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Re: My geneticist is running a FISH test.....

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  • justannae kirby
    Some angels need blood test to determine if they in fact have AS. Junior, for one didn t. (---we re really relieved to that. You wouldn t believe the h*ll we
    Message 1 of 13 , Oct 27, 2005
      Some angels need blood test to determine if they in fact have AS.
      Junior, for one didn't. (---we're really relieved to that. You
      wouldn't believe the h*ll we went through getting his baby shots
      accomplished!)
      Junior has every characteristic of these kids....then one time we went
      to the public clinic over at the University of Akron, just a general
      health check-up. I told the two interns that we suspected Junior had
      AS. They asked a bunch of questions, spun him around on the stool,
      checking him out, then asked me if I minded if their head of the
      department came in to take a look at him.....i said- ok. They then
      each wrote something on index cards and left. A few minutes later,
      this fellow came in, we had a little chit-chat, and then he felt
      behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
      BEHIND HIS EARS? Then this guy asked why these two interns called him
      downstairs...this was a clear case of AS if there ever was one...the
      interns showed this guy what they had written on their
      cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
      there a bulge in the skulll? Why our angels have this bulge is
      anybody's guess...but apparently it means- something.
    • Monica Yalan Chang
      Hi, May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it. justannae kirby wrote: Some
      Message 2 of 13 , Oct 27, 2005
        Hi,
        May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it.

        justannae kirby <justannae@...> wrote:
        Some angels need blood test to determine if they in fact have AS.
        Junior, for one didn't. (---we're really relieved to that. You
        wouldn't believe the h*ll we went through getting his baby shots
        accomplished!)
        Junior has every characteristic of these kids....then one time we went
        to the public clinic over at the University of Akron, just a general
        health check-up. I told the two interns that we suspected Junior had
        AS. They asked a bunch of questions, spun him around on the stool,
        checking him out, then asked me if I minded if their head of the
        department came in to take a look at him.....i said- ok. They then
        each wrote something on index cards and left. A few minutes later,
        this fellow came in, we had a little chit-chat, and then he felt
        behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
        BEHIND HIS EARS? Then this guy asked why these two interns called him
        downstairs...this was a clear case of AS if there ever was one...the
        interns showed this guy what they had written on their
        cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
        there a bulge in the skulll? Why our angels have this bulge is
        anybody's guess...but apparently it means- something.







        Yahoo! Groups Links








        Monica Yalan Chang


        [Non-text portions of this message have been removed]
      • Sarah Nichols
        hello,our son has AS but he doesnt have a bulge behind his ear either but who knows we re not experts hes just been recently clinically diagnosed with AS
        Message 3 of 13 , Oct 27, 2005
          hello,our son has AS but he doesnt have a bulge behind his ear either but who knows we're not experts hes just been recently clinically diagnosed with AS theres so still so much out there to learn though, hopefully this answers your question -Sarah nichols mother of Christian age 5

          Monica Yalan Chang <piopio9@...> wrote:Hi,
          May I ask you, are all the AS kids have this bulge behind their ears? Because my daughter hasnt it.

          justannae kirby <justannae@...> wrote:
          Some angels need blood test to determine if they in fact have AS.
          Junior, for one didn't. (---we're really relieved to that. You
          wouldn't believe the h*ll we went through getting his baby shots
          accomplished!)
          Junior has every characteristic of these kids....then one time we went
          to the public clinic over at the University of Akron, just a general
          health check-up. I told the two interns that we suspected Junior had
          AS. They asked a bunch of questions, spun him around on the stool,
          checking him out, then asked me if I minded if their head of the
          department came in to take a look at him.....i said- ok. They then
          each wrote something on index cards and left. A few minutes later,
          this fellow came in, we had a little chit-chat, and then he felt
          behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
          BEHIND HIS EARS? Then this guy asked why these two interns called him
          downstairs...this was a clear case of AS if there ever was one...the
          interns showed this guy what they had written on their
          cards...ANGELMAN SYNDROME......so check behind your angel's ears....is
          there a bulge in the skulll? Why our angels have this bulge is
          anybody's guess...but apparently it means- something.







          Yahoo! Groups Links








          Monica Yalan Chang


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



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        • Justannae Kirby
          I m a little curious as to how many kids have it and how many don t, too. I wonder if there s a way we could run a consensus here in the group.
          Message 4 of 13 , Oct 28, 2005
            I'm a little curious as to how many kids have it and
            how many don't, too.
            I wonder if there's a way we could run a consensus
            here in the group.





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          • Justannae Kirby
            Another thing, too...Junior was about 12 or so when this happened...so I wonder if these bulges don t show up until the kids are older. A little kids bones are
            Message 5 of 13 , Oct 28, 2005
              Another thing, too...Junior was about 12 or so when
              this happened...so I wonder if these bulges don't show
              up until the kids are older. A little kids bones are
              much softer and the plates in their skull aren't as
              hard either....maybe it all comes with age.?.?.?





