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I got my blood test results back on tuesday. It’s very interesting how they tell you. The genetic councilor said “it’s not the results we were hoping for”, which of course, makes you say it. you actually have to voice the words “so I have the gene”.

like somehow saying myself makes it more real.

HNPCC gene mutation is an altered repair gene. a faulty bit of DNA that just doesn’t do its job which results in an increased risk of cancer. It’s hereditary; i got my dad’s faulty gene in the egg/sperm/conception game.

My brother Matt has it too. no big surprise, what with him already having had cancer before being diagnosed with the altered gene.

So. It’s confirmed. I am genetic mutant.

Just dealing with what that means.

2 Responses to “Confirmed Genetic Mutant”

  1. Colleen says:


    I have recently tested positive for HNPCC as well. I am 42, and already had colon cancer when I was 34. I just recently had a hysterectomy due to the risk of uterine and ovarian cancer. After the surgery, they found pre-cancerous cell activity in one ovary.

    My brother has it too, and my other siblings are being tested as well.

    I am not happy to have this gene, though it is good to know – because now I get tested often and can stay ahead of the game.

    For me … I feel vulnerable. The risk factors for other cancers are daunting. I will have to be okay with being lab rat, to survive, however, I will beat this unlike my mother.

    If you would like to chat more, please let me know. I do not have a blog yet … though I will soon.

    All the best to you. Colleen

  2. thanks for leaving your comment.

    i’ve not starting the lab rat experience yet – not looking forward to it either…. (i know it means that anything will be caught early, so i know it’s a good thing, but i would really rather not…)

    i’m still trying to understand the impact this will have on my life.

    i’d love to chat more. it would be good to talk with someone else who understands.

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