Monday, July 14, 2014

Getting Retested

When I initially had the full panel genetic testing done last year I found out that I had a genetic mutation in the TP53 gene, otherwise associated with Li Fraumeni, which my genetic counselor told me I met the qualifications to have it. Being diagnosed with Li Fraumeni meant that it was a certainty in my life time that I was going to get cancer. From that I moved on to have my parents tested. They were both negative. (Which was amazing)! I started to get suspicious when I heard that two other women were diagnosed with Li Fraumeni at the same time as me, through the same hospital. I find it a little fishy as that Li Fraumeni is supposed to be EXTREMELY rare, 50% of the time it is passed down by a parent, and to get it randomly is EVEN MORE RARE.  It is estimated that 400 individuals from 64 families reportedly have this across the world.

I have also ready studies on the harm of the facilities that run the tests for genetics and how some of their results are not as they should be, affecting peoples care.  Read here if you're interested.

Below is the apparent criteria used to determine if someone has Li Fraumeni: (source)

Diagnosis[edit]Li–Fraumeni syndrome is diagnosed if the following three criteria are met:

1.The patient has been diagnosed with a sarcoma at a young age (below 45),

2.A first-degree relative has been diagnosed with any cancer at a young age (below 45),

3.And another first-degree or a second-degree relative has been diagnosed with any cancer at a young age (below 45) or with a sarcoma at any age.

Other criteria have also been proposed:

The Birch criteria[6] 1.A proband with any childhood cancer or sarcoma, brain tumor or adrenal cortical carcinoma diagnosed before age 45

2.A first or second degree relative with a typical LFS malignancy (sarcoma, leukemia, or cancers of the breast, brain or adrenal cortex) regardless of age at diagnosis

3.A first or second degree relative with any cancer diagnosed before age 60

The Eeles criteria[7]

1.two first or second degree relatives with LFS-related malignancies at any age.

The ONLY one that applies to my situation is that I was diagnosed with breast cancer at 27.

While in talks with my genetic counselor, she told me that she would send me information regarding it, resources and articles to read. Did I get them? No. When I saw her at the hospital, did she acknowledge me? No. It was almost like after a guy breaks up with you and you see him out and he does the complete avoider...looking down at the ground and/or talking on his cellphone pretending you don't exist. That's what she did to me when I was going in for treatment. Did she pursue helping me with after treatment and getting me information regarding secondary testing? No. Needless to say I am VERY disappointed with that portion of my care.

I have also been nervous because of the cost of PGD testing.  I decided to talk to a different facility, so I called Froedert regarding this and spoke with the most informational person!  She helped me out a ton and told me that they cannot do PGD testing on my embryo's and directly implant them.  Which is what my original genetic counselor told me.  My original genetic counselor also told me that there was NO way to unfreeze the embryo's, test them, then refreeze them.  I did learn that it can compromise the stability of the embryo, but the positive out weighs the negative in this situation.

It is really terrible that someone that is supposed to help you, doesn't seem to care.  But FINALLY, after nine months, I am ready to move onward and figure this out.  If the results come out positive, then I know for sure.  If they are negative, holy crap the amount of money that will be saved and the weight that will be lifted off my chest (no pun intended)!  I've made some phone calls and now am waiting to hear back and get this test scheduled!

All I've got is hope right now that the testing facility was wrong!

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