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            • JoAnn Sotelo
              hi, i have a little angel that is 5years old and she went through a genitic testing and her results came out negative, so how do they diagnose a child with
              Message 6 of 13 , Oct 30, 2005
                hi, i have a little angel that is 5years old and she went through a genitic testing and her results came out negative, so how do they diagnose a child with AS if the tests are negative?
                jo

                Sarah Nichols <angelsmomma3@...> wrote:
                ,Hello
                u are not wrong at all, our son Christian is now 5 and the genecitists ran all the tests and they all came back negative, so then he has clinically diagnosed him with Angelman Syndrome , which we've waited for five years to find some sort of answer . Not that it changes anything with all the reasearch on Angelman Syndrome that we have done atleast we know in what direction we are going now with therapy and all. well if you have anymore questions we'd be happy to anwer the best we can Sarah & Brandon Nichols ,Christian our Angel age 5

                miss_priss_602 <priscillathorson@...> wrote:
                I know there are a few tests to run to check for Angelmans.. which one
                is usually done first? SHe said if this is negative no sense in running
                any other ones, is prolly not Angelmans then, but I beg to differ? Am I
                wrong?





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              • Jennifer Posey
                Hello everyone My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn t been sleeping well at all. He has never
                Message 7 of 13 , Oct 31, 2005
                  Hello everyone

                  My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                  help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                  Jennifer

                  Justannae Kirby <justannae@...> wrote:
                  I'm a little curious as to how many kids have it and
                  how many don't, too.
                  I wonder if there's a way we could run a consensus
                  here in the group.





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                  http://mail.yahoo.com


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                • Jennifer Posey
                  Hello I also forgot to add that he has really been aggressive since all this and I was wondering if any of you guys have had this and if you have what can I
                  Message 8 of 13 , Oct 31, 2005
                    Hello I also forgot to add that he has really been aggressive since all this and I was wondering if any of you guys have had this and if you have what can I do about it, because my daughter is 19 months old and is picking up on his bad behavior and thinks its okay to slap and pull hair when she doesn't get her way Please help me!

                    Jennifer

                    Jennifer Posey <jposey83@...> wrote:
                    Hello everyone

                    My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                    help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                    Jennifer

                    Justannae Kirby <justannae@...> wrote:
                    I'm a little curious as to how many kids have it and
                    how many don't, too.
                    I wonder if there's a way we could run a consensus
                    here in the group.





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                    http://mail.yahoo.com


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                  • Sarah Nichols
                    hello, my angel is Christian now five and recently diagnosed with AS we had the same trouble with gettin him to sleep, our developmental doctor put him on
                    Message 9 of 13 , Oct 31, 2005
                      hello, my angel is Christian now five and recently diagnosed with AS we had the same trouble with gettin him to sleep, our developmental doctor put him on melatonin its actually over the counter in the vitamin section its all natural.we couldnt believe how well it actually worked its wonderful after we give it to him we turn the lights off and hes asleep within 20 mins yeah really!! Well for the eating thing he is the same way most of the time we'll get him to eat a big breakfast and thats usually all we can get him to eat his meds have alot to do with his appetite sorry i couldnt be of any help with that. Hope your day is good! Sarah Nichols

                      Jennifer Posey <jposey83@...> wrote:Hello everyone

                      My angel Christopher is three. He has recently started school he goes from 11 - 2. But he hasn't been sleeping well at all. He has never really napped even when he was a baby. I thought it was the coolest thing most newborns only sleep eat and poop. Not my Christopher he would stay awake most of the day, and occasionally would take short 30 minute naps. But he would go to bed at night around 8 o'clock and would sleep until 6 or 7 in the morning, but he would wake every 3 hours to eat. For the past few weeks he fights going to sleep at night so he goes to bed around 10 and hes been waking up anywhere from 2 in the morning to 6 o'clock in the morning. Hes been getting very cranky in the day and he won't take naps so when he sleeps like that its just sleep lost for him. He hasn't been eating well at all, he always fights me to eat but if I push he would usually give in and eat okay. Does anyone know if there is a medicine to increase his appetite? And is there anything to
                      help him sleep? Justannae I love all of your posts if every special needs child had a parent like you there wouldn't be all these children slipping through the cracks. I just think your great.

                      Jennifer

                      Justannae Kirby <justannae@...> wrote:
                      I'm a little curious as to how many kids have it and
                      how many don't, too.
                      I wonder if there's a way we could run a consensus
                      here in the group.





                      __________________________________
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                      http://mail.yahoo.com


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                    • ettinashee
                      It s called clinical diagnosis. It s kind of like how they diagnose autism, ADHD, etc - if the kid has enough traits typical of Angelman Syndrome they get
                      Message 10 of 13 , Nov 3, 2005
                        It's called clinical diagnosis. It's kind of like how they diagnose
                        autism, ADHD, etc - if the kid has enough traits typical of Angelman
                        Syndrome they get diagnosed. At
                        http://www.angelman.org/angel/index.php?id=75 they have the
                        criteria, which are:

                        A summary of the developmental and physical findings has been
                        published for the purpose of establishing clinical criteria for the
                        diagnosis and these are listed below. 10 All of the features do not
                        need to be present for the diagnosis to be made and the diagnosis is
                        often first suspected when the typical behaviors are recognized.

