's also a great way to keep my (and my mom's) friends and family in the loop. I am hoping she will use this blog to share her story, too :)

I also want to say...My PinkPal (Jaclyn) and I exchanged emails from December 2011 all the way thru summer 2012 when I finally had my genetic counselor appointment. We keep in touch via Facebook too, and even though Jaclyn and I have never met, I know she is an amazing, inspirational, and strong woman! She always checked in on me and offered so much to support...and to me, someone whom she had never even met. She is the first person I contacted when I found out my mom was BRCA2 positive, and we are finally going to meet in the coming weeks while I wait for my test results. I highly suggest Bright Pink to any young woman, especially those at high risk or who are even just thinking about genetic testing. www.brightpink.org

A sidenote: Some may wonder why I was so adamant about genetic testing and learning so much about it, when (at the time) my mom only had breast cancer once and none of her sisters had had it. Many women with the BRCA gene mutation have a long line of breast cancer in their family, and my family doesn't necessarily have that. However, I can only explain it by saying I had a weird gut intuition the last few years. Something was telling me my mom (and possibly me) needed to get tested.