Monday, August 6, 2012

Cathy is on the uptick, but still pretty tired.  She went with her parents today to visit the genetic counselor.  For Cathy, this appointment confirmed what we expected.  The percentages tell us that she should have a bilateral mastectomy and later on a salpingo-oophorectomy, which is removal of the ovaries and fallopian tubes.  The ovaries are not the most pressing of issues and can be monitored with CA125 blood testing until they are removed.  This is also a discussion that will involve the surgeon or surgeons, not one to be made solely by Cathy, me, and the genetic counselor.  Here are the risk percentages for various cancers given her BRCA1 gene mutation.  Having breast cancer, she has a 15% risk of ovarian cancer compared to <1% of the general population.  She has a 27% risk of developing another breast cancer after five years compared to 3.5% of the general population.  She has a 64% risk of developing another breast cancer before she's 70 compared to 11% of the general population.  So, the evidence for the bilateral mastectomy and salpingo-oophorectomy is pretty compelling.

Marty and Jayne had blood drawn today to see if either of them are mutation carriers.  They seem to not show symptoms, neither of them having had breast, ovarian, prostate, or pancreatic cancers in their lives.  Those are the other types of cancers associated with a mutation of this particular gene.  Dr. Drosick mentioned the possibility of a spontaneous mutation.  If Marty and Jayne come back negative then the mutation would be spontaneous.  A spontaneous mutation would be a good thing because that would mean that Cathy's brother's family is not at risk from his contribution to the genetic pool.  That wouldn't mean safety for Jonah, Aaron, or Clara, but would at least mean that Jonathan's family is at a lower risk than if Marty or Jayne carried the gene.

Pretty crazy stuff.  We learn new things every day - as we should - to try to stay informed and ready to make good decisions.  Many decisions lie ahead in the next 8-12 weeks.  We need prayers for wisdom and guidance!

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