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Li-Fraumeni Syndrome

Get the facts on Li-Fraumeni Syndrome treatment, diagnosis, staging, causes, types, symptoms. Information and current news about clinical trials and trial-related data, Li-Fraumeni Syndrome prevention, screening, research, statistics and other Li-Fraumeni Syndrome related topics. We answer all your qestions about Li-Fraumeni Syndrome.

Question: Is there anyone else out there that has been diagnosed w/ Li-Fraumeni syndrome n should I test my children? Last yr I was diagnosed with Li-Fraumeni that explains why I was getting cancer so much, I had liposarcomas in my back starting at the age of 23 and I was diagnosed with breast cancer at the age of 25, it was a painful experience, I am 28 now. I feel as though I am alone, I know of no one else I can talk to who has this syndrome, another question, I have three children and my genetic doctor wants to test them (I know the test are expensive but I am in the military so the cost is covered) I just don't know, I don't know what to do, is it cruel that I don't want to test them? I am scared of the results I had my father tested (through the military) and he was positive also (I can't really talk to him he's heavy on drugs) should I test my children as well? My husband is a cilivian RN and he wants the children tested but is also scared of the outcome there are pros and cons of having them tested I am more worried of the cons

Answer: Li-Fraumeni is a genetic disorder that is transmitted in families as an "autosomal dominant" characteristic. To call it "autosomal" is to contrast it with "sex-linked" disorders and means that it isn't any more likely to be transmitted to a boy or a girl child. To call it "dominant" is to say that you only need one copy of the affected gene in order to express the characteristic. The opposite of "dominant" is "recessive". Recessive traits need to be inherited from BOTH mother and father in order to be expressed. If you carry the Li-Fraumeni mutation, then your kids each have a 50/50 chance. If you're weighing the pro's and the con's of genetically testing the kids, then you really should think about what those pro's and con's realistically are, and actually compare them. These are no longer abstractions to be discussed in a medical ethics debate. These are your decision factors. The pro's: If you test a child and they're negative, you're done worrying. If you test a child and they're positive, you now know that this child needs vigilant surveillance for multiple types of cancer. The best weapon we have in the treatment of cancer is early detection. The con's: If you discover the presence of the mutation in your children, you will lose the illusion that you might have maintained that they are completely healthy. This will be a pre-existing condition to note on the paperwork for new insurance plans. ... That's about it. With regard to the pro's, I find these to be strong arguments. The early detection aspect is particularly important to me. With regard to the con's, I actually respect that the first one isn't trivial. Every time I deal with sick or injured kids, I think about my own. Sometimes I come home and just have to hug them because there's no way to explain to them how fragile and precious life is, and the kinds of things I see. I have two girls, ages 3 and 5. The second con issue is more worried about than it should be. In fact, insurance questionnaires ask about family history too, and you might be faced with a new carrier asking for a test before they insure your kids once they see the family history of Li-Fraumeni. I think you know that you need to know their status. It's scary, but ignorance is even worse. Mentally prepare, as you already have been doing, and get it done. Be ready to help be part of the early detection system for cancers, and be ready to help be the support system with your children as they go through some tough times with doctors. Now... go hug your kids. I'm going to go hug mine.

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