You know how I rave about my doctor. Want to know the very first thing he set up for me? Before we’d even met in person or had officialized him as our medical oncologist?  

He had me tested for the BRCA gene. 

At the time, I was so distracted with my newfound diagnosis that I didn’t give it much thought until I received the call that I’d tested positive. But now? I view it as the most important piece of information I’ve received thus far. And it has directed all of our treatment plans. 

You’ll hear people refer to it as “Bracka”... aka the faulty BRCA gene mutation that runs in some families and carries with it a high risk of certain cancers. So high, in fact, that insurance providers which normally require a tried-and-true diagnosis before funding will often clear an immediate path–on the spot–for preventative maintenance with a positive result from this gene mutation.  

Both my grandmothers died of ovarian cancer. I also have lots of cancer on both sides of my family.  

Yet, when I asked multiple times to be tested for this gene, my primary doctors talked me out of it each time. I even offered to pay for it out of pocket.  

Like a pregnancy test, it can offer false positives, they said. So, what’s the point? 

I’ll tell you the point. 

Testing positive for this gene likely saved my life. Spared me from future cancers (that may have been just around the corner) far more difficult to treat than breast cancer. Gave my son his mother for many more years. Allowed me a greater opportunity to meet my grandkids. 

I’m not trying to be dramatic. I really mean this.  

What is BRCA? 

The BR stands for “breast” and the CA stands for “cancer.” 

BRCA1 (BReast CAncer gene 1) and BRCA2 (BReast CAncer gene 2) are inherently good genes, in that they are DNA repair genes. They’re supposed to find and fix mistakes elsewhere in the DNA code. Everyone has two copies of each of these genes–one copy inherited from each parent. But when they carry mistakes themselves (I.e. harmful mutations), the repair isn’t made, or it’s made improperly. And that can lead to cancer.  

People who inherit harmful variants in one of these genes have increased risks of several cancers–most notably breast and ovarian cancer, but also several additional types of cancer. They also tend to develop cancer at younger ages (hello 🙋‍♀️) than people who do not have such a variant. (Bonus tip: Triple Negative breast cancers are often linked to BRCA1 variants.)

That’s the cliff notes description of the BRCA gene mutation. And here’s a few more noteworthy bullet points for further thought: 

• If one parent carries a BRCA gene mutation, the chances of kids having it are 50%. If both parents have it, it is 100% 

• Men can carry it too.  

• Testing positive may affect your insurance premiums. (Ask me now if I care about that.)

• One in 400 women have it. (i.e., not that many). However, if you do have it, you have a 50-70% chance of breast cancer (up from 13% for general population) and a 20-50% chance of it recurring in the second breast later (which is why most opt for a bilateral mastectomy). And you have a 39-44% chance of ovarian cancer (up from 1% of the general population). Other cancer risks come along as well, but it is primarily focused on breast and ovarian cancers.

• This is the best way to determine your likelihood of Ovarian cancer. There are no good early detection screening options for ovarian.  

• People can test negative, and later test positive. For what it’s worth. 

If you want some fun reading to learn more, click here.

My parting thought is that you may have heard about the Angelina Jolie Effect. In 2013, Jolie found out she was positive for the BRCA gene mutation following the death of her mother at 53 from breast cancer. She took matters into her own hands and opted for a preventative bilateral mastectomy and hysterectomy. After thousands of women followed her lead with BRCA genetic testing and risk-reducing surgeries, Jolie’s choices were often slighted by the medical community at the time for being premature and brash. But now? Her decision path has become the medical mainstay for BRCA variant patients. My path, which has been set by some of the best breast cancer oncologists in the United States, mirrors hers.

Who Should Test? 

First off, if you’re curious and inclined to know these things like I am, you can opt for a direct-to-consumer test through companies like Invitae.  

If you identify with any of the following scenarios, you will likely be covered under insurance and I strongly recommend you test yourself: 

• A family member with a BRCA1/2 inherited gene mutation (or other inherited gene mutation related to breast cancer) 

• A family history of cancer and have Ashkenazi Jewish heritage 

• A close family member diagnosed with breast cancer at age 50 or younger 

• A close family member diagnosed with ovarian cancer, male breast cancer, pancreatic cancer, or intermediate-risk or metastatic prostate cancer 

I will tell you that they greatly advocate talking to a genetic counselor to make sure you are ready for the information. This was never an issue for me personally, as I am an information-gatherer by nature. But look at it this way… if you test positive, you are now in the position of intentionally taking control of your future. And insurance carriers take this gene very seriously. 

Rather than simply treating my breast cancer, the BRCA gene mutation results literally cleared the path for full preventative measures, primarily a bilateral mastectomy instead of just a lumpectomy, as well as a hysterectomy to follow. I don’t have to wait to get cancer again. And I don’t have to go in for multiple surgeries and chemo rounds. We are now treating both current and future cancers in one fell swoop.  

Which, if you ask me, is nothing short of fantastic. And something for which I am deeply grateful. 

A few concluding thoughts for this week: 

• I was approved by insurance for self-injections each week of the white blood cell boosters, yay! This saves me from driving to Santa Barbara three days a week just for a two-minute shot, which was taking a toll on both my energy levels and our gasoline bill. 

• I have my “big chemo” (Taxol/Carboplatin/Keytruda) this coming Tuesday and am feeling more prepared than last time to manage it effectively.  

• Chemo brain is a real thing. It’s especially real during Summertime! (i.e. Kids Off School 🤪) Enough said.  

• Thank you so much for all the ongoing words of encouragement, notes, juices, thoughts, love and prayers. It means the world.  

Happy Summering.

Love always, 

Evie