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Genetic Update

I met with the geneticist on Friday and she didn’t talk me out of the genetic testing so I decided to do it. She gave me a testing kit which will allow me to have the blood drawn (just one small tube) during my (last!) chemo treatment on Thursday. After that I will pack it up and send it off to the lab myself and then will have the results in a couple of weeks.

The good thing about the appointment was the chance to learn bit more about how all of this works genetically. There are three possible results for the blood test: positive, negative, and variant of uncertain significance which basically means “inconclusive”. One interesting point is that even if the test is inconclusive or negative, it doesn’t mean that there is not a genetic element to this. The test today only tests for BRCA 1 and 2, but doctors and researchers believe that there are more than just those two genes…they just can’t test for them. Yet.

Another important aspect of this, for me, is the fact that they don’t do the test for people under 18 because they require informed consent. I have to admit that I was relieved when the doctor told me that, because it gives me time to think about all of this before I have to even consider having Karly tested. If my result is positive, insurance would probably pay for her to be tested, as well. However, as an added comfort the doctor suggested that she really wouldn’t need to be tested for another decade or more, and pointed out that by then we will know so much more about breast cancer and about the genetics of all of this that it will be a different process. That also made me feel better. I don’t know if we will wait that long, but I do know that the older she gets the more say she will have in whether or not she wants to have the test done. We will just cross that bridge in the future when we come to it.

Some of the same questions remain for me, such as what to do with a positive result. I am pretty sure I know what I will do with a positive result, but I am just going to glide for these next few weeks and try not to even think about any of it until I actually receive the results. If it’s positive, I’ll figure it out then and then my mom/sister/cousins can also decide what to do with the information.

Comments

Hi, Kim-- What a difficult decision this must have been to make... but, the result could really help to determine your future health care, as well as that of your family members. I am absolutely certain that the knowledge could be used to huge advantage.

Looking at your stats tonight-- it's you by a LANDSLIDE!! Congratulations, my dear! I hope, above all, you feel how very much you are loved.

xo CGF

I'm glad you are more informed about this and feel somewhat "better" about it. I love what you were told about Karly...that you wouldn't need to do this or think about it for at least another decade and things may well have changed by then. Oh wouldn't that be the most beautiful news?! Let us hope and pray that that is true and that within the next decade we will have made even bigger strides in treatment, identifying cancers and erasing them.