In the midst of all this chaos, I received news that my genetic test results came back. At the time, I was so overwhelmed with getting through the egg retrieval and getting started with chemo I don’t think I realized how important these results actually were. I scheduled an appointment with a specialist at CCNW to review the results. This was an hour long appointment… then I realized how important this may be.
BRCA 1 mutation: positive
NTHL1: carrier
What the hell is that? What does it mean? What do I need to do about it?
BRCA (breast cancer gene) 1 mutation is a genetic mutation that can be passed down from one or both parents. It can be passed down without any signs or symptoms of either parent having a genetic mutation. It can also be “dormant” and not show up on a genetic test. It could have randomly sparked up in me without being passed down from one of my parents (however this is VERY rare). So, what to do now? Have my parents be tested and my 2 sisters. Depending on their results would determine if my nieces, nephews, cousins, grandparents or aunts and uncles should be tested. So the entire family tree is now involved. Crazy.
One of my sisters was tested pretty soon after. Negative. Next up, Daddo. Positive.
Now, like I have mentioned I haven’t had much emotion throughout this process and these tests were just another thing that needed to be done right? Wrong. When my dad called me to tell me he got his test results back, he could barely get it out. He felt guilty for passing this gene on to me. His daughter. However, there is no way he could have known! I told him that yes, you may have given me this gene, but you also gave me all of my other genes who have made me who I am. I would never take that back.
These genetic tests take time and money believe it or not! $600+ for my sister to get a test done that could possibly save her life. Ridiculous. And it takes months to get results! So here we are, over a year later. Still chipping away at getting grandparents and other family members tested to make sure no one else is at risk.
So what are the risks:
Female: up to 51% risk of breast cancer and up to 23% risk of ovarian cancer with an elevated risk of pancreatic cancer
Male: 1.2% increased risk of breast cancer, 9% risk of prostate cancer and an elevated risk of pancreatic cancer
Now, going forward when my husband and I want to have children, our kids have a 50% + chance of getting this gene mutation. BUT, remember that egg retrieval I did? I guess they can test the embryos for the gene mutation before implantation. This also means, that instead of trying naturally for a child, we would have to follow through with IVF. Being almost a year out from chemotherapy, they are recommending we wait another year before starting this process. So more to come on that.
Mandafit 