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Genetic testing for FAP

WendyMarie
WendyMarie CSN Member Posts: 48
edited March 2014 in Colorectal Cancer #1
I haven't posted in a while. I was diagnosed FAP with stage 3 colon cancer in 2003. It has taken me this long to go through all the red tape and such to get an insurance company to agree to pay for the testing. I have 2 boys ages 7 and 8 who could be affected by my disease. Finally had the test in August of this year. The results came back this week.........NEGATIVE. They could not identify any mutations at all in my blood work. Which means they cannot test my boys or anyone else in my family to see if they carry the same mutation. They will have to start getting colonoscopies at age 11. I am grateful that we know this disease is in our family and we can screen the boys and find out if they have FAP and then do the colectomy to prevent cancer. Would have been much easier with a blood test though! Guess what I don't understand is how they cannot find any mutations, and they tested for many, when I obviously have the disease?! By the way no one else in my family has had FAP. I am the first and hopefully the last!!!!!

Thanks for any input,
Wendy
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Comments

  • shmurciakova
    shmurciakova CSN Member Posts: 904 Member
    #2
    So doesn't that mean that you do not actually have FAP? Did you have multiple polyps when you were diagnosed?
    Can a person have FAP when no one in the family has had it? I am surprised they even tested you for it because I suspect that I may have HNPCC, but they will not even test me for it because no one in my family has come down with it. My question is whether or not it can skip generations, because my grandparents were born at the turn of the century, back then they probably did not know the real cause of death.
    At any rate, sorry they did not find the answer that you expected.
    -Susan.

    P.S. Were you 21 when you were diagnosed?
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  • WendyMarie
    WendyMarie CSN Member Posts: 48
    #3
    shmurciakova said:

    So doesn't that mean that you do not actually have FAP? Did you have multiple polyps when you were diagnosed?
    Can a person have FAP when no one in the family has had it? I am surprised they even tested you for it because I suspect that I may have HNPCC, but they will not even test me for it because no one in my family has come down with it. My question is whether or not it can skip generations, because my grandparents were born at the turn of the century, back then they probably did not know the real cause of death.
    At any rate, sorry they did not find the answer that you expected.
    -Susan.

    P.S. Were you 21 when you were diagnosed?

    They say I do still have FAP, I had over 1,000 polyps when diagnosed as well as other skin lesions also associated with FAP. They just can't identify where the mutation is, evidently. A person can have FAP even if no one in the family has it. One in three cases are what they call 'sporadic mutations', meaning no family history. They are confident I don't have HNPCC. I was diagnosed at age 37, and the doctors pushed for testing as soon as I was diagnosed. It took a while, but we got insurance to agree to pay for it.
    Thanks,
    Wendy
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