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New suspect AS, how to get diagnosis

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  • Sonya O'Brien
    Hello, I will try to make this short. My ds is 3, we have an array of diagnosis but none seem to fit. My most recent concern is his overheating problem. The
    Message 1 of 10 , Oct 17, 2007
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      Hello, I will try to make this short. My ds is 3, we have an array
      of diagnosis but none seem to fit. My most recent concern is his
      overheating problem. The Neuro and Geneticist act like they have
      never seen anything like it before, as well as the his MRI results.
      I came across the Angelman Syndrome foundation and my ds fits every
      feature except four. I know that having a diagnosis will not change
      anything but it will put my mind at ease that I will finally have an
      answer and can stop worry that it is a progressive disorder. My ds
      has had numerous genetic testing done but angelmans in not one of
      them. I hate to put him through more blood tests if nothing is going
      to change. Can anyone let me know if getting the diagnosis helped in
      anyway, and if you were able to get diagnosis without definative
      genetics tests? Right now my ds is diagnoses as follows:
      1. Global developmental delay 56%
      2. Macrocephaly
      3. Cerebral demyelination of uncertain etiology
      4. Moderate spastic diplegia cerebral palsy
      6. Sensory integration disorder
      7. Dysarthria/Apraxia
      8. Autistic Spectrum Disorder with hyperlexia
      I read on the Angelman web site that AS children are often diagnosed
      with CP, which my son clearly does not fit, His Autism is very high
      functioning but it is severe enough to agree with the Autism
      diagnosis. He is extremely cheerful, happy and outgoing. His laugh
      is the best thing in the universe!!!!!

      Thanks for any advice.

      Sonya
    • momanddad Warnock
      Hi Sonya, I know for our family that getting a diagnosis of Angelman Syndrome was more of a relief than anything. Our son was 5 when he was finally diagnosed
      Message 2 of 10 , Oct 17, 2007
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        Hi Sonya,

        I know for our family that getting a diagnosis of Angelman Syndrome was more of a relief than anything. Our son was 5 when he was finally diagnosed and up until that point was diagnosed with CP. I think you should go ahead with the genetic testing for your child. It doesn't change her, but it will give you peace of mind. You will be able to move forward with your lives and get her the appropriate help she deserves!! It sounds like she is a wonderful human being and having an Angel as part of your family will be all things, wonderful, scary and everything inbetween, but that is the way it is with all of our children, just alittle more intense! Best of luck to you and your family.
        Jean (Robert 18 del+)


        ----- Original Message ----
        From: Sonya O'Brien <frogfoot1969@...>
        To: familiesofangelmansyndrome@yahoogroups.com
        Sent: Wednesday, October 17, 2007 4:19:13 PM
        Subject: [Families of Angelman Syndrome] New suspect AS, how to get diagnosis

        Hello, I will try to make this short. My ds is 3, we have an array
        of diagnosis but none seem to fit. My most recent concern is his
        overheating problem. The Neuro and Geneticist act like they have
        never seen anything like it before, as well as the his MRI results.
        I came across the Angelman Syndrome foundation and my ds fits every
        feature except four. I know that having a diagnosis will not change
        anything but it will put my mind at ease that I will finally have an
        answer and can stop worry that it is a progressive disorder. My ds
        has had numerous genetic testing done but angelmans in not one of
        them. I hate to put him through more blood tests if nothing is going
        to change. Can anyone let me know if getting the diagnosis helped in
        anyway, and if you were able to get diagnosis without definative
        genetics tests? Right now my ds is diagnoses as follows:
        1. Global developmental delay 56%
        2. Macrocephaly
        3. Cerebral demyelination of uncertain etiology
        4. Moderate spastic diplegia cerebral palsy
        6. Sensory integration disorder
        7. Dysarthria/Apraxia
        8. Autistic Spectrum Disorder with hyperlexia
        I read on the Angelman web site that AS children are often diagnosed
        with CP, which my son clearly does not fit, His Autism is very high
        functioning but it is severe enough to agree with the Autism
        diagnosis. He is extremely cheerful, happy and outgoing. His laugh
        is the best thing in the universe!!!! !

        Thanks for any advice.

        Sonya




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        [Non-text portions of this message have been removed]
      • Sonya OBrien
        Thanks so much, it helps to hear from other people who have been thru it. Hopefully the Geneticist will call me back tom. I also wanted to ask if anyone elses
        Message 3 of 10 , Oct 17, 2007
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          Thanks so much, it helps to hear from other people who have been thru it. Hopefully the Geneticist will call me back tom. I also wanted to ask if anyone elses child has the overheating problem and what you do about it, it is very concerning.
          Thanks, Sonya

          momanddad Warnock <momanddad28@...> wrote:
          Hi Sonya,

          I know for our family that getting a diagnosis of Angelman Syndrome was more of a relief than anything. Our son was 5 when he was finally diagnosed and up until that point was diagnosed with CP. I think you should go ahead with the genetic testing for your child. It doesn't change her, but it will give you peace of mind. You will be able to move forward with your lives and get her the appropriate help she deserves!! It sounds like she is a wonderful human being and having an Angel as part of your family will be all things, wonderful, scary and everything inbetween, but that is the way it is with all of our children, just alittle more intense! Best of luck to you and your family.
          Jean (Robert 18 del+)

          ----- Original Message ----
          From: Sonya O'Brien <frogfoot1969@...>
          To: familiesofangelmansyndrome@yahoogroups.com
          Sent: Wednesday, October 17, 2007 4:19:13 PM
          Subject: [Families of Angelman Syndrome] New suspect AS, how to get diagnosis

          Hello, I will try to make this short. My ds is 3, we have an array
          of diagnosis but none seem to fit. My most recent concern is his
          overheating problem. The Neuro and Geneticist act like they have
          never seen anything like it before, as well as the his MRI results.
          I came across the Angelman Syndrome foundation and my ds fits every
          feature except four. I know that having a diagnosis will not change
          anything but it will put my mind at ease that I will finally have an
          answer and can stop worry that it is a progressive disorder. My ds
          has had numerous genetic testing done but angelmans in not one of
          them. I hate to put him through more blood tests if nothing is going
          to change. Can anyone let me know if getting the diagnosis helped in
          anyway, and if you were able to get diagnosis without definative
          genetics tests? Right now my ds is diagnoses as follows:
          1. Global developmental delay 56%
          2. Macrocephaly
          3. Cerebral demyelination of uncertain etiology
          4. Moderate spastic diplegia cerebral palsy
          6. Sensory integration disorder
          7. Dysarthria/Apraxia
          8. Autistic Spectrum Disorder with hyperlexia
          I read on the Angelman web site that AS children are often diagnosed
          with CP, which my son clearly does not fit, His Autism is very high
          functioning but it is severe enough to agree with the Autism
          diagnosis. He is extremely cheerful, happy and outgoing. His laugh
          is the best thing in the universe!!!! !

