Tuesday, April 9, 2013

Genetic Counselor Notes...

  I was at my computer tonight, emailing a couple people in regards to my husbands PCS, and I decided to reread my genetic counseling notes. You know when you watch a movie a second time, and you realize that you totally missed things the first time around? That is kind of how I feel when I reread anything with medical information. So, as I am perusing through the notations that the doctor made, a few things caught my eye.

 1) Damn (excuse my language) what a messed up family tree I have. Breast cancer, throat cancer, skin cancer, still births, accidental deaths. I swear, looking at it and facing the reality amazes me. What the heck? No wonder I am afraid of death...I have been around it more than most people twice my age. I know the devastation it causes...and trust me, you NEVER get used to losing a loved one.

2) The first paragraph in the "Assessment" is as follows: "Katie (my full name though) is a 27 year old woman who is cancer free, but has a strong family history of breast cancer in her mother's side of the family. Although her mother tested negative for BRCA1 and BRCA2 by sequencing, extended rearrangement testing (BART) was not preformed. Given the many generations of breast cancer in her maternal relatives, as well as the presence of ovarian cancer, we are suspicious that there could be a mutation in BRCA1 or BRCA2 that was not detected with the previous genetic testing in her mother. Another possibility is that a mutation in a gene other than BRCA1 or BRCA2 could account for the hereditary breast cancer susceptibility. We are highly suspicious that her mother had an as-yet undiscovered mutation that leads us to the conclusion that 'Katie' has as high as 50% chance to carry the mutation that would predispose her to breast and ovarian cancer. However, additional genetic testing would likely not be informative given the limitations of testing in an unaffected individual and the already negative genetic testing in her mother". So, I think to myself, could my Mom's test have been wrong?  If it wasn't, and its not BRCA1 or BRCA2, what is it? When I start to wonder, I only get agitated that there is no way to possibly test for anything else, unless I actually get breast cancer. It makes me want to scream that there isn't more research in the genetics of cancer. And, how do they come up with my percentage, even though, we don't even know exactly what it is that has caused EVERY. SINGLE. WOMAN. IN. MY. DIRECT. FAMILY. TREE. TO. DIE. FROM. BREAST CANCER? Notice my shouting on that? Good grief. I cannot wait for the day that more research becomes available, and I can be tested to know what in the world is going on.

3) Furthermore, "We reviewed her family history and explained why we feel that it is likely that her mother did have a genetic predisposition to cancer, that she herself may have inherited. We discussed autosomal dominant inheritance and the implications for herself and for other family members. We discussed the limitations of genetic testing and the reasons why additional genetic testing in her right now would not likely have a high yield. We did counsel her that considering additional genetic testing at some point in the future might be reasonable. Hopefully we will have improved genetic testing that will allow us to further clarify her risk in the coming years". YES...PLEASE, before my daughter grows her own breasts. Please, let there be more of a paved path for her, than there has been for my family. I can only pray that as the genetic testing advances, more lives can be saved.

4) Thankfully for this paragraph, maybe my insurance might take a PBM seriously. "Given the very strong maternal family history and her substantial risk to carry a highly penetrant cancer predisposition mutation, we feel that it would be warranted for her to have a consultation with a breast oncology surgeon and plastic surgeon here at UNC to further discuss the role of prophylactic mastectomy with reconstruction. In addition, we would like her to be seen by Gynecologic Oncology to discuss a prophylactic bilateral salpingo-oophorectomy at some point in the future."

So, ultimately, those are the cards I was dealt. As I get older, I accept it even more. At least for me, I can accept it and do what I need to, to try and fix it, and break the trend. As my daughter, and even my son grow up, I'll be like a volcano, ready to erupt, if there is not more information in the genetic testing department. All I can do is pray and think positively. This trend stops here. If, for some reason, I end up still getting cancer (because, it CAN happen...I need that to be known, so I don't blow smoke up everyones behind), I'll fight just like my Mom fought, with grace, dignity, and her heart 110% in the battle. For now, I am saying that I WILL NOT get breast cancer, because I want to believe in my 90% success rate. I was meant to break this cycle. If I wasn't, then I wouldn't be in this position today. In a way, as odd as it sounds, the women in my family have saved my life. They have fought and gone...and because of them, in a strange way, I get this chance to live. I feel like I can see my Mom, up in heaven, with a puppeteer stick...and me just dangling from it. I know she has everything to do with this urge in my body to fight this, to change this pattern. She paved my path. She, ultimately, saved my life.

1 comment:

  1. Katie I am so proud of you. There is Research out there for different types of breast cancer. However they are only Clinical Trials at this point. Baby steps to the future.