Monday, September 22, 2014

Plan Of Attack

To say that I am impatient is an understatement.  Throughout this journey I have not been able to deal with the anxiety of the unknown and with only having two more Herceptin appointments left until I start Tomoxofin, the anxiety of what my future holds was a very scary thing for me to deal with emotionally.  I said here that I found the most amazing Genetic Counselor and she set me up with an appointment with Dr. David Dimmock to go over my options regarding my Li Fraumeni diagnosis and scheduling scans, tests and go over my game plan.  The knowledge that this man possesses about Li Fraumeni and the TP53 gene was a breath of fresh air.  I always bring my mom and the hubs with me to appointments like this because the amount of information told compared to what I am able to retain in such a short period of time is impossible, so having them there helps to remember the pieces that I don't, and needless to say I was VERY happy they were with me!

I was delighted to find out that he, along with a few other doctors had a little pow-wow about my case on Monday.  Apparently I'm a unique case.  Like I said here, both my parents were tested and came back negative to carrying the gene mutation, which makes me de novo, which is a special word that means somehow it just started with me.  Kind of neat, and scary at the same time. I knew I was always a unique kind of person, but to realize that 7-20% of people who carry this already very rare mutation are de novo is kind of crazy and on top of it in so many words I found out that my TP53 mutation has a mutation on top of it (kind of).  The geneticist told me that they were able to determine that my TP53 mutation has a Truncating Mutation which puts me at the lower end of any percentage chances I have of getting another cancer.  So, in a hypothetical situation, just say the chances of getting Leukemia were 10%-25%, having the Truncating Mutation would mean I would have be on the lower end (10% chance) of getting Leukemia in my lifetime. (I actually am not sure on the exact percentages but I'll take the small sliver of positive out of this situation).  To learn more about Li Fraumeni and TP53 and how it works, or doesn't work, this article is amazing!

He proceeded to go over all of different surveillance methods that I will be going through:
  • Colorectal cancer surveillance (Colonoscopy)...Just what I always wanted.
  • Skin cancer surveillance....Yahoo!
  • Sarcoma surveillance (Whole body MRI scan)...YOLO.
  • Brain tumor surveillance...If I have one.
  • Leukemia surveillance... Lovely.
On top of that the hubby and I have decided to move forward with the PGD testing next March.  My anxiety is through the roof not knowing how many of the embryos are affected, if any, or all.  So by at least having an approximate time of year, gives me the peace of mind that at least we can get this process rolling.  I will be scheduling an appointment with Dr. Estil Strawn to go over the process, timeline and all of the details.

So in a nut shell, I will be getting a crap ton of phone calls in the upcoming week to get all of this scheduled before the end of the year.  Why would I want to jam-pack the rest of the year with this many appointments and fun stuff? Definitely not because I want to, but more because I'm on a roll and with my deductible already met, why not?

I am so happy to have such a team of doctors surrounding me, but at the same time it scares the crap out of me that I have to have a team of doctors.  Saturday I was working and the entire time I kept thinking about "the worse case scenario" and what if a cancer comes back.  I obviously know I would do anything and everything to take care of business, but having those thoughts scare me.  I try to just push them to the back of my mind and think on the positives but I feel that a lot of times those scary thoughts overshadow the positive.  I guess it's human nature to always think the worse, and hope for the best.  Well, all of this stress has been weighing on me and unfortunately the hubby had to deal with the hot-mess of his wife when I got home from work.  He is a saint, my rock and without him I don't know what I would have done.

When I was diagnosed with breast cancer I was scared out of my mind, but thought, "All I need to do is get through this and I'm golden and I can move on with my life."  I knew I was strong enough to beat it, but finding out about the Li Fraumeni Syndrome scares me to the core because it is something that no matter what I do or how much money I can scrounge out of my couch, if cancer wants to get me, it will.  If it does, I fight again, that's my nature.  Right now I just need to remember to stop worrying about stuff that I cannot change and enjoy the happy moments in my life.

no worries, worry, breast cancer, li fraumeni, stress, anxiety, nervousness, nervous

To end this on a VERY positive note, amongst some of the negativity in my life, when I initially met with the genetic counselor at Froedert and wanted the second genetic test done she also advised that I have another vial drawn and sent off for the Family Prep Screen Test to primarily test for Cystic Fibrosis because if I was a carrier, then the hubs would get tested and if he carried then during the PGD testing the embryos could be tested for that as well. This test is a simple blood draw, usually costs approximately $100, but is almost always covered by insurance and tests for a variety of diseases and mutations that a parent can pass down to their child. 

Here is a list of the 101 diseases that are tested for.

Well, when I asked her about my results she said that she had received them and frankly she was nervous to open the packet.  She also said that most people are a carrier of some sort of disease-causing mutation but to my delight she gave me the following results....

"No known or potential disease-causing mutations were detected"!!!!!!!!!!!!!!!!!!!!!! 
I am not a carrier!!


  1. The fact that you chose to learn more about your genetic/hereditary cancer risk shows that you believe in being in control (not in a bad way... right? ;-) ).
    This is the first step. You cannot change your genes, but you can change your future. Even if it takes some rather unpleasant tests...

    Best of luck! Keep informing the public as you do...

    1. Thank you! I appreciate your support! I figure if I have to go through this, I might as well raise some awareness!

      Emily C