Got two huge results in the last 24 hours that will help guide my treatment plan. First up was my genetic results letting me know if I carried any mutations on genes that increased my likelihood of cancer. I used the company Gene Matters. The test was $250 out of pocket. It did not matter if I just did one test or tested for all know 47 genes with mutations that increase cancer so I opted for all 47. Out of the 47 genes that can have mutations I have a mutation on my BRCA 2 gene that increases my likely hood of ovarian, pancreatic, prostate (in men—I don’t have a prostate, silly!), melanoma, and breast cancer. Guess that explains why I got the cancer. Second up is that my cancer is my hormone and HER2 status. I’ll talk more about that under “HER2 & Hormone Status.”
What BRCA Means For Treatment
In regards to treatment it does not affect the course of my treatment too much. We may be able to add a drug called a PARP inhibitor that has shown to skrink cancer in ONLY BRCA+ cancers. I’ll bring it up with my oncologist tomorrow.
This information may help in getting a masectomy and partial or total oophorectomy (removal of all female organs) covered by insurance. It also means I could get more frequent screenings covered as well. I learned there are two different screenings for pancreatic cancer, an MRI and an endoscope ultrasound. Neither are that great at catching it but something is better than nothing.
What BRCA Means For My Family
For my family members it gives them information that they too may carry this gene. They can decide to get tested or not. If they do get tested and are positive they can qualify for more frequent screenings or removal of certain organs proprolactically.
Right now, we don’t know if I inherited this from my father, mother, or both. There is no way to know unless they get tested and show they carry the mutation as well. The assumption then would be that I inherited it from that carrier alone. This is good and gravy, but both sides have a strong history of those mentioned cancers so I could have gotten it from both.
My Family’s BRCA History
There is also a lot of confusion and discussion on my fathers side of the family as if my grandmothers breast cancer was BRCA positive. Some swear there was a meeting where this was confirmed, others have no recollection of it and claim it never happened. I do have a cousin who had a BRCA positive breast cancer at a young age but I do not know if she had BRCA 1 or 2 mutations, which both can increase breast cancer chances. It was extremely frustrating to find out ALL this information for the first time in my life yesterday. Had I of know there was this gene in the family I would have been tested long ago, found out I was positive and gotten everything removed prior to actually getting cancer.
I knew about my grandmother’s cancer. I had done 23andMe and it said I was negative for some mutations on my BRCA 1 and 2 so I thought I had nothing to worry about. I only now understand that 23 and me does NOT test for every mutation on the BRCA genes, hence why they warn users to not take their results as medical advise. If the mutations run in your family consider talking to your doctor about getting tested professionally if you want to be 100% of your status.
Have a Genetic Mutation? Tell Your Family!
I urge and beg of you, if you know you have a genetic mutation please inform all your family members, even if you do not talk them regularly. Send an anonymous letter that states a family remember has tested positive for this genetic mutation and here is how that could affect you. Personally, I feel like it should be like with STD status and illegal to not disclose this information to those it can affect.
For the record I’m not upset with my cousin, because she did not know who spoke with who when she was diagnosed and probably assumed the older generation would put their crap aside and inform everyone. I’m upset with my father and his siblings for not being able to put their differences aside to ensure every one of their children knew the risks in the family.
This toxic withholding of life-changing information pattern ends with me. I will be sure to inform all family members so they have all the information they need to make the choices I missed the opportunity to make, even if I have to use a private detective to get addresses to send that anonymous letter to.
HER2 & Hormone Status
Moving on. Today I got a call from my oncology nurse Stacey. My cancer is HER2 negative. It is strongly estrogen-receptor positive and mildly progesterone positive. Think of my cancer like a flower and the hormones estrogen and progesterone as fertilizer. For my cancer, estrogen is a great fertilizer and really makes it grow; progesterone is an okay fertilizer and makes it grow just a little.
Does This Affect My Chemo Treatment?
This information does not really affect the plan we had for chemo. It was always going to be a two part process with Adriamycin and cyclophosphamide followed by paclitaxel. It does add the option of a clinical trial where I have a 50/50 chance of getting an additional drug called Keytruda. It also means at some point we have to stop or slow down my production of estrogen and progesterone. I will learn more about that tomorrow at my chemo education appointment.