          Thanks for any advice.

          Sonya

          __________________________________________________
          Do You Yahoo!?
          Tired of spam? Yahoo! Mail has the best spam protection around
          http://mail.yahoo.com

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





          __________________________________________________
          Do You Yahoo!?
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          [Non-text portions of this message have been removed]
        • Donna
          Sonya, Hello. My name is Donna and my son is Joshua. He is now 4 years old. I had never heard of AS. We went through all the testing as well. They tested for
          Message 4 of 10 , Oct 17, 2007
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            Sonya,
            Hello. My name is Donna and my son is Joshua. He is now 4 years old. I
            had never heard of AS. We went through all the testing as well. They
            tested for everything...well, almost everything. I guess the more
            common one's such as CP, MS, MD, CF. They even tested for Prader-Willi
            Syndrome locally. Finally, right before Josh's 2nd birthday we had a
            visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
            Syndrome. The neurologist, to this day, says she was surprised by the
            outcome of Angelman Syndrome. We still have more testing. So, far the
            Methalyation (sp?) testing was done. From what I understand they were
            able to test for the deletion of Chromosome 15 and see this. It was
            positive. PW runs on the paternal side where as AS runs maternally. I
            apologize if I may be confusing you. The genetics of AS really confuse me.

            I want to add that had we not been to St. Louis I don't think I would
            have a diagnosis to this day. We went through two years of hell.
            Testing, blood work and insulting doctor's. Thank the Lord we finally
            found doctor's who would weigh every option and not look at me like I
            was a careless idiot when they found out he was on Medicaid and that I
            was a single mom. Seriously. Ok, rant over.

            The diagnosis has great impact. If you have a diagnosis then you have
            a prognosis. And with a prognosis you will know how to take care of
            your child and what to expect. The diagnosis filled me full of relief
            at first. This was because Josh had been so ill and I was worried that
            he would be diagnosed with some rare condition that altered his life
            span. I was that worried. With the diagnosis I found information.
            Knowledge is power. The diagnosis also made me sad. Almost like a
            dream had died. I cried at the fact he would never speak really. It
            was hard but, I am happy I have a diagnosis. I would be lying if I
            said it didn't change anything. But, it does. And for the better. The
            relief feels good. Just finally knowing.

            Anyway I hope this helps you out.

            Much love,
            Donna

            Did you say "over-eating" or "over-heating?' I read somewhere that
            Angels are heat sensitive and get warm easily. If you meant
            over-eating Prader-Willi syndrome would be another thing to look into.

            If you could elaborate on some more of his symptoms. And I would
            encourage you to post pics here. We would love to see him! I now can
            spot an angel if I see one! I guess it's those beautiful eye's and
            that big bright smile. Angels are so precious!









            --- In familiesofangelmansyndrome@yahoogroups.com, "Sonya O'Brien"
            <frogfoot1969@...> wrote:
            >
            > Hello, I will try to make this short. My ds is 3, we have an array
            > of diagnosis but none seem to fit. My most recent concern is his
            > overheating problem. The Neuro and Geneticist act like they have
            > never seen anything like it before, as well as the his MRI results.
            > I came across the Angelman Syndrome foundation and my ds fits every
            > feature except four. I know that having a diagnosis will not change
            > anything but it will put my mind at ease that I will finally have an
            > answer and can stop worry that it is a progressive disorder. My ds
            > has had numerous genetic testing done but angelmans in not one of
            > them. I hate to put him through more blood tests if nothing is going
            > to change. Can anyone let me know if getting the diagnosis helped in
            > anyway, and if you were able to get diagnosis without definative
            > genetics tests? Right now my ds is diagnoses as follows:
            > 1. Global developmental delay 56%
            > 2. Macrocephaly
            > 3. Cerebral demyelination of uncertain etiology
            > 4. Moderate spastic diplegia cerebral palsy
            > 6. Sensory integration disorder
            > 7. Dysarthria/Apraxia
            > 8. Autistic Spectrum Disorder with hyperlexia
            > I read on the Angelman web site that AS children are often diagnosed
            > with CP, which my son clearly does not fit, His Autism is very high
            > functioning but it is severe enough to agree with the Autism
            > diagnosis. He is extremely cheerful, happy and outgoing. His laugh
            > is the best thing in the universe!!!!!
            >
            > Thanks for any advice.
            >
            > Sonya
            >
          • Donna
            I don t know if you are a part of the other group. This group seems to be active here and there but, I have opened a new group. Angelsonearth2007. This group
            Message 5 of 10 , Oct 17, 2007
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              I don't know if you are a part of the other group. This group seems to
              be active here and there but, I have opened a new group.
              Angelsonearth2007. This group (familiesofangelman) is open to anyone.
              This includes spammers and trolls. So, in the past we were subjected
              to a high volume of junk posts Offensive at times. Many left the
              group. I would encourage you to join the new group. It is more active
              and your privacy is not compromised.

