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A confussed mom

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  • javajunkie001
    My son was tested for Angelman s Syndrome recently, and the test came back negative. He has every single component of AS and I have been told by several
    Message 1 of 4 , Jan 3, 2008
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      My son was tested for Angelman's Syndrome recently, and the test came
      back negative. He has every single component of AS and I have been told
      by several physical therapists that he has the look of an AS child. My
      son is almost 2 1/2.Is it possible to get a false negative? Should I re-
      test? Any advice...
    • heather smith
      Table: Genetic Classes of Angelman Syndrome Large typical 15q11.2-13 deletion ~70 Hypopigmentation is common UBE3A mutation 5-7 Possibility of normal carrier
      Message 2 of 4 , Jan 3, 2008
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        Table: Genetic Classes of Angelman Syndrome
        Large typical 15q11.2-13 deletion
        ~70
        Hypopigmentation is common
        UBE3A mutation
        5-7
        Possibility of normal carrier mother
        Paternal uniparental disomy
        2-3
        Inheritance of both 15s from father
        Imprinting defect
        3-5
        Some have DNA deletion in IC, most do not
        Other chromosome
        1
        Unusual chromosome rearrangements leading to 15q11.2-13 deletion
        Unknown
        15
        All diagnostic tests negative (FISH, DNA methylation, UBE3A mutation analysis)

        I found this on angelman.org and I hope that it answers your question..I was told by a genetic Dr. that its about 11% of children that have angelman have a negative result I guess that your son and my son are in that 11% .. heather
        javajunkie001 <javajunkie001@...> wrote: My son was tested for Angelman's Syndrome recently, and the test came
        back negative. He has every single component of AS and I have been told
        by several physical therapists that he has the look of an AS child. My
        son is almost 2 1/2.Is it possible to get a false negative? Should I re-
        test? Any advice...






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      • pam danko
        I wanted to take a moment to respomg to your recent post.My name is Pam, I have 4 daughters with the youngest, Riley, having angelman syndrome. In the years I
        Message 3 of 4 , Jan 3, 2008
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          I wanted to take a moment to respomg to your recent post.My name is Pam, I have 4 daughters with the youngest, Riley, having angelman syndrome. In the years I have become aquainted with angelman I have found the spectrum to be very broad.Some children walk others don't some say a few words others don't I will say one thing that stood out to me as not being a trait of angelman would be the excessive sleep.I am licky to get riley to sleep through the night and in the research i have done have found that most children with this syndrome just don't seem to need sleep.

          The fact that your son can do some signing is amazing to me I wish we could get riley to pay attention long enough to learn something like that. At this time she tells us what she wants by going to the thing she wants or bringing it to us. Such as when she wants a drink she will continually give you her cup until you fill it there is no wait a minute if you want to wait she isnt having it.Same with being hungry she will give her plate if it is within reach or she will sit at the table and yell.

          Riley is a ball of fire she never stops never sits still she began to walk at 4 and a half and life hasnt been the same since then lol.My day consists of cleaning mess after mess she is so mischievious very much like a two year old except with 10 times the energy taller stronger and it has lasted two years now. I keep hoping that she wont be a perpetual 2 year old lol i think I would age quickly if this lasted too much longer lol.

          Seizures started at 18 months became severe at age 2 she doesnt talk but does now make some sounds such as mamamamamama over and over that started at 5 and a half.She was also very sick as a young baby the difference with her was they never knew what was wrong just always admitted her into the hospital alot of it was high fevers.She was very delayed she sat somewhat on her own at 18 months pulled to stand at 2and a half and began cruising. If there are any other things you would like to know I would be happy to talk to you I do have yahoo messenger and there is another group this one was filled with constant spam so every one pretty much abandoned it and we started a new one.Feel free to message me or email me I will help you however I can I know how it is to not know for sure exactly what is wrong with your child although riley was diagnosed at 18 months sometimes i still get confused as to what the right choices are. Luckily the other three broke me in before Riley came
          along she is 6 and a half now and the word terrorist has a new meaning now lol... Hope to hear from you soon Pam



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        • Sarah Nichols
          Hello, my son is now 7 he was diagnosed when he was 5 he went through every test possible for Angelman and every test came back negative but his doctor did
          Message 4 of 4 , Jan 3, 2008
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            Hello, my son is now 7 he was diagnosed when he was 5 he went through every test possible for Angelman and every test came back negative but his doctor did give him a clinical diagnosis of Angelman Syndrome because he fit all but i think two of the characteristics . i would talk to my doctor and see if he/she would give you a clinical diagnosis before i had anymore tests done. hope this helps? any other questions feel free to email me.
            -Sarah

            javajunkie001 <javajunkie001@...> wrote:
            My son was tested for Angelman's Syndrome recently, and the test came
            back negative. He has every single component of AS and I have been told
            by several physical therapists that he has the look of an AS child. My
            son is almost 2 1/2.Is it possible to get a false negative? Should I re-
            test? Any advice...






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            [Non-text portions of this message have been removed]
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