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Journey to Health

Down the Line

9/12/2024

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 I had a genetic test done after I began my treatment (enfortumab vedotin + pembrolizumab / Padcev+Keytruda).  This treatment performed so well in its phase 3 trial that no pre-testing (e.g. for PD-1 ) is required for patients presenting with locally advanced or metastatic muscle invasive bladder cancer.
I did request genetic testing where I found I had a  PD-L1 CPS score of 10, which indicated that Keytruda should be effective (there is currently no approved biomarker to predict effectiveness of Padcev).
I also had germline testing. This is a genetic test that looks for inherited mutations in your DNA that may increase your risk of developing certain types of cancer. These mutations are present in virtually all cells of your body and can be passed down from one generation to the next. I wanted my daughter to be aware of any mutation that might increase her cancer risk.
The test found one variation in the CHEK2 gene.  When the results came in I met with a genetic counselor who told me that the most recent data suggest a possible increase in breask cancer risk - but that the probability does not warrant any more than the screening which is currently recommended for all women.
Germline testing for cancer patients is currently underutilized - I am glad, for my daughter's sake that my oncologist suggested it.
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    I began a health journey in the fall of 2017 - losing 100 lbs and reversing type II diabetes.
    In September 2024 I was diagnosed with muscle invasive bladder cancer.

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