              Here is the link. Follow it, introduce yourself and I will approve you
              for membership. Thanks.

              http://groups.yahoo.com/group/angels_on_earth_2007

              http://groups.yahoo.com/group/angels_on_earth_2007/

              Much love,
              Donna


              --- In familiesofangelmansyndrome@yahoogroups.com, Sonya OBrien
              <frogfoot1969@...> wrote:
              >
              > Thanks so much, it helps to hear from other people who have been
              thru it. Hopefully the Geneticist will call me back tom. I also wanted
              to ask if anyone elses child has the overheating problem and what you
              do about it, it is very concerning.
              > Thanks, Sonya
              >
              > momanddad Warnock <momanddad28@...> wrote:
              > Hi Sonya,
              >
              > I know for our family that getting a diagnosis of Angelman Syndrome
              was more of a relief than anything. Our son was 5 when he was finally
              diagnosed and up until that point was diagnosed with CP. I think you
              should go ahead with the genetic testing for your child. It doesn't
              change her, but it will give you peace of mind. You will be able to
              move forward with your lives and get her the appropriate help she
              deserves!! It sounds like she is a wonderful human being and having an
              Angel as part of your family will be all things, wonderful, scary and
              everything inbetween, but that is the way it is with all of our
              children, just alittle more intense! Best of luck to you and your family.
              > Jean (Robert 18 del+)
              >
              > ----- Original Message ----
              > From: Sonya O'Brien <frogfoot1969@...>
              > To: familiesofangelmansyndrome@yahoogroups.com
              > Sent: Wednesday, October 17, 2007 4:19:13 PM
              > Subject: [Families of Angelman Syndrome] New suspect AS, how to get
              diagnosis
              >
              > Hello, I will try to make this short. My ds is 3, we have an array
              > of diagnosis but none seem to fit. My most recent concern is his
              > overheating problem. The Neuro and Geneticist act like they have
              > never seen anything like it before, as well as the his MRI results.
              > I came across the Angelman Syndrome foundation and my ds fits every
              > feature except four. I know that having a diagnosis will not change
              > anything but it will put my mind at ease that I will finally have an
              > answer and can stop worry that it is a progressive disorder. My ds
              > has had numerous genetic testing done but angelmans in not one of
              > them. I hate to put him through more blood tests if nothing is going
              > to change. Can anyone let me know if getting the diagnosis helped in
              > anyway, and if you were able to get diagnosis without definative
              > genetics tests? Right now my ds is diagnoses as follows:
              > 1. Global developmental delay 56%
              > 2. Macrocephaly
              > 3. Cerebral demyelination of uncertain etiology
              > 4. Moderate spastic diplegia cerebral palsy
              > 6. Sensory integration disorder
              > 7. Dysarthria/Apraxia
              > 8. Autistic Spectrum Disorder with hyperlexia
              > I read on the Angelman web site that AS children are often diagnosed
              > with CP, which my son clearly does not fit, His Autism is very high
              > functioning but it is severe enough to agree with the Autism
              > diagnosis. He is extremely cheerful, happy and outgoing. His laugh
              > is the best thing in the universe!!!! !
              >
              > Thanks for any advice.
              >
              > Sonya
              >
              > __________________________________________________
              > Do You Yahoo!?
              > Tired of spam? Yahoo! Mail has the best spam protection around
              > http://mail.yahoo.com
              >
              > [Non-text portions of this message have been removed]
              >
              >
              >
              >
              >
              > __________________________________________________
              > Do You Yahoo!?
              > Tired of spam? Yahoo! Mail has the best spam protection around
              > http://mail.yahoo.com
              >
              > [Non-text portions of this message have been removed]
              >
            • Sonya OBrien
              Hi Donna, I posted some pics of my angel on the group under Sonya s angel Seoc. His name is pronounced Shock it is Gaelic for Jack, we are a little Irish, LOL.
              Message 6 of 10 , Oct 17, 2007
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                Hi Donna,
                I posted some pics of my angel on the group under Sonya's angel Seoc. His name is pronounced Shock it is Gaelic for Jack, we are a little Irish, LOL. I mentioned that he is overheating, the first pic is of him while overheating. It appears that he does not sweat anywhere except his feet. I took his temp and it was up to 102 once I get him the the air conditioning it improves quickly. He loves to be outside and it does not slow him down but he looks like he is going to have a heat stroke, his face gets extremely red but very pale around the nose and mouth, it is not a rash it is flushing.

                Well it is a long story but will try to keep it brief. Seoc was premature so the first year the ped. kept brushing off my concerns at six months he was not attempting to crawl, then at nine and then at one year we were sent for outpatient therapies but no testing was done and no referral. I kept being told he was just premature and would catch up, they didn't even tell me about early intervention needless to say it was a struggle. Thank God we moved and got a new ped. who immediately did a CT scan then MRI and referrals to specialist and early intervention. We were lucky enough to get approved for disability without any diagnosis other than a 56% global developmental delay. We have private ins. and medicaid (we could not make it without the medicaid)

                The first neuro we saw suspected a genetic disorder, the geneticist tested for alot of different things but found nothing, the second neuro we saw said she believes he has a neuro-genetic disorder. We just recently got a second opinion geneticist who had no insight. All of them said he did not have Autism because he was too outgoing and had good eye contact, but he was eventually diagnosed by the developmental ped and child psych with Autistic spectrum disorder because he has so many autistic characteristic.
                The feature from Angelman syndrome that hit me most was the Behavioral uniqueness, combination of frequent laughter/smiling and happy demeanor, Very easily excitable personality, the hand flapping, hypermotoric behavior, and short attention span. The severe developmental delay, speech impairment, movement/balance disorder/ trembling limbs, possible absent seizures, flat back of the head, suck/swallowing disorder, when he was smaller protruded/thrusted his tongue, feeding problems (still), excessive chewing, strabismus, increased sensitivity to heat, sleep disturbance (with him it is excessive sleeping) attraction to/fascination with water, delayed but forward progression of developmental with no loss of skills, may have mild cortical dysmyelination (Seoc is not mild). Seoc also has a tooth abnormality where one front tooth is fused to the one next to it, the dentist also stated he thinks it is also an extra tooth. So you can see why I am 99% sure this is what he has. He
                has no social skills with children and no interest in them, but loves adults.

                The article also states that other clinical disorders can mimic AS, and he has been diagnosed with two the CP and static encephalopathy with mild infantile autism. It seems pretty clear cut to me. What do you think.

                I phoned my mom and read of the list and she said that explains him to a tee. I have no doubt just not sure how to present it to his Doctor. It is actually ironic because I have always called him my Angel, he is the sweetest, happiest boy who loves big bear hugs. He lights up the world with his smile, when I pick him up from school I can hear him giggling before he burst out the door MY RAY OF SUNSHINE!!

                Thank you so much for sharing Jasons story with me and for taking the time to listen to me and give much needed advice.