                        Developmental History and Laboratory Findings
                        Normal prenatal and birth history with normal head circumference;
                        absence of major birth defects
                        Developmental delay evident by 6 - 12 months of age
                        Delayed but forward progression of development (no loss of skills)
                        Normal metabolic, hematologic and chemical laboratory profiles
                        Structurally normal brain using MRI or CT (may have mild cortical
                        atrophy or dysmyelination)

                        Clinical Features in Angelman Syndrome
                        Consistent (100%)
                        Developmental delay, functionally severe
                        Speech impairment, none or minimal use of words; receptive and non-
                        verbal communication skills higher than verbal ones
                        Movement or balance disorder, usually ataxia of gait and/or
                        tremulous movement of limbs
                        Behavioral uniqueness: any combination of frequent laughter/smiling;
                        apparent happy demeanor; easily excitable personality, often with
                        hand flapping movements; hypermotoric behavior; short attention span

                        Frequent (more than 80%)
                        Delayed, disproportionate growth in head circumference, usually
                        resulting in microcephaly (absolute or relative) by age 2
                        Seizures, onset usually < 3 years of age
                        Abnormal EEG, characteristic pattern with large amplitude slow-spike
                        waves

                        Associated (20 - 80%)
                        Strabismus
                        Hypopigmented skin and eyes
                        Tongue thrusting; suck/swallowing disorders
                        Hyperactive tendon reflexes
                        Feeding problems during infancy
                        Uplifted, flexed arms during walking
                        Prominent mandible
                        Increased sensitivity to heat
                        Wide mouth, wide-spaced teeth
                        Sleep disturbance
                        Frequent drooling, protruding tongue
                        Attraction to/fascination with water
                        Excessive chewing/mouthing behaviors
                        Flat back of head

                        Hope that clarifies it.
                        Ettina
                        --- In familiesofangelmansyndrome@yahoogroups.com, JoAnn Sotelo
                        <jonnlo2004@y...> wrote:
                        >
                        > hi, i have a little angel that is 5years old and she went through
                        a genitic testing and her results came out negative, so how do
                        they diagnose a child with AS if the tests are negative?
                        > jo
                        >
                        > Sarah Nichols <angelsmomma3@y...> wrote:
                        > ,Hello
                        > u are not wrong at all, our son Christian is now 5 and the
                        genecitists ran all the tests and they all came back negative, so
                        then he has clinically diagnosed him with Angelman Syndrome , which
                        we've waited for five years to find some sort of answer . Not that
                        it changes anything with all the reasearch on Angelman Syndrome that
                        we have done atleast we know in what direction we are going now with
                        therapy and all. well if you have anymore questions we'd be happy to
                        anwer the best we can Sarah & Brandon Nichols ,Christian our Angel
                        age 5
                        >
                        > miss_priss_602 <priscillathorson@h...> wrote:
                        > I know there are a few tests to run to check for Angelmans.. which
                        one
                        > is usually done first? SHe said if this is negative no sense in
                        running
                        > any other ones, is prolly not Angelmans then, but I beg to differ?
                        Am I
                        > wrong?
                        >
                        >
                        >
                        >
                        >
                        > SPONSORED LINKS
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                        >
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                        > familiesofangelmansyndrome-unsubscribe@yahoogroups.com
                        >
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                        Service.
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                        > [Non-text portions of this message have been removed]
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                        >
                        > Visit your group "familiesofangelmansyndrome" on the web.
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                      • ettinashee
                        Maybe he was just trying to gauge how big Junior s head is? I know a small head is common in Angelman Syndrome. Ettina ... went ... general ... had ... him ...
                        Message 11 of 13 , Nov 3, 2005
                          Maybe he was just trying to gauge how big Junior's head is? I know a
                          small head is common in Angelman Syndrome.
                          Ettina
                          --- In familiesofangelmansyndrome@yahoogroups.com, "justannae kirby"
                          <justannae@y...> wrote:
                          >
                          > Some angels need blood test to determine if they in fact have AS.
                          > Junior, for one didn't. (---we're really relieved to that. You
                          > wouldn't believe the h*ll we went through getting his baby shots
                          > accomplished!)
                          > Junior has every characteristic of these kids....then one time we
                          went
                          > to the public clinic over at the University of Akron, just a
                          general
                          > health check-up. I told the two interns that we suspected Junior
                          had
                          > AS. They asked a bunch of questions, spun him around on the stool,
                          > checking him out, then asked me if I minded if their head of the
                          > department came in to take a look at him.....i said- ok. They then
                          > each wrote something on index cards and left. A few minutes later,
                          > this fellow came in, we had a little chit-chat, and then he felt
                          > behind Junior's EARS. Ok, Junior's deaf, but why was he feeling
                          > BEHIND HIS EARS? Then this guy asked why these two interns called
                          him
                          > downstairs...this was a clear case of AS if there ever was
                          one...the
                          > interns showed this guy what they had written on their
                          > cards...ANGELMAN SYNDROME......so check behind your angel's
                          ears....is
                          > there a bulge in the skulll? Why our angels have this bulge is
                          > anybody's guess...but apparently it means- something.
                          >
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