• Are there any people on here who have been diagnosed with Li-Fraumeni Syndrome?

    Asked by braintumorz on Wednesday, January 23, 2013

    Are there any people on here who have been diagnosed with Li-Fraumeni Syndrome?

    I know this is a rare genetic mutation, but I have it and am hoping to find people like me on here, who have experience with genetic groups or possibly even ideas about experimental trials, thoughts, anything.

    5 Answers from the Community

    5 answers
    • TinaJacques' Avatar
      TinaJacques

      did you undergo genetic testing or were you diagnosed with this based on criteria such as first digree relative diagnosed before age 45 with cancer etc? I'm just curious because I'm actually interested in getting tested for this. My sister was diagnosed with leukemia at age 7 and I'm 25 and I have lymphoma. I always had a hard time believing it was coincidence.

      about 4 years ago
    • braintumorz's Avatar
      braintumorz

      I did undergo genetic counseling and testing, and when we reviewed my family history (my mother, her mother, and her grandfather all died of 3 cancers) it was obvious that there was something genetic to explain my early-onset cancer. If you have the factor you mentioned than most of the genetic testing should be covered by your insurance. I doubt it is a coincidence, and you should have your sister tested as well. I hope this helps!!! It is tough news to hear, that I have this mutation, but it makes us more vigilant in screening for the future and I have guidelines to follow. I am also joining a Li-Fraumeni genetics group at UPenn, which should give me more answers. If you do get tested, let me know and I can give you more info. Best of luck!

      about 4 years ago
    • TinaJacques' Avatar
      TinaJacques

      Thank you so much! Yeah, like I mentioned my sister had leukemia, and two of my mom's sister's had breast cancer (they were both 45 when they got it). I guess it's a long shot and *knock on wood* my parents are both healthy but I'm curious. I was only 25 when I was diagnosed with my cancer.. what are the chances that my sister and I would both be diagnosed so young with cancers and it be a fluke? I've just had a hard time accepting that.

      about 4 years ago
    • TinaJacques' Avatar
      TinaJacques

      not to mention my mom's dad also had breast cancer, but he was 60 I believe when he was diagnosed with it. Then he went on to get lung cancer (he was a smoker) and also another type I think.

      about 4 years ago
    • skyebluelake's Avatar
      skyebluelake

      You may be interested in Linda Zercoe's memoir, "A Kick-XXX Fairy," which is coming out in October 2013. It tells of her struggle to come to terms with with everything that life throws her way. To illuminate what adversity can teach us about life, the author draws upon her own encounters with serious misfortunes – a widow at age 26, breast cancer in her mid-thirties, followed by a primary diagnoses of pancreatic cancer, lung cancer and ultimately the discovery of a rare genetic defect -- Li-Fraumeni Syndrome. Told with rare candor, it offers hope, understanding and inspiration to cancer patients, families, friends and the medical community. For now, check out her blog at: http://www.thecancerian.org.

      over 3 years ago

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