                Sonya


                Donna <iamdonna42701@...> wrote:
                Sonya,
                Hello. My name is Donna and my son is Joshua. He is now 4 years old. I
                had never heard of AS. We went through all the testing as well. They
                tested for everything...well, almost everything. I guess the more
                common one's such as CP, MS, MD, CF. They even tested for Prader-Willi
                Syndrome locally. Finally, right before Josh's 2nd birthday we had a
                visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
                Syndrome. The neurologist, to this day, says she was surprised by the
                outcome of Angelman Syndrome. We still have more testing. So, far the
                Methalyation (sp?) testing was done. From what I understand they were
                able to test for the deletion of Chromosome 15 and see this. It was
                positive. PW runs on the paternal side where as AS runs maternally. I
                apologize if I may be confusing you. The genetics of AS really confuse me.

                I want to add that had we not been to St. Louis I don't think I would
                have a diagnosis to this day. We went through two years of hell.
                Testing, blood work and insulting doctor's. Thank the Lord we finally
                found doctor's who would weigh every option and not look at me like I
                was a careless idiot when they found out he was on Medicaid and that I
                was a single mom. Seriously. Ok, rant over.

                The diagnosis has great impact. If you have a diagnosis then you have
                a prognosis. And with a prognosis you will know how to take care of
                your child and what to expect. The diagnosis filled me full of relief
                at first. This was because Josh had been so ill and I was worried that
                he would be diagnosed with some rare condition that altered his life
                span. I was that worried. With the diagnosis I found information.
                Knowledge is power. The diagnosis also made me sad. Almost like a
                dream had died. I cried at the fact he would never speak really. It
                was hard but, I am happy I have a diagnosis. I would be lying if I
                said it didn't change anything. But, it does. And for the better. The
                relief feels good. Just finally knowing.

                Anyway I hope this helps you out.

                Much love,
                Donna

                Did you say "over-eating" or "over-heating?' I read somewhere that
                Angels are heat sensitive and get warm easily. If you meant
                over-eating Prader-Willi syndrome would be another thing to look into.

                If you could elaborate on some more of his symptoms. And I would
                encourage you to post pics here. We would love to see him! I now can
                spot an angel if I see one! I guess it's those beautiful eye's and
                that big bright smile. Angels are so precious!

                --- In familiesofangelmansyndrome@yahoogroups.com, "Sonya O'Brien"
                <frogfoot1969@...> wrote:
                >
                > Hello, I will try to make this short. My ds is 3, we have an array
                > of diagnosis but none seem to fit. My most recent concern is his
                > overheating problem. The Neuro and Geneticist act like they have
                > never seen anything like it before, as well as the his MRI results.
                > I came across the Angelman Syndrome foundation and my ds fits every
                > feature except four. I know that having a diagnosis will not change
                > anything but it will put my mind at ease that I will finally have an
                > answer and can stop worry that it is a progressive disorder. My ds
                > has had numerous genetic testing done but angelmans in not one of
                > them. I hate to put him through more blood tests if nothing is going
                > to change. Can anyone let me know if getting the diagnosis helped in
                > anyway, and if you were able to get diagnosis without definative
                > genetics tests? Right now my ds is diagnoses as follows:
                > 1. Global developmental delay 56%
                > 2. Macrocephaly
                > 3. Cerebral demyelination of uncertain etiology
                > 4. Moderate spastic diplegia cerebral palsy
                > 6. Sensory integration disorder
                > 7. Dysarthria/Apraxia
                > 8. Autistic Spectrum Disorder with hyperlexia
                > I read on the Angelman web site that AS children are often diagnosed
                > with CP, which my son clearly does not fit, His Autism is very high
                > functioning but it is severe enough to agree with the Autism
                > diagnosis. He is extremely cheerful, happy and outgoing. His laugh
                > is the best thing in the universe!!!!!
                >
                > Thanks for any advice.
                >
                > Sonya
                >





                __________________________________________________
                Do You Yahoo!?
                Tired of spam? Yahoo! Mail has the best spam protection around
                http://mail.yahoo.com

                [Non-text portions of this message have been removed]
              • Sonya OBrien
                I forgot to tell you he just turned 3 in August and started with the public special ed preschool (very hard for me) but he loves it, I am glad. The school cut
                Message 7 of 10 , Oct 17, 2007
                • 0 Attachment
                  I forgot to tell you he just turned 3 in August and started with the public special ed preschool (very hard for me) but he loves it, I am glad. The school cut back his amount of therapy during transition but I did not complain because I think the social aspect is just as important, I am currently seeking additional therapy outpatient but not sure if our ins. will cover but hoping. Our biggest challenges right now are speech, feeding, sensory, stimming, social and tantrums.
                  Sonya

                  Sonya OBrien <frogfoot1969@...> wrote:
                  Hi Donna,
                  I posted some pics of my angel on the group under Sonya's angel Seoc. His name is pronounced Shock it is Gaelic for Jack, we are a little Irish, LOL. I mentioned that he is overheating, the first pic is of him while overheating. It appears that he does not sweat anywhere except his feet. I took his temp and it was up to 102 once I get him the the air conditioning it improves quickly. He loves to be outside and it does not slow him down but he looks like he is going to have a heat stroke, his face gets extremely red but very pale around the nose and mouth, it is not a rash it is flushing.

