Tuesday, September 2, 2014


I had a second genetic test done at Froedert a few weeks ago and have eagerly been waiting for the results ever since.  I was very excited to meet with this genetic counselor and within five minutes in the room I was in tears.  Not tears of fear, or being mad, but tears of pure happiness because she was so knowledgeable.  While I was still scared for the outcome of the test and my future, as well as our embryos I felt comforted by all of the information she was giving me.  At the end of the meeting, I went over to get my port accessed and they drew five vials that were sent off for the second test.

Well a few days ago I got an email from my genetic counselor telling me that the results were to be coming in and she wanted to contact me.  I had this really happy feeling and kept thinking, well if she wants to tell me over the phone then it must have come back that I don't carry the TP53 gene mutation.  That was not the case for me.  I got a call the next morning and she told me that the test came back and confirmed the same results from the first test. 

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It utterly sucks.  My family and I were really banking on that there was something wrong with the initial test, and that I did not have the TP53 mutation.  I held it together while I was on the phone with her, and she told me that she was going to be sending over a bunch of information regarding different base line tests, scans and doctors that I should get in contact with.  I lost it when I got off the phone.  I held out every little hope that it wasn't true, that the facility was wrong and I could go on with my life in a more "normal" fashion. 

My husband has a way of explaining things to me when I'm upset that really helps calm me down.  He told me that this type of testing is SO new to the market and insurance companies are just starting to cover it, that there are more people walking around with this mutation and do not even know.  I do not want this to come off in a bad way, but for some reason that comforted me.  There is not a lot of knowledge or information collected regarding Li Fraumeni and the TP53 gene mutation.  Apparently there are only a few hundred people who have been diagnosed, but I think there are thousands upon thousands of people who have it and just do not know or do not want to know.

While I am scared for my future and a recurrence, but I am working on having an amazing team of doctors to keep an eye on me, I just wish there was a way to fix all the fears I have in my mind.

On a lighter note, I'm healing every day.  I have soreness and twinging pains where the muscle was reattached from my initial surgery and on the side from where I had the second surgery done, but it is tolerable.  Just recently I formed a beautiful abscess on one of my surgery scars which is causing a radiating pain through my armpit and upper arm area.  Normally I wouldn't have been concerned, but this is the side that I had 20-some lymph nodes removed so I was most definitely worried about infection.  I met with my doctor and she prescribed me some antibiotics which will hopefully help.  Only time will tell!

Now I have to come up with a plan for getting the embryo's tested.  Maybe robbing a bank to come up with the money? Or maybe an easier and safer thing I can do to start out is just look for a foundation that might offer assistance.  If anyone knows of one, please contact me.


  1. Emily, what dreadful news...:( You must be devastated. I'm so, so sorry. I cannot believe this is happening to you. I was hoping with you that the initial results would be wrong.
    How kind and thoughtful you are to thank your husband in your blog at a time like this, when I'm sure you are terribly upset. This goes to show what a lovely person you are and how totally undeserved all this bullshit is.

    Don't forget, scientists are making huge leaps forward all the time. For breast cancer alone the therapies have improved SO MUCH in a mere few years and more and more women get cured and survive. Is there a way you can get in touch with the other people who have been diagnosed with Li-Fraumeni? Again, how utterly bizarre and random that this should happen to you... I'm shocked.

    Whatever happens, I'm here to support you in whatever way I can.

    1. Katerine! I hope things are going well for you?! I was devastating, and not for how it affects me, but that I potentially passed this to my embryos. I know there is nothing I could have done to prevent this, but it does suck and hopefully someday they will find a way to fix genetic mutations (that will probably happen around the time they find a cure for cancer). Or maybe the cure is to figure out how to fix genetic mutations? I truly do appreciate your support, and you as well I am here to support you in whatever way I can too!

      Hugs, survivor!

      Em C

  2. Emily,

    you did the right thing and checked again. You now know so much more than before, so much more in control than you could have been without this knowledge.

    It is not the best news in the world. Far from it.

    Like Katerine said, it would be great to find out others who share the same diagnoses. It's hard, but they are all probably looking for the same thing.

    Take care...

    1. Thank you! I do know SO much more, and although it is scary I will not have a blind eye to my health now. I am looking for support groups, and tried to join one but they still haven't accepted my request. Like with anything, only time will tell!


  3. Hi Emily, I came across your blog from google. I want you to know you're not alone. On Nov 1st13 I was diagnosed with breast cancer. On August 28th 2014 I found out I have Li-Fraumeni as well. I believe the same as you there are probably many more people out there who just haven't been tested. My parents haven't been tested yet but will. I have 2 boys aged 1 & 4 they will be tested as well. I had the same reaction as you. I could handle it just being me but the fact my boys could have this has been really hard. But my genetic counselor said she has patients with Li-Fraumeni who are in the 40s, 50s even an 80 year old who have never had cancer.
    If you ever want to talk my email is lisa_mitchell13@hotmail.ca

    1. Thank you! That is very reassuring what your genetic counselor told you and thank you for passing that along to me! I do hope that your children and parents do not carry it, and I will send tons of positive thoughts your way! I hate that we have this, but at least we can surround ourselves with a team of doctors to keep an eye out! Please keep me posted on what's going on! If you have any questions don't hesitate to ask me! ( ecarriveau@yahoo.com )

      Emily C