Tuesday, January 14, 2014

The Results Are In....

So as you know I had a full genetic panel done and found out that I had a TP53 gene mutation (Li-Fraumeni) that led to me getting breast cancer. I had a lot of questions and concerns regarding if this was passed on to my from either my mom or dad, since there is a 50/50 chance that this this mutation is passed down by a parent. My biggest reasoning for wanting to know was because I have a niece on my dads side and a nephew on my moms side and dependent on the results would urge me to inform my siblings to get them tested.

Well...both my mom and dad got their results from the Li-Fraumeni test....

My mom. Was negative!

 My dad. Was ALSO negative!

I was SO happy to find this out because now I don't have as much of a worry for my niece and nephew. But then it got me thinking. To get Li-Fraumeni (TP53) is rare, and even MORE rare to get it sporadically. So I have decided to get a second test done to confirm whether I do or do not have it. I am not saying that I don't trust my Genetic Counselor, or the place that did my testing; but I want total peace of mind. My family agrees also, so I am looking into having the test conducted at a completely different hospital and obviously a completely different testing facility. Now that I am done with chemo, I am ready to take on this task. If I have it, then I will deal with it. But I want to be 1000% sure because that will make the difference of thousands of dollars spent to test my embryos.

I'm holding onto a sliver of hope right now that maybe, just maybe they were wrong.

1 comment:

  1. Glad to hear some good news Emily. I'm praying for a miracle.