                  Well it is a long story but will try to keep it brief. Seoc was premature so the first year the ped. kept brushing off my concerns at six months he was not attempting to crawl, then at nine and then at one year we were sent for outpatient therapies but no testing was done and no referral. I kept being told he was just premature and would catch up, they didn't even tell me about early intervention needless to say it was a struggle. Thank God we moved and got a new ped. who immediately did a CT scan then MRI and referrals to specialist and early intervention. We were lucky enough to get approved for disability without any diagnosis other than a 56% global developmental delay. We have private ins. and medicaid (we could not make it without the medicaid)

                  The first neuro we saw suspected a genetic disorder, the geneticist tested for alot of different things but found nothing, the second neuro we saw said she believes he has a neuro-genetic disorder. We just recently got a second opinion geneticist who had no insight. All of them said he did not have Autism because he was too outgoing and had good eye contact, but he was eventually diagnosed by the developmental ped and child psych with Autistic spectrum disorder because he has so many autistic characteristic.
                  The feature from Angelman syndrome that hit me most was the Behavioral uniqueness, combination of frequent laughter/smiling and happy demeanor, Very easily excitable personality, the hand flapping, hypermotoric behavior, and short attention span. The severe developmental delay, speech impairment, movement/balance disorder/ trembling limbs, possible absent seizures, flat back of the head, suck/swallowing disorder, when he was smaller protruded/thrusted his tongue, feeding problems (still), excessive chewing, strabismus, increased sensitivity to heat, sleep disturbance (with him it is excessive sleeping) attraction to/fascination with water, delayed but forward progression of developmental with no loss of skills, may have mild cortical dysmyelination (Seoc is not mild). Seoc also has a tooth abnormality where one front tooth is fused to the one next to it, the dentist also stated he thinks it is also an extra tooth. So you can see why I am 99% sure this is what he has. He
                  has no social skills with children and no interest in them, but loves adults.

                  The article also states that other clinical disorders can mimic AS, and he has been diagnosed with two the CP and static encephalopathy with mild infantile autism. It seems pretty clear cut to me. What do you think.

                  I phoned my mom and read of the list and she said that explains him to a tee. I have no doubt just not sure how to present it to his Doctor. It is actually ironic because I have always called him my Angel, he is the sweetest, happiest boy who loves big bear hugs. He lights up the world with his smile, when I pick him up from school I can hear him giggling before he burst out the door MY RAY OF SUNSHINE!!

                  Thank you so much for sharing Jasons story with me and for taking the time to listen to me and give much needed advice.

                  Sonya


                  Donna <iamdonna42701@...> wrote:
                  Sonya,
                  Hello. My name is Donna and my son is Joshua. He is now 4 years old. I
                  had never heard of AS. We went through all the testing as well. They
                  tested for everything...well, almost everything. I guess the more
                  common one's such as CP, MS, MD, CF. They even tested for Prader-Willi
                  Syndrome locally. Finally, right before Josh's 2nd birthday we had a
                  visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
                  Syndrome. The neurologist, to this day, says she was surprised by the
                  outcome of Angelman Syndrome. We still have more testing. So, far the
                  Methalyation (sp?) testing was done. From what I understand they were
                  able to test for the deletion of Chromosome 15 and see this. It was
                  positive. PW runs on the paternal side where as AS runs maternally. I
                  apologize if I may be confusing you. The genetics of AS really confuse me.

                  I want to add that had we not been to St. Louis I don't think I would
                  have a diagnosis to this day. We went through two years of hell.
                  Testing, blood work and insulting doctor's. Thank the Lord we finally
                  found doctor's who would weigh every option and not look at me like I
                  was a careless idiot when they found out he was on Medicaid and that I
                  was a single mom. Seriously. Ok, rant over.

                  The diagnosis has great impact. If you have a diagnosis then you have
                  a prognosis. And with a prognosis you will know how to take care of
                  your child and what to expect. The diagnosis filled me full of relief
                  at first. This was because Josh had been so ill and I was worried that
                  he would be diagnosed with some rare condition that altered his life
                  span. I was that worried. With the diagnosis I found information.
                  Knowledge is power. The diagnosis also made me sad. Almost like a
                  dream had died. I cried at the fact he would never speak really. It
                  was hard but, I am happy I have a diagnosis. I would be lying if I
                  said it didn't change anything. But, it does. And for the better. The
                  relief feels good. Just finally knowing.

                  Anyway I hope this helps you out.

                  Much love,
                  Donna

                  Did you say "over-eating" or "over-heating?' I read somewhere that
                  Angels are heat sensitive and get warm easily. If you meant
                  over-eating Prader-Willi syndrome would be another thing to look into.

                  If you could elaborate on some more of his symptoms. And I would
                  encourage you to post pics here. We would love to see him! I now can
                  spot an angel if I see one! I guess it's those beautiful eye's and
                  that big bright smile. Angels are so precious!

                  --- In familiesofangelmansyndrome@yahoogroups.com, "Sonya O'Brien"
                  <frogfoot1969@...> wrote:
                  >
                  > Hello, I will try to make this short. My ds is 3, we have an array
                  > of diagnosis but none seem to fit. My most recent concern is his
                  > overheating problem. The Neuro and Geneticist act like they have
                  > never seen anything like it before, as well as the his MRI results.
                  > I came across the Angelman Syndrome foundation and my ds fits every
                  > feature except four. I know that having a diagnosis will not change
                  > anything but it will put my mind at ease that I will finally have an
                  > answer and can stop worry that it is a progressive disorder. My ds
                  > has had numerous genetic testing done but angelmans in not one of
                  > them. I hate to put him through more blood tests if nothing is going
                  > to change. Can anyone let me know if getting the diagnosis helped in
                  > anyway, and if you were able to get diagnosis without definative
                  > genetics tests? Right now my ds is diagnoses as follows:
                  > 1. Global developmental delay 56%
                  > 2. Macrocephaly
                  > 3. Cerebral demyelination of uncertain etiology
                  > 4. Moderate spastic diplegia cerebral palsy
                  > 6. Sensory integration disorder
                  > 7. Dysarthria/Apraxia
                  > 8. Autistic Spectrum Disorder with hyperlexia
                  > I read on the Angelman web site that AS children are often diagnosed
                  > with CP, which my son clearly does not fit, His Autism is very high
                  > functioning but it is severe enough to agree with the Autism
                  > diagnosis. He is extremely cheerful, happy and outgoing. His laugh
                  > is the best thing in the universe!!!!!
                  >
                  > Thanks for any advice.
                  >
                  > Sonya
                  >

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                • Sonya O'Brien
                  Hi Donna you said you sometimes can tell by looking at pics if they have AS. Have you had a chance to look at my ds Seoc? I am curious what you think. I posted
                  Message 8 of 10 , Oct 21, 2007
                  • 0 Attachment
                    Hi Donna you said you sometimes can tell by looking at pics if they
                    have AS. Have you had a chance to look at my ds Seoc? I am curious
                    what you think. I posted them on both groups under Sonya's angel. I
                    put in a call to our neuro and geneticist. I think I offended the
                    Neuro, she said that she is well aware of AS and that my ds doesn't
                    have the facial characteristics but she would discuss it with the
                    Geneticist on Thursday. I saw a picture of a girl on the Angelman
                    syndrome foundation site that looks like she could be Seoc's sister.
                    So I am a bit irritated by her comment. Also I was told by his ped,
                    genticist and neuro that he was not autistic and then later he was
                    diagnosed by the developmental ped and psych with Autism so I don't
                    take much stock in what these so called specialist have to say. I
                    trust your opinion much more.

