Fast facts (if you don’t have time to read the full post): Today I had a meeting with a genetic counselor. I will be tested for 47 different cancer causing genes including BCRA1 and 2, which so happen to run in my family. I also had an impromptu meeting with a fertility preservation clinic in Seattle over the phone and scheduled my first appointment with my oncology team for tomorrow at 4 pm. MRI results have come back, but I could not get into my account to see the results, so I am guessing I will learn more tomorrow. 40-50% of MRI results come back with results that will end with more ultrasounds and biopsies to make sure the doctors are not overlooking any spots of concern that could be treated.

TO THE LONG VERSION!

This post might have 56% less sarcasm today than previous posts. I had a really really hard day. So fucking hard. On top of what is happening in world in Ukraine and the fucking transphobic shit in Texas, this day felt like an emotional hell. I am not ready to write about the hard parts of my day in this post since I am still processing them and it has to do with my fertility preservation meeting, so hopefully in another post I might be able to talk about it. For now, let’s talk GENES! Time to recall your short time in biology 101. Woo!

I cannot stress the value of asking your family about their medical histories. If you need to stop now so you can go have this important conversation with your loved ones, I can wait. Ask about history of cancers and other diseases. When was someone diagnosed? Has anyone had any genetic testing done? I will be right here until you get back. 🙂

Today I want to specifically discuss BRCA genes because that is what is impacting my journey with cancer the most. I am on a HUGE learning curve with this, so I am heavily relying on this awesome site that I am going to redirect you to learn really fast what BRCA genes are and what it means to have a mutation and then I can tell you how this is playing into all of this. You can click on this informational bit here. Don’t worry, I will still wait for your return once more. This link is a must read, otherwise what I might say next may not make sense.

Several family members on my father’s side have tested positive for either BRCA1 or BRCA2 genes. Many have been diagnosed with cancer. Because I want to be sensitive to my family members, I am not going to say who but just the type of cancers these family members have had or are currently battling: prostate, breast, and ovarian. And here is me, diagnosed at 29 with breast cancer. I am the youngest in my family with a cancer diagnosis. My counselor said she is not a betting woman, but she is willing to bet that I will test positive for carrying the BRCA1 mutation. She would be VERY surprised for my results to come back otherwise given my current diagnosis.

In total, I will be tested for 47 different cancer-causing genes! Although we are particularly focused on the BRCA outcomes, the others can be helpful down the road. A positive diagnosis for me can help inform my treatment on a deeper level. If you made it to the part about PARP inhibitors, congratulations because that is the most interesting part, or at least to me. (And you probably saw the second paragraph about triple negative cancers, and I told you not to click on it so I hope you didn’t because that isn’t my problem anymore! Don’t torture yourself unless you’re feeling okay mentally haha.) The PARP inhibitors could be another tool in my treatment if I am BRCA positive. PARP helps repair DNA when it becomes damaged, but when it comes to these mutated genes and cancer, PARP inhibitors can prevent these cancer genes from repairing their damaged DNA, ultimately making them die.

Like I mentioned, some of my family members have completed their genetic testing and one reached out to me and faxed their information to my counselor for today’s meeting. We were able to discuss it and I learned that the particular BRCA1 gene mutation that is appearing in my family has something called a deletion and is missing three letters in the gene. It is important to note that not all mutations are high risk; some appear to be harmless variations. “The cancer risk associated with any given mutation varies significantly and depends on the exact type and location of the mutation and possibly other individual factors,” according to this Wikipedia article. Unfortunately in case of our family, ours is a high risk mutation.

So this brings me back to my first request. Do you know your family’s medical history? Can you be that catalyst to start the conversation and be a pioneer in getting tested? I know that is scary and sometimes not fun to think about, especially when you’re young. I wish I had thought of it sooner. It might have steered me away from this journey with cancer. But what I know now is what I want to use to help YOU. Ask your primary doctor what steps need to be taken to get a referral for genetic testing. Because I got to genetic counseling through this experience with cancer, you getting there might be different than how I got here so consult with your doctor. If you have someone in your family who has tested positive for BRCA1 or 2, this makes the process a lot easier. I learned that with my test, my sister can get tested for free up to five months after I get my results. That test result could give her critical information to be proactive about her health. Technology is amazing.

Oh and you may be wondering about the test itself! Super easy. Just massive swab you rub in your cheeks ten times on each side. Easiest test I have had so far. I should get my results in about 3 to 4 weeks.

If you have done 23&Me, that is a great resource to learn about your ancestry and some other interesting and informative facts. However, please read the full explanation of carrier and variant reports. I misread the report about the BRCA genes and currently the “test includes three genetic variants in the BRCA1 and BRCA2 genes that are most common in people of Ashkenazi Jewish decent.” If you are not of Ashkenazi Jewish decent, this test is pretty useless to you. I work at a library and you’d think I would be a good reader, but I missed that very important detail and this whole time thought I did NOT have the BRCA genes. Reality is about to check me the fuck up. Don’t be like me and read. Lol.

Today was a long day and my emotions hurt. My heart aches. But I did learn a lot. I hope you did, too!

Today’s song lyric of the day is brought to you by Daft Punk!

“I’ll just keep playing back
These fragments of time
Everywhere I go, this moment’ll shine”

– Fragments of Time, Daft Punk