So that’s that. Being hormone positive increases my chances of survival versus being strictly triple negative, which means having nothing that makes the cancer grow. Everyone is excited to the increased survival chances, but I am very worried about quality of life. I will have to stop my body from producing estrogen and progesterone at some point to decrease the likelihood of this cancer coming back. There are long term medications that I can take to do this but I have read terrible things about their side effects. I’m trying to remind myself people only post about the negative most of the time so maybe I won’t have side effects. I don’t even know what my options are so I’m definitely putting the cart ahead of the horse a bit. I don’t even know if I’ll beat this and get to that point of long term medication! Slow down Julia!!!! One battle at a time.
Going Forward!
Tomorrow we meet with oncology at Methodist to discuss the plan moving forward. Friday we meet with the med center for a second opinion. After that, we will see what happens. Should get a start date for chemo soon! We got this warriors.
I’m on board with the communication of genetic mutations, etc. and passing that information along. My own mother, who had breast cancer and has a genetic mutation, cannot (or will not) tell me what that gene is. Her own sister had the same type of breast cancer. He other sister died of bladder cancer. Her brother had leukemia. There is a link. And BTW: my mother is a NURSE. Information is key! Knowing more than you may need to know, for me, is power.
Ohhhh goodness. Well it’s nice to hear somebody else is in the same exact boat as me!!! I’m pretty sure I got the gene from both parents but ??♀️??♀️
I agree that knowledge is power!
So informative and well written, my dear granddaughter. I have friends who tell me the same about it. No words on how I feel about it, folks know. Love you.
You certainly have a good understanding of your cancer. I’m sorry to hear that the genetic testing showed some mutations that affect your chances of developing various cancers. On the other hand, knowledge is power, and you described that well.
I also had adriamycin 21 years ago. I had paclitaxol 6 years ago and again this year.
Apparently I have a small amount of estrogen being manufactured from testosterone that is produce in the adrenal gland. This is possibly why my cancer has returned twice. I will be taking an estrogen suppressant at some time in the future. I too have heard the negative stories of being completely estrogen-free—but the alternative is not pleasant either. Hopefully I can manage the side effects.
My understanding has always been that with the chemo you will likely have, you will be in instant menopause. Unless you are prone to ovarian cancer, would you need an oophorectomy?
As a person of science and knowing your lifestyle, I feel certain that you understand that there is nothing that you did that caused this cancer. Just recently I apologized for the life we have been living since my most recent diagnosis . His response was, “You should not feel badly; you have to live with the cards you’re dealt.”
Oh goodness my dear Coleen!!
Well first off I only have a good understanding because of my medical background, research, and the great docs at the Nebraska cancer specialist making sure I understand. But thank you! Knowledge is power for me for sure.
This is interesting about your cancer and the adrenal glad. Now I’m curious about that and it may be some 2AM can’t sleep research because science is so interesting.
You know I hear what you’re saying about the estrogen suppression. I took hope for minimal side effects. Nobody every sings the praises of these drugs and we only hear the bad stories, not good. So I’m hoping it’ll all be easy for us both, or at least minimal.
My gene mutation does increase ovarian cancer risks so it’s something to consider but no decisions need to be made right away. One battle at a time right?
What a nice informative blog! I even learned a little bit, here. Is it too early to joke about the beard you might have from the lack of estrogen? I promise, I’ll help you pull those chin hairs out! LOL.
Damn it Anne! I DIDNT EVEN THINK OF THAT! How am I gonna be Dolly Parton with a dang beard?
Well, there’s always barnum and bailey circus. They always need a bearded woman- bwahaha! I promise, I’ll make sure you don’t take those chin hairs out in public with you. 😉
Julia .. wow, this was so informative and you did a great job explaining all of this. I will continue to keep you and Mitch in my prayers ( as well as your wonderful Grandmother !) …
Thank you for sharing the medical explanations with us – although I imagine that your medical knowledge can feel both like a blessing and a burden. I hope that your oncology visit today went well and that the second opinion tomorrow helps to clarify things rather than muddying the water.