                    Thanks, Sonya

                    --- In familiesofangelmansyndrome@yahoogroups.com, "Donna"
                    <iamdonna42701@...> wrote:
                    >
                    > Sonya,
                    > Hello. My name is Donna and my son is Joshua. He is now 4 years
                    old. I
                    > had never heard of AS. We went through all the testing as well.
                    They
                    > tested for everything...well, almost everything. I guess the more
                    > common one's such as CP, MS, MD, CF. They even tested for Prader-
                    Willi
                    > Syndrome locally. Finally, right before Josh's 2nd birthday we had
                    a
                    > visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
                    > Syndrome. The neurologist, to this day, says she was surprised by
                    the
                    > outcome of Angelman Syndrome. We still have more testing. So, far
                    the
                    > Methalyation (sp?) testing was done. From what I understand they
                    were
                    > able to test for the deletion of Chromosome 15 and see this. It was
                    > positive. PW runs on the paternal side where as AS runs
                    maternally. I
                    > apologize if I may be confusing you. The genetics of AS really
                    confuse me.
                    >
                    > I want to add that had we not been to St. Louis I don't think I
                    would
                    > have a diagnosis to this day. We went through two years of hell.
                    > Testing, blood work and insulting doctor's. Thank the Lord we
                    finally
                    > found doctor's who would weigh every option and not look at me
                    like I
                    > was a careless idiot when they found out he was on Medicaid and
                    that I
                    > was a single mom. Seriously. Ok, rant over.
                    >
                    > The diagnosis has great impact. If you have a diagnosis then you
                    have
                    > a prognosis. And with a prognosis you will know how to take care of
                    > your child and what to expect. The diagnosis filled me full of
                    relief
                    > at first. This was because Josh had been so ill and I was worried
                    that
                    > he would be diagnosed with some rare condition that altered his
                    life
                    > span. I was that worried. With the diagnosis I found information.
                    > Knowledge is power. The diagnosis also made me sad. Almost like a
                    > dream had died. I cried at the fact he would never speak really. It
                    > was hard but, I am happy I have a diagnosis. I would be lying if I
                    > said it didn't change anything. But, it does. And for the better.
                    The
                    > relief feels good. Just finally knowing.
                    >
                    > Anyway I hope this helps you out.
                    >
                    > Much love,
                    > Donna
                    >
                    > Did you say "over-eating" or "over-heating?' I read somewhere that
                    > Angels are heat sensitive and get warm easily. If you meant
                    > over-eating Prader-Willi syndrome would be another thing to look
                    into.
                    >
                    > If you could elaborate on some more of his symptoms. And I would
                    > encourage you to post pics here. We would love to see him! I now
                    can
                    > spot an angel if I see one! I guess it's those beautiful eye's and
                    > that big bright smile. Angels are so precious!
                    >
                    >
                    >
                    >
                    >
                    >
                    >
                    >
                    >
                    > --- In familiesofangelmansyndrome@yahoogroups.com, "Sonya O'Brien"
                    > <frogfoot1969@> wrote:
                    > >
                    > > Hello, I will try to make this short. My ds is 3, we have an
                    array
                    > > of diagnosis but none seem to fit. My most recent concern is his
                    > > overheating problem. The Neuro and Geneticist act like they have
                    > > never seen anything like it before, as well as the his MRI
                    results.
                    > > I came across the Angelman Syndrome foundation and my ds fits
                    every
                    > > feature except four. I know that having a diagnosis will not
                    change
                    > > anything but it will put my mind at ease that I will finally
                    have an
                    > > answer and can stop worry that it is a progressive disorder. My
                    ds
                    > > has had numerous genetic testing done but angelmans in not one
                    of
                    > > them. I hate to put him through more blood tests if nothing is
                    going
                    > > to change. Can anyone let me know if getting the diagnosis
                    helped in
                    > > anyway, and if you were able to get diagnosis without definative
                    > > genetics tests? Right now my ds is diagnoses as follows:
                    > > 1. Global developmental delay 56%
                    > > 2. Macrocephaly
                    > > 3. Cerebral demyelination of uncertain etiology
                    > > 4. Moderate spastic diplegia cerebral palsy
                    > > 6. Sensory integration disorder
                    > > 7. Dysarthria/Apraxia
                    > > 8. Autistic Spectrum Disorder with hyperlexia
                    > > I read on the Angelman web site that AS children are often
                    diagnosed
                    > > with CP, which my son clearly does not fit, His Autism is very
                    high
                    > > functioning but it is severe enough to agree with the Autism
                    > > diagnosis. He is extremely cheerful, happy and outgoing. His
                    laugh
                    > > is the best thing in the universe!!!!!
                    > >
                    > > Thanks for any advice.
                    > >
                    > > Sonya
                    > >
                    >
                  • lava
                    I wouldn t put a lot of stock in looks. There s too much of a spectrum for that to mean much :) -Lara ... [Non-text portions of this message have been
                    Message 9 of 10 , Oct 21, 2007
                    • 0 Attachment
                      I wouldn't put a lot of stock in "looks." There's too much of a
                      spectrum for that to mean much :)
                      -Lara

                      At 04:10 PM 10/21/2007, you wrote:

