Chemo #4 and my Genetic Testing Results

It literally feels like its only been a week since my first chemo treatment but I've finally reached and am done with the first half of my treatments.  Not only do I no longer have to be on Cytoxin (which gave me a wicked sinus headache while getting it) but now I'm hoping its all down hill from here!!

So far I haven't been AS tired as my last chemo and thankfully we had my Neulasta shot scheduled early enough today for the hubs to drive me to a from the hospital.  Also, **Knock on wood** I haven't had to take any of my anti-nausea meds besides my patch, and I have an appetite too...so I'm not sure if my whole "chemo diet" is going to work....damn.

I originally had the meeting scheduled for Monday, but I had this little thing that I like to call "chemo brain" and COMPLETELY forgot about the appointment till around 11am....  So, I got the appointment rescheduled and after I got my shot today, I had a meeting scheduled with my Genetic Counselor.

Before I started my first chemo, I had some blood drawn and sent off for full panel genetic testing to see if my breast cancer could be linked to anything or if it was the environment.  My original genetic counselor, along with my current one were so confident in the fact that I have NOT been around long enough to have gotten this from the environment.  So all those years of me using deodorant, microwaving food in Tupperware, watching my food heat up in the microwave, drinking regular or diet soda, etc.... were not contributors to why I got breast cancer.

The reason why I got breast cancer was because my panel came back where I had a genetic mutation in my TP53 gene, which is a tumor suppressor gene that everyone carries and helps get rid of any growing tumor cells.  Since mine was mutated it cause my breast cancer to grow and become aggressive and it is otherwise known as Li-Fraumeni Syndrome.  Li-Fraumeni Syndrome is very rare syndrome that makes my chances of getting cancer in my life time 100%.  Not 50% or 60% or even 80%....it was an absolute guaranty that I was going to get cancer.  Go figure.  And my chances of getting a second cancer are heightened.  Most of the time people who are diagnosed with this syndrome get some sort of cancer in childhood, so I must have been doing something right when I was younger to not have gotten anything then, and my genetic counselor was surprised as well.  I am blessed that some how I dodged that  bullet and was able to have a fun childhood, filled with tons of happy memories with great friends.

To be frank, I am scared.  Not only was I diagnosed with breast cancer, but having Li-Fraumeni I can also get other types of cancers such as, soft tissue sarcoma, brain tumors, colon cancer, Osteosarcoma and Adrenocortical carcinoma.  The positive thing about having this is that now I and my doctors can keep an extra close eye on me.

I also found out that having this syndrome/gene mutation increases my chances of getting cancers caused by radiation.  One reason why I am blessed that I followed my gut and went with the double mastectomy because if I would have just gone with the lumpectomy and 6 1/2 weeks of radiation, I probably would have gotten a different cancer.

I was also told today that because I have this, there is a 50/50 chance of passing this on to my kids.  So there is a chance of three of my six embryos that are literally "chilling" out right now could possess this mutation.  But within that, the true miracle is that there is Preimplantation Genetic Diagnosis (PGD) testing on embryos. That means that when the hubs and I are ready to have kids, we can elect to have this testing done on our embryos to determine if they will carry this gene, and we can make the decision not to use the embryo(s).  I know for some people this may be difficult to hear.  How could we just give up on a future baby?  I am looking at it as we are saving this child from having a 100% chance of getting cancer if she is a female and 73% risk if a male.  While not everyone would agree with mine and the hubs' decision, we would choose not to use them because I would not want to look in my child's eyes if they were diagnosed and say" I knew you were going to get this."  I am absolutely not taking that risk.

Li-Fraumeni Syndrome is typically passed down from a parent, but occasionally can start with the individual and stem from there.  I called my mom right after my appointment today to see if she would be interested in getting the TP53 gene test done and she was right on board.  I haven't had a chance to ask my dad yet, but I'm sure he would be on board to confirm either way!

I knew when the genetic counselor called and wanted to meet face to face that they must have found something, but once hearing the results I have found myself today wondering what the hell did I do to deserve this.  I feel like I have caught some sort of plague and to be honest I am more afraid of having this gene mutation/syndrome then actually being diagnosed with breast cancer because I feel that I will always have this shadow or fear over me that I could get another cancer in my lifetime.  For heavens sake I'm only 27 so I guess I feel like the odds are stacked against me right now....