Friday, October 11, 2013
My BRCA2 Journey: JakoPisek.blogspot.com
Oh goodness! I am laughing out loud right now! I posted inadvertently about something that isn't very SMMART...some of you caught that post:) I have since moved it over to my other blog where it was meant to be posted in it's proper place. Sorry about that.
It's a good reason to share a little about me right now. I had been meaning to talk about my other blog where I have been journaling about my journey with the BRCA2 mutation gene.
"BRCA2 (breast cancer type 2 susceptibility protein) is a protein found inside cells. In humans it is encoded by the gene BRCA2.[1] BRCA2 belongs to the tumor suppressor gene family,[2][3] and orthologs have been identified in most mammals for which complete genome data are available.[4] The protein encoded by this gene is involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double strand breaks.[5][6]
Although the structures of the BRCA1 and BRCA2 genes are very different, at least some functions are interrelated. The proteins made by both genes are essential for repairing damaged DNA. BRCA2 binds the single strand DNA and directly interacts with the recombinase RAD51 to stimulate strand invasion a vital step of homologous recombination. The localization of RAD51 to the DNA double-strand break requires the formation of BRCA1-PALB2-BRCA2 complex. PALB2 (Partner and localizer of BRCA2)[15] can function synergistically with a BRCA2 chimera (termed piccolo, or piBRCA2) to further promote strand invasion.[16] These breaks can be caused by natural and medical radiation or other environmental exposures, but also occur when chromosomes exchange genetic material during a special type of cell division that creates sperm and eggs (meiosis). Double strand breaks are also generated during repair of DNA cross links. By repairing DNA, these proteins play a role in maintaining the stability of the human genome and prevent dangerous gene rearrangements that can lead to hematologic and other cancers.
Like BRCA1, BRCA2 probably regulates the activity of other genes and plays a critical role in embryo development." (http://en.wikipedia.org/wiki/Genes%2C_brca2)
When I was in 7th grade and my mother was a year younger than I am now, my siblings and I sat on the floor around the couch while my Dad had his arm around my mom explaining to us that Mom had breast cancer. This spring my Mother passed away after her fourth battle with cancer.
BRCA gene carriers don't just have the fear of "getting cancer" ONCE... it's an unlimited amount of times that we can get cancer...over and over and over and over...just like Mom. Our risk is an 87% chance of getting breast cancer...over and over and over and over...
And it's not just Breast Cancer, but our risk is a 50% chance of ovarian cancer, as well as increased risks for uterine, peritoneal and other female cancers. When I discovered I had an increased risk for ovarian cancer, that almost frightened me more than the breast cancer. Ovarian cancer is nicknamed "The Silent Killer"...because it's difficult to detect and once it is detected, it's progressed so much that there really isn't any good treatment to stop it.
During the time my Mother was fighting with her 3rd appearance of cancer, the BRCA gene had been discovered and a test was available. She tested positive for BRCA2 and strongly urged us girls to be tested. I had just had my second daughter and through the help of a genetic counselor, I was tested for the BRCA2 gene mutation.
I remember following the genetic counselor into her office, trying to read her face as we sat down. "Well, what do you think the results were?", she asked me. I replied politely that I didn't know, but inside I was suppressing the impatience at being asked such a meaningless question. What did it matter what I think the results were? Why are we wasting time? You know the results, just let me know!
I tested positive and my sisters, who were also seeking guidance and testing, tested negative for the gene.
In a way, I was grateful that it was me. I am the older sister. I had the support of a husband and had resources making it possible for me to receive whatever treatment I needed. But then again, I was the only one of us three sisters who had children. When I heard that I was a carrier, my heart squeezed in fear of what that meant for my own two girls.
In reality, because my mother had fought cancer 3 TIMES and WON!, I was reassured that no matter what, even if I had to go through this cancer ordeal over and over that I would win! Yes, it would be disruptive, but I would do what I had to do to be HERE for my husband and children.
This past November, cancer was found all throughout my Mother's body. She had a mini stroke from the cancer in her brain. It was in her lungs, her pelvis...she only had scars where her breasts were previously, so it probably would have been there too.
As she died this year, a part of my hope for a full future with my own family was suddenly threatened. My Mother who was so strong and so amazing... had to fight against a giant this time.
After our third little girl was born, my oncological gynecologist counseled that "you never know if you'll get cancer or not in the near future", but he suggested we go ahead and have another baby that we wanted to have. He felt that one more would be fine, but after that, my "clock was ticking" and I should probably strongly think about having the preventative surgeries I was considering.
As soon as I learned that I was BRCA2 positive and heard that the most effective way to reduce my risk was through prophylactic surgeries, my mind was already made up.
I had a full hysterectomy/oophorectomy in September. I was blessed that no cancer was found when they searched around for any cancer during my hysterectomy/oophorectomy. After researching and interviewing physicians, I scheduled my mastectomy for January. It's a scary thing, trying to know WHERE to start and WHO to use for a surgeon!
When Mom was battling this fourth time, I told her there was no way I could go ahead with my mastectomy! With no hesitation, she firmly pushed me forward as she laid in bed those many months.
It was such a blessing to spend my recovery time close to her. I had more time to be with her than I would've otherwise and for this, I am so grateful.
The last time I visited my Mother, I held her hand and sang her favorite song to her. She looked at me, but couldn't make expressions or move. A kiss and I was back to my mothering duties... I so regret that I didn't stay longer.
So, I write down my experience, my thoughts and my hopes to share with my girls as they grow. I want to hold their hand and help them through if they carry this gene or if they experience something similar. And if I'm not here to hold their hand, then I hope this blog will bring them strength.
You can read more about my BRCA2 experience, my thoughts, about my hysterectomy/oophorectomy, double mastectomy and reconstruction at http://jakopisek.blogspot.com/. I hope it's a resource for others.
Subscribe to:
Post Comments (Atom)
3 comments:
I am a 48 year old breast cancer survivor. I had a lumpectomy this past December. Like you this topic has always been on my mind. My mom passed of breast cancer 11 years ago this October. and her mom 20 years before that. My gene test was negative but cancer still found it's way in. I hate bras, have always hated bras so I say enjoying the freedom away from them! I wish you all the luck in your future. I would have made the same decision you made
BabesinHairland.com: So glad you're doing a bit better these days. Such a rough time you guys have been through over the last while. I'm so sorry you had to go through all that, but glad you took preventative steps to help. I wish some days I didn't have to wear a bra, but I honestly go insane if I don't have one on! Good luck adjusting and hope things "soften" up as time goes on. :)
Oh, Lisa, your bravery is so inspirational and I'm so very thankful for you that you're sharing your story. "In a way, I was grateful that it was me." I remember thinking the same thing when my mother told me that I shouldn't be the one with breast cancer. But I, too, was glad. There is a large community of people living with HBOC syndrome and they need a voice. Thank you for being that, opening up, and educating others. You are such a blessing!
Post a Comment