                      >Hi Donna you said you sometimes can tell by looking at pics if they
                      >have AS. Have you had a chance to look at my ds Seoc? I am curious
                      >what you think. I posted them on both groups under Sonya's angel. I
                      >put in a call to our neuro and geneticist. I think I offended the
                      >Neuro, she said that she is well aware of AS and that my ds doesn't
                      >have the facial characteristics but she would discuss it with the
                      >Geneticist on Thursday. I saw a picture of a girl on the Angelman
                      >syndrome foundation site that looks like she could be Seoc's sister.
                      >So I am a bit irritated by her comment. Also I was told by his ped,
                      >genticist and neuro that he was not autistic and then later he was
                      >diagnosed by the developmental ped and psych with Autism so I don't
                      >take much stock in what these so called specialist have to say. I
                      >trust your opinion much more.
                      >
                      >Thanks, Sonya
                      >
                      >--- In
                      ><mailto:familiesofangelmansyndrome%40yahoogroups.com>familiesofangelmansyndrome@yahoogroups.com,
                      >"Donna"
                      ><iamdonna42701@...> wrote:
                      > >
                      > > Sonya,
                      > > Hello. My name is Donna and my son is Joshua. He is now 4 years
                      >old. I
                      > > had never heard of AS. We went through all the testing as well.
                      >They
                      > > tested for everything...well, almost everything. I guess the more
                      > > common one's such as CP, MS, MD, CF. They even tested for Prader-
                      >Willi
                      > > Syndrome locally. Finally, right before Josh's 2nd birthday we had
                      >a
                      > > visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
                      > > Syndrome. The neurologist, to this day, says she was surprised by
                      >the
                      > > outcome of Angelman Syndrome. We still have more testing. So, far
                      >the
                      > > Methalyation (sp?) testing was done. From what I understand they
                      >were
                      > > able to test for the deletion of Chromosome 15 and see this. It was
                      > > positive. PW runs on the paternal side where as AS runs
                      >maternally. I
                      > > apologize if I may be confusing you. The genetics of AS really
                      >confuse me.
                      > >
                      > > I want to add that had we not been to St. Louis I don't think I
                      >would
                      > > have a diagnosis to this day. We went through two years of hell.
                      > > Testing, blood work and insulting doctor's. Thank the Lord we
                      >finally
                      > > found doctor's who would weigh every option and not look at me
                      >like I
                      > > was a careless idiot when they found out he was on Medicaid and
                      >that I
                      > > was a single mom. Seriously. Ok, rant over.
                      > >
                      > > The diagnosis has great impact. If you have a diagnosis then you
                      >have
                      > > a prognosis. And with a prognosis you will know how to take care of
                      > > your child and what to expect. The diagnosis filled me full of
                      >relief
                      > > at first. This was because Josh had been so ill and I was worried
                      >that
                      > > he would be diagnosed with some rare condition that altered his
                      >life
                      > > span. I was that worried. With the diagnosis I found information.
                      > > Knowledge is power. The diagnosis also made me sad. Almost like a
                      > > dream had died. I cried at the fact he would never speak really. It
                      > > was hard but, I am happy I have a diagnosis. I would be lying if I
                      > > said it didn't change anything. But, it does. And for the better.
                      >The
                      > > relief feels good. Just finally knowing.
                      > >
                      > > Anyway I hope this helps you out.
                      > >
                      > > Much love,
                      > > Donna
                      > >
                      > > Did you say "over-eating" or "over-heating?' I read somewhere that
                      > > Angels are heat sensitive and get warm easily. If you meant
                      > > over-eating Prader-Willi syndrome would be another thing to look
                      >into.
                      > >
                      > > If you could elaborate on some more of his symptoms. And I would
                      > > encourage you to post pics here. We would love to see him! I now
                      >can
                      > > spot an angel if I see one! I guess it's those beautiful eye's and
                      > > that big bright smile. Angels are so precious!
                      > >
                      > >
                      > >
                      > >
                      > >
                      > >
                      > >
                      > >
                      > >
                      > > --- In
                      > <mailto:familiesofangelmansyndrome%40yahoogroups.com>familiesofangelmansyndrome@yahoogroups.com,
                      > "Sonya O'Brien"
                      > > <frogfoot1969@> wrote:
                      > > >
                      > > > Hello, I will try to make this short. My ds is 3, we have an
                      >array
                      > > > of diagnosis but none seem to fit. My most recent concern is his
                      > > > overheating problem. The Neuro and Geneticist act like they have
                      > > > never seen anything like it before, as well as the his MRI
                      >results.
                      > > > I came across the Angelman Syndrome foundation and my ds fits
                      >every
                      > > > feature except four. I know that having a diagnosis will not
                      >change
                      > > > anything but it will put my mind at ease that I will finally
                      >have an
                      > > > answer and can stop worry that it is a progressive disorder. My
                      >ds
                      > > > has had numerous genetic testing done but angelmans in not one
                      >of
                      > > > them. I hate to put him through more blood tests if nothing is
                      >going
                      > > > to change. Can anyone let me know if getting the diagnosis
                      >helped in
                      > > > anyway, and if you were able to get diagnosis without definative
                      > > > genetics tests? Right now my ds is diagnoses as follows:
                      > > > 1. Global developmental delay 56%
                      > > > 2. Macrocephaly
                      > > > 3. Cerebral demyelination of uncertain etiology
                      > > > 4. Moderate spastic diplegia cerebral palsy
                      > > > 6. Sensory integration disorder
                      > > > 7. Dysarthria/Apraxia
                      > > > 8. Autistic Spectrum Disorder with hyperlexia
                      > > > I read on the Angelman web site that AS children are often
                      >diagnosed
                      > > > with CP, which my son clearly does not fit, His Autism is very
                      >high
                      > > > functioning but it is severe enough to agree with the Autism
                      > > > diagnosis. He is extremely cheerful, happy and outgoing. His
                      >laugh
                      > > > is the best thing in the universe!!!!!
                      > > >
                      > > > Thanks for any advice.
                      > > >
                      > > > Sonya
                      > > >
                      > >
                      >
                      >


                      [Non-text portions of this message have been removed]
                    • Sonya OBrien
                      I know that is my point the Dr. said he doesn t Look like other AS kids. If it is as rare as I have read how many AS kids has she seen?? I am just very
                      Message 10 of 10 , Oct 22, 2007
                      • 0 Attachment
                        I know that is my point the Dr. said he doesn't "Look" like other AS kids. If it is as rare as I have read how many AS kids has she seen?? I am just very frustrated with the Drs. right now it seems that my ds has seen every specialist known to man and they are clueless. So I thought an opinion from other parents would give me more insight. Thanks for your thoughts.
                        Sonya

                        lava <lava@...> wrote:
                        I wouldn't put a lot of stock in "looks." There's too much of a
                        spectrum for that to mean much :)
                        -Lara

