Puzzle Pieces

With my diagnosis my Oncologist had recommended I have a genetics test completed to determine if I had the BRCA1 or BRCA2 gene mutation. Given my age and not having any family history of breast cancer she wanted to look deeper. For those of you that aren’t familiar with what those are let me tell you. The BRCA1 and BRCA2 genes are genes that are normally seen in the cells of breast and other tissue and are responsible for repairing damaged DNA, or destroy cells if DNA cannot be repaired.

Each living thing is made of genes. The genes tell our body/body parts what to do. When you have a gene mutation that simply means that the gene is broken. Therefore, it doesn’t do it’s job. Another interesting thing is that the gene mutation comes from one or both of your parents. Therefore, it’s hereditary. Some people get cancer and there isn’t a known reason. I got cancer because I have the BRCA2 gene mutation. Therefore, I’m BRCA2+. So what’s the difference between the BRCA1 and BRCA2? BRCA1 mutations are associated with an increased risk of triple-negative breast cancer, an aggressive and difficult type of cancer to treat. BRCA2 mutations increase the risk of breast, ovarian, pancreatic, and melanoma cancers. So now we get into all that.

I had reached out to the genetics counselor within my hospital organization and set up the testing. I would have an extra vile of blood drawn during a treatment, it would get sent off to California for testing and then I’d hear results within a few weeks. A few weeks past and I was sitting at work when I saw the number pop-up on my phone. I took it as I always did when the hospital was calling. After a few short moments I was told that I had the BRCA2 gene mutation which now opened up many unwanted doors. At first, I wrote down all that she said. She continued to tell me more about what exactly it meant now that the test was positive. I was just taking it all in and then she apologized for delivering such news. I called my husband and told him but given we were both at work it was a bit difficult to comprehend what all it meant.

Over the weekend I started to process what she had said and by Monday morning at my next infusion appointment I lost it. I was talking to my oncologist and we discussed the results from the genetics test and I began to cry. If you read my previous posts you are aware that when we sat down with the oncologist for the first time she asked if we were finished having children. Let’s be honest, I had a 3 and a half year old and an 11 month old at home, I was still nursing, wasn’t sleeping through the night, changing diapers, and all the things that come along with these age groups. I had no idea if I wanted more kids. My body wasn’t even healed from the second one I had just had. But now that we knew I had the BRCA2 gene mutation we now knew that I have a higher chance of getting ovarian cancer. How do you remove that risk? You remove the ovaries. When you remove the ovaries you remove the opportunity for another child. That hit hard. I had processed the fact that we may never be able to have another baby but knew that at least my reproductive organs would be there if it were a possibility. Now mind you with my chemo treatment regimen, typically your reproductive organs began to shut down but that isn’t always the case. So now I was being told that I needed to have my reproductive organs removed completely. Some would say, ‘Why not do it? You’re saving your life’, and I do agree but another part of me is dying. Another part of me that brought my children into this world is going to no longer be with me. My breasts are already being taken from me. My hair was taken from me. Time with my husband, children, family and friends has been taken from me so now my ovaries too? What kind of crap is that. Shitty crap if you ask me. Just shitty crap.

As the days past, I began to cope with what the gene mutation meant. I have two beautiful girls that are happy and healthy. They both came to us rather easily unlike so many women in today’s word which hurts my heart so much. And you know, there are so many babies and children in their world that need a good home. They need a roof over their head, a bed to sleep in, hugs, kisses, food. If we decide we do want more children we can certainly have more. They may not be ours biologically but they most certainly will be ours.

Just a few weeks ago, I saw my Dermatologist for the first time in quite a few years. It’s recommended with the mutation that you see a Dermatologist annually to be scanned for any chance of melanoma. Fortunately, I’m good to go with that!! As for the pancreatic cancer, the experts have told me that I don’t need to worry with that given my age. That’s something we’ll certainly keep in mind and monitor as the time comes. The mutation does increase my chances of getting that from 1.5% (a non-mutation carrier) to 7%. I’m keeping my hopes high that I’ll never be included in that 7%.

Ironically, they have connected prostate cancer with breast cancer. Strange, right. I have prostate cancer on both sides of my family. My maternal uncle and fraternal grandfather. TO be safe, my mom had the same genetics test done that I had and she isn’t a carrier so that leaves my dad. He is doing it now and we’re waiting on the results. That’ll mean the chances are increased for my two sisters and even my brother. Yeah, men can have the same gene mutations. It’s been an eye opener on many different fronts. Thankfully my puzzle pieces are coming together. With this journey there have certainly been some rigid edges to the puzzle there certainly have been beautiful pieces, too.

One thought on “Puzzle Pieces

  1. Hi MB-
    My mom and I are going through genetics counseling as well, we had the consultation, blood draw and are waiting on results- my mom is a two time BC survivor ( she is 82) and first diagnosed at 48, and is doing it for me, and I am going through it for my daughter. My dad passed from colon cancer so they are checking all genes as well. My mother in law had ovarian cancer and breast cancer 27 years ago and is still going strong at 85!
    Keep those good stories on the forefront!!!


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