Category: BRCA education

Tough Choices

Since going public about my BRCA journey and decision to have a prophylactic mastectomy, I have met many people who’ve told me they are debating whether or not to get the genetic test. I know it’s a scary thought to think you may test positive for a gene that means you have a higher risk of getting breast and ovarian cancers than the general population. Personally, when I learned about this BRCA gene and test option in 2007, it was not a hard decision to get the test. I’ve always been someone who likes knowing as much as possible about my health. But, I know tons of people feel the opposite way. I encourage everyone who is high risk to get the test.  Here are some of the reasons why:

  • If you test positive for the BRCA gene mutation, it does not mean that you will get cancer. Many many people with the BRCA mutation never get cancer.
  • If you test positive for the BRCA gene mutation, it does not mean you have to go out and have prophylactic surgical procedures. Having a prophylactic mastectomy or oophorectomy is an individual choice and one that is not the right choice for everyone. At least if you know you have the BRCA genetic mutation, you can have this conversation with a specialist.
  • If you test positive for the BRCA gene mutation, you can then follow the screening protocol for BRCA mutation carriers. This means you are doing a great job of preventing cancer by following screening guidelines.
  • I have been getting mammograms, breast MRIs, pelvic ultrasounds, CA-125 blood tests, and full body dermatological exams every year since I turned 25 – and it was all covered by insurance! This is because I have the BRCA 2 mutation. Knowledge is power.

If you think you may be a candidate for the HBOC (hereditary breast and ovarian cancer) genetic test, click here to take this quiz. If you want to find a genetic counselor in your area, click here.

Mutant Life

When I was at the FORCE conference, I was at dinner with my conference roomie and new friend I made. They were talking about what kind of mutation they had and spouting out all these numbers and letters and saying things like “Swedish founders.” I had no clue what they were talking about and asked what it all meant. They let me know that there are tons of variations within the BRCA gene and there is a series of letters and numbers below the gene mutation that indicates which variation you have.

I immediately emailed my mom because I know she had a copy of my genetic testing paperwork (thanks mom for being über organized) and asked her to email me my “mutant code.” She responded really quickly with the code – 6174delT. She followed up with “ps- mine is the same.” Once I got back to the hotel room, my conference roomie helped me to look up the gene. As soon as I entered the sequence, lots of results populated on Google. Turns out, my specific gene is the Ashkenazi Jewish founder mutation. From what I understand, this means that when the Ashkenazi Jewish population was decimated and started to repopulate, the 6174delT gene carried on. Or, according to Berkeley “A founder effect occurs when a new colony is started by a few members of the original population.”

This discovery was really interesting to me and I’m looking forward to doing more research on it!

6174

In The Family

I was lucky enough to go to a workshop with filmmaker Joanna Rudnick at the FORCE conference. Her documentary, In The Family follows Joanna’s journey after learning she has the BRCA genetic mutation at the age of 27. The doc is really powerful and also follows other people’s BRCA journeys in addition to Joanna. The doc is streaming free for the rest of June. Check it out here.

FORCE Conference: Day Two

I’m back in LA after an amazing FORCE conference and wanted to update you on day two. Day two included my favorite session – Revealing the Story within. This was a writing workshop with Documentary filmmaker Joanna Rudnick (I’ll be posting about her doc shortly) and Boston College Professor Amy Boesky. It was really interesting to see how writing by hand brought a different emotion from me than writing on the computer. Hearing everyone else’s stories was also very emotional for me. A lot of people at the conference didn’t find out they were BRCA positive until they were diagnosed with cancer. It makes me even more thankful and empowered to know about my genetic mutation.

This was an incredible conference and I am so thankful to have been able to attend.

FORCE Conference: Day One

Yesterday was day one of the FORCE conference – which is all about hereditary breast and ovarian cancers. So far, it has been an awesome and sometimes overwhelming experience. Most everyone attending the conference is a cancer previvor or survivor and there are 750 attendees this year! It’s been really nice to meet so many people who have the same genetic mutation that I do, it’s an instant connection you feel.

I’ve learned so much about the mastectomy itself – prep, potential complications, things to have handy around the house (think dry shampoo and hella DVDs). I attended sessions about mastectomies for prevention and treatment, psychosocial aspects of surgery, and fertility and planning for BRCA carriers. I also went to a “show and tell”, where I got to see/feel all sorts of boobies and ask questions about implant types, reconstruction types, and more. I will definitely be blogging more about what I’ve learned throughout the upcoming week. Follow me on Twitter for live-tweeting from the conference.

BRCA 1 vs BRCA 2

A fan of the blog asked me a great question this week – “What are the differences between BRCA 1 and BRCA 2?” I’m listing some main bullet points below and there are some great articles if you want to learn more – here, here, here, and here.

  • BRCA 1 and BRCA 2 both increase the risk for breast and ovarian cancer
  • BRCA 1 is more commonly associated with triple-negative breast cancers & BRCA 2 is more commonly associated with estrogen receptor positive breast cancers
  • BRCA 1 may have a slightly higher risk of ovarian cancer than BRCA 2
  • BRCA 2 may be associated with increased risk for prostate, melanoma, and pancreatic cancers. A new study may link BRCA 2 with an increased risk for lung cancer.
  • Men can inherit both the BRCA 1 and BRCA 2 mutation
  • The risk to inherit both the BRCA 1 and BRCA 2 mutation is significantly higher in the Ashkenazi Jewish population

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photo source

Screw You Cancer

Caitlin Brodnick is awesome and hilarious. She’s a 28-year old stand-up comic who has the BRCA1 gene mutation (my gene is BRCA2). Like me, she decided to have a preventative mastectomy. She also made her journey public through a web series that Glamour aired, called Screw You Cancer.

I met Caitlin when Screw You Cancer won an award at the Television Academy Honors last week. I practically ran up to her to talk after learning that she had gone through this process, and she couldn’t have been more cool.  She was totally open, friendly, and she gave me her number right away so I could call her with questions. Most impressively, she let me feel her new boobies, and they felt great (it is amazing how every woman I’ve met who has gone through this surgery offers to let me touch their boobs).

Check out episode 1 below and the other eps are after the jump

Empowerment

Amidst the chaos of finishing up all my papers and projects and prepping for finals week, I have a buzz of excitement.  And no, the excitement is not about taking my Advanced Pharmacology cumulative final (groan). It is about the FORCE conference I will be attending in Philadelphia June 12-14. FORCE stands for Facing Our Risk of Cancer Empowered and is a support group and amazing resource for hereditary ovarian and breast cancer issues. They have in-person meetings, online resources, and forums.

I found out about the conference after having lunch with two young women who I met through the online forum. Both women are BRCA positive – one already had a prophylactic mastectomy and the other was considering it. I was amazed at how open both women were and the instant connection I felt with them through our shared genetic mutation and all the stuff that comes along with it. I’ve since emailed people on the forum from all over the country about surgery questions and everyone has responded with wonderful advice.

Once I found out about the FORCE annual conference, I was lucky enough to obtain a partial scholarship through FORCE and my wonderful mom donated airfare to me. I am so jazzed for this conference. I can’t wait to meet others with the BRCA gene, ask a million questions about mastectomy prep and recovery, and go to tons of awesome sessions. I plan to post and tweet often from the conference. Follow me on twitter here.