                        At 04:10 PM 10/21/2007, you wrote:

                        >Hi Donna you said you sometimes can tell by looking at pics if they
                        >have AS. Have you had a chance to look at my ds Seoc? I am curious
                        >what you think. I posted them on both groups under Sonya's angel. I
                        >put in a call to our neuro and geneticist. I think I offended the
                        >Neuro, she said that she is well aware of AS and that my ds doesn't
                        >have the facial characteristics but she would discuss it with the
                        >Geneticist on Thursday. I saw a picture of a girl on the Angelman
                        >syndrome foundation site that looks like she could be Seoc's sister.
                        >So I am a bit irritated by her comment. Also I was told by his ped,
                        >genticist and neuro that he was not autistic and then later he was
                        >diagnosed by the developmental ped and psych with Autism so I don't
                        >take much stock in what these so called specialist have to say. I
                        >trust your opinion much more.
                        >
                        >Thanks, Sonya
                        >
                        >--- In
                        ><mailto:familiesofangelmansyndrome%40yahoogroups.com>familiesofangelmansyndrome@yahoogroups.com,
                        >"Donna"
                        ><iamdonna42701@...> wrote:
                        > >
                        > > Sonya,
                        > > Hello. My name is Donna and my son is Joshua. He is now 4 years
                        >old. I
                        > > had never heard of AS. We went through all the testing as well.
                        >They
                        > > tested for everything...well, almost everything. I guess the more
                        > > common one's such as CP, MS, MD, CF. They even tested for Prader-
                        >Willi
                        > > Syndrome locally. Finally, right before Josh's 2nd birthday we had
                        >a
                        > > visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
                        > > Syndrome. The neurologist, to this day, says she was surprised by
                        >the
                        > > outcome of Angelman Syndrome. We still have more testing. So, far
                        >the
                        > > Methalyation (sp?) testing was done. From what I understand they
                        >were
                        > > able to test for the deletion of Chromosome 15 and see this. It was
                        > > positive. PW runs on the paternal side where as AS runs
                        >maternally. I
                        > > apologize if I may be confusing you. The genetics of AS really
                        >confuse me.
                        > >
                        > > I want to add that had we not been to St. Louis I don't think I
                        >would
                        > > have a diagnosis to this day. We went through two years of hell.
                        > > Testing, blood work and insulting doctor's. Thank the Lord we
                        >finally
                        > > found doctor's who would weigh every option and not look at me
                        >like I
                        > > was a careless idiot when they found out he was on Medicaid and
                        >that I
                        > > was a single mom. Seriously. Ok, rant over.
                        > >
                        > > The diagnosis has great impact. If you have a diagnosis then you
                        >have
                        > > a prognosis. And with a prognosis you will know how to take care of
                        > > your child and what to expect. The diagnosis filled me full of
                        >relief
                        > > at first. This was because Josh had been so ill and I was worried
                        >that
                        > > he would be diagnosed with some rare condition that altered his
                        >life
                        > > span. I was that worried. With the diagnosis I found information.
                        > > Knowledge is power. The diagnosis also made me sad. Almost like a
                        > > dream had died. I cried at the fact he would never speak really. It
                        > > was hard but, I am happy I have a diagnosis. I would be lying if I
                        > > said it didn't change anything. But, it does. And for the better.
                        >The
                        > > relief feels good. Just finally knowing.
                        > >
                        > > Anyway I hope this helps you out.
                        > >
                        > > Much love,
                        > > Donna
                        > >
                        > > Did you say "over-eating" or "over-heating?' I read somewhere that
                        > > Angels are heat sensitive and get warm easily. If you meant
                        > > over-eating Prader-Willi syndrome would be another thing to look
                        >into.
                        > >
                        > > If you could elaborate on some more of his symptoms. And I would
                        > > encourage you to post pics here. We would love to see him! I now
                        >can
                        > > spot an angel if I see one! I guess it's those beautiful eye's and
                        > > that big bright smile. Angels are so precious!
                        > >
                        > >
                        > >
                        > >
                        > >
                        > >
                        > >
                        > >
                        > >
                        > > --- In
                        > <mailto:familiesofangelmansyndrome%40yahoogroups.com>familiesofangelmansyndrome@yahoogroups.com,
                        > "Sonya O'Brien"
                        > > <frogfoot1969@> wrote:
                        > > >
                        > > > Hello, I will try to make this short. My ds is 3, we have an
                        >array
                        > > > of diagnosis but none seem to fit. My most recent concern is his
                        > > > overheating problem. The Neuro and Geneticist act like they have
                        > > > never seen anything like it before, as well as the his MRI
                        >results.
                        > > > I came across the Angelman Syndrome foundation and my ds fits
                        >every
                        > > > feature except four. I know that having a diagnosis will not
                        >change
                        > > > anything but it will put my mind at ease that I will finally
                        >have an
                        > > > answer and can stop worry that it is a progressive disorder. My
                        >ds
                        > > > has had numerous genetic testing done but angelmans in not one
                        >of
                        > > > them. I hate to put him through more blood tests if nothing is
                        >going
                        > > > to change. Can anyone let me know if getting the diagnosis
                        >helped in
                        > > > anyway, and if you were able to get diagnosis without definative
                        > > > genetics tests? Right now my ds is diagnoses as follows:
                        > > > 1. Global developmental delay 56%
                        > > > 2. Macrocephaly
                        > > > 3. Cerebral demyelination of uncertain etiology
                        > > > 4. Moderate spastic diplegia cerebral palsy
                        > > > 6. Sensory integration disorder
                        > > > 7. Dysarthria/Apraxia
                        > > > 8. Autistic Spectrum Disorder with hyperlexia
                        > > > I read on the Angelman web site that AS children are often
                        >diagnosed
                        > > > with CP, which my son clearly does not fit, His Autism is very
                        >high
                        > > > functioning but it is severe enough to agree with the Autism
                        > > > diagnosis. He is extremely cheerful, happy and outgoing. His
                        >laugh
                        > > > is the best thing in the universe!!!!!
                        > > >
                        > > > Thanks for any advice.
                        > > >
                        > > > Sonya
                        > > >
                        > >
                        >
                        >

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