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Gene sequecing

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  • rashaisa78
    Hi all .. I just came back from Atlanta last month. My son is 16months old with complex 1 an 4. He is severly affected by this horrible disease he has
    Message 1 of 2 , Sep 1, 2006
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      Hi all .. I just came back from Atlanta last month. My son is
      16months old with complex 1 an 4. He is severly affected by this
      horrible disease he has developmental delays, seizures, abnormal MRI
      and CT scan. They said just by looking at the MRI its the same as
      (Leighs disease) affect on the brain. After getting the biopsy results
      Dr.Shoffner mentioned that he has to to a Gene sequencing test to see
      where the defect is. He said its autosomal recessive in our case but
      wants to see where the defect is. Did anyone do this test for their
      child?? Does it give you answers for future pregnancy??? i mean i have
      a healthy 4 year old child but my second is affected. Will they get
      answers from this test for the future?? Can anyone explain???? Thanx :)
    • Kathleen
      Hi, I have a 3 year old son with Complex 1 and FOD,,, we just got our results from the gene sequencing, and we seem to have a maternally inherited form of
      Message 2 of 2 , Sep 1, 2006
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        Hi, I have a 3 year old son with Complex 1 and FOD,,, we just got our
        results from the gene sequencing, and we seem to have a maternally
        inherited form of Mito.. problem of one of the specific genes, that
        they have not seen before... ( does not mean much they said), I as well
        as mom, sister, our daughters, all need to be tested, and are in the
        process of it... Genetics counseling is also in place, and I was
        cautioned against haveing anymore children. It is so confusing, and
        exhausting trying to find out all the information you need to make an
        informed decision, as well as care for these children... Good Luck

        Warmly Kathleen mom to Conan and Katherine








        --- In Mito@yahoogroups.com, "rashaisa78" <rashaisa78@...> wrote:
        >
        >
        >
        > Hi all .. I just came back from Atlanta last month. My son is
        > 16months old with complex 1 an 4. He is severly affected by this
        > horrible disease he has developmental delays, seizures, abnormal MRI
        > and CT scan. They said just by looking at the MRI its the same as
        > (Leighs disease) affect on the brain. After getting the biopsy
        results
        > Dr.Shoffner mentioned that he has to to a Gene sequencing test to see
        > where the defect is. He said its autosomal recessive in our case but
        > wants to see where the defect is. Did anyone do this test for their
        > child?? Does it give you answers for future pregnancy??? i mean i
        have
        > a healthy 4 year old child but my second is affected. Will they get
        > answers from this test for the future?? Can anyone explain????
        Thanx :)
        >
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