There are some inherited mutations in the BRCA 1 and BRCA 2 genes that increase the risk of breast and ovarian cancer in women - meaning they do exactly the opposite of what they are supposed to do.
Together, these mutations account for 20 - 25% of hereditary breast cancers and 15% of ovarian cancers. Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts. A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries a mutation in one of these genes has a 50 percent chance (or 1 chance in 2) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when a person’s second copy of the gene is normal.
About 1.3% of women in the general population will develop ovarian cancer sometime during their lives. By contrast 39% of women who inherit a harmful BRCA1 mutation and 11 - 17% of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70.
Additionally, about 12% of women will develop breast cancer in their lifetime. 55 - 65% of women who inherit a harmful BRCA1 mutation and around 45% of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70.
How do you know if you need to worry about the BRCAs? You look at your family history. Having multiple of these risk factors in your family means you should consider testing:
- Breast cancer diagnosed before age 50 years
- Cancer in both breasts in the same woman
- Both breast and ovarian cancers in either the same woman or the same family
- Multiple breast cancers
- Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
- Cases of male breast cancer
- Ashkenazi Jewish ethnicity
My family history contains 3 of these risk factors. Not only that, but my cancer is considered to be diagnosed at a very young age. Gene testing has been something I've been interested in since my mother passed away. I mean, you need to know what you're in for, right? Before I was diagnosed, I went to two separate Oncologists. If an Oncologist orders the gene test your insurance is more likely to cover the cost. The test is quite pricey so I wanted someone on my team to take me through the process. Both of these Oncologists were old, chauvinistic, stupid little men who waved me away stating that they refused to give me the test because I had not yet had children. They claimed women who got positive results "went crazy" and had full hysterectomies and double mastectomies immediately. They told me even though it was likely I may test positive they wouldn't order the test because I was too young. That they didn't want to feel responsible for my inability to have children. Have kids, then come back and try again they said.
Stupid, horrible, chauvinistic doctors. As I argued with them each time respectively - telling them this was my choice, that I wouldn't react that way, that I just needed to know so I may better protect myself and be aware - it didn't matter. I realized I didn't want to work with a doctor that thought and behaved this way. So each time I left and never got tested.
This became a lot more relevant on April 15th this year when I was diagnosed with Ovarian Cancer. Should I have fought them harder and worked with them after all? Would that have changed anything? When I met Dr. Lee she wanted to do genetic testing immediately. I told her about my previous experiences with the other Oncologists and she just closed her eyes and shook her head. She apologized on behalf of her field. I knew I had found the right person for the job.
It takes a little longer than a month to get the genetic test results back. There are now hundreds of genetic markers you can test for and after going through my family history with fine toothed comb we decided to test for 17 of them. For many of these the real meaning is unknown and the findings would may do nothing other than help push along the research. I'm cool with that.
After my egg retrieval procedure I was at home recovering. I woke up to Dr. Lee's office calling me. They had my genetic test results.
You have to understand, I had worried about these results for years. Due to everything else that has happened so far this year I was hoping for the best but more so prepared for the worst. A positive result would change my treatment plan. It would mean a full hysterectomy without giving me time to have kids first. A positive result would change the rest of my life. My voice was calm, but my heart was pounding.
They talked about some genetic marker that isn't linked to cancer for a long time. My results for this gene were inconclusive. They went on about what this means and how a lot of it is still unknown - blah blah blah. After they finished, they stopped talking - giving me room to ask questions.
Uhm, what about the BRCA 1 and BRCA 2 genes?
Oh! Negative! You tested negative for all other mutations.
I don't have the BRCA mutations.
I immediately let out a cry of relief and tears started streaming down my face. This was a very big win.
Now what does this mean for my treatment plan? I get to move forward as planned.
This plan was decided when I met with Dr. Lee to get the results of my various scans and tests. My CT was clean. My MRI looked ok. My X-Rays were ok. in reviewing my slides from the first surgery Dr. Lee decided that they did not get clean margins. She wanted to take the right ovary out.
Ok, cool. That one betrayed me anyway. I'm done with her. I still have lefty and some eggs chillin in a freezer in Houston. Get rid of her.
Its not as simple as just taking out that one ovary she explained. Even though my CT scan had come up clean there was still a 30% chance that the cancer had spread on a microscopic level and the scan had not picked it up. 30%? 30%?!!? Thats a huge percentage. Too much for comfort anyway. To combat this, they will take my abdominal lymph nodes and omentum (a stomach muscle) also. These are the first places the cancer will spread to. The surgery will be my formal cancer staging procedure. The test results of the organs they take out and the pieces they biopsy while they are in there will determine if I really am in stage I. If it has spread to the lymph nodes then I'll be in stage II, but it all depends on the severity.
There is a good chance that after this surgery I will be free of cancer. Then I can make lots of babies and never look back. I am clinging to this positivity. I don't yet know how long it will take to get the test results back, and I'm sure I'll be stressed the whole time I have to wait, but I'm also excited. This could be over soon. Would that make me some kind of a cancer badass? From diagnosed to cured in a couple of months? Of course it would. I'm down.
So... tomorrow (Monday, June 22nd) I am going to let someone cut into me for the second time this year. I'm hoping it will be the last time for a long while.
And as much as I want to spit game about being such a champion and a badass going into this surgery the truth is - I'm nervous.
As I was doing my surgery prep I thought a lot about my Mom today. I was in high school when she had her mastectomy. I honestly don't remember a lot about it. My Mom kept a lot of things in regards to her cancer private from her kids. She didn't want us to worry. (Doesn't work BTW).
The thing is, I've always only ever understood cancer from a caregiver's perspective. But for the first time I understand, at least a tiny bit, what my Mom was thinking and feeling. Looking back at the time of her big surgery I wonder, "Was I there for her enough? Did I give her what she needed?" I honestly don't remember. I was 15 or 16. If I'm truly honest with myself - the answer is no. I'm sure I wasn't. I'm sure I was too worried in what I was feeling to understand or even try to fathom what she needed. Not my favorite realization. She was always so strong, but now I understand. Underneath it all she was terrified. And I didn't give her what she needed. Because I simply just didn't get it.
There isn't anything I can do about it now except learn from it. That means both her mistakes and mine. She should have been more open, I should have been more compassionate. Not that I blame her. This is a kind of fear that makes you want to retreat inward. Its easy to feel like no one quite understands what you are going through - because you're not even sure of it yourself. And as much as its appreciated its exhausting to have people worried about you all of the time. So you learn to be more selective about what you share. You don't complain too much. You wait until day 3 to tell anyone you've been sick with a viral infection, or you can't sleep, or that you have unbearable pain in your abdomen. Because if you tell them then it's harder to be positive. Their well intentioned love and worry makes you worry too.
As hard as it is though, its totally worth it to be open, especially with yourself. Amazing things happen. Meaningful conversations, bonds forged, love shared, courage rebuilt. Even feeling a new connection to someone you lost 7 years ago.
I finally understand what my Mom was feeling all those years ago. Even after her death I'm able to feel love from her, to learn from her. It's weird, but I'm glad we have this connection. She forged the road, I get to repave it.
So, tomorrow I'm literally laying it all out on the table. I'm going to believe that this is the beginning of the end of this saga and I'm going to do it with strength and stillness instilled in me from an amazing mother, but a little learned openness and compassion too.
Wish me luck.