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New and Seeking Answers

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  • Crystal
    Hello all I m new to this Group.... My son was Diagnosised with Infantile Spasms and Focal Siezures at 3 months old but we are just now starting to get some
    Message 1 of 3 , May 4, 2008
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      Hello all I'm new to this Group.... My son was Diagnosised with
      Infantile Spasms and Focal Siezures at 3 months old but we are just now
      starting to get some answers has to why... He is now 3 1/2 years old
      and will possible be diagnosised with angelman syndrome...(Still
      waiting for blood tests) We met with a genetic specialist in hopes of
      finding out why noah is the way he is and he suggested the blood test
      for angelman syndrome... when he started to tell us some of the signs
      it was so exact in almost all areas it was scary... we had wondered why
      no other doctors had notice... the only thing was he doesnt have any of
      the facial features and he is not feel heat...He is pretty much numb to
      feeling anything... but what I was wondering if anyone has a child with
      infantile spasms and angelman syndrome and also lately noah has been
      crying a lot and we do not know what is wrong... I was wondering if it
      is possible for him to feel jealous I have a newborn girl and a two
      year old as well and it seems as though it may be jealousy ... any
      answers would be great or just a letter of what you have been
      through..THanks

      Crystal Travioli ( mother of three Noah 3, Aidan 2, Ava 4 Months )
    • Meredith Villarreal
      Crystal, It is nice to meet you. I am Meredith I have a 4yr old that was just dx this year with AS and a 10 month old that is undergoing testing for it as well
      Message 2 of 3 , May 5, 2008
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        Crystal,
        It is nice to meet you. I am Meredith I have a 4yr old that was just dx this year with AS and a 10 month old that is undergoing testing for it as well because she is already delelopmentally delayed and has infamtile seizures. Although my Triniti (the 4 yr old) did not begin having seizures until after she was 3 Liliana does so I am not sure if it is AS or not. I know how hard it is to get answers from doctors. I had about given up on getting a dx for Trin and then the nuro did a EEG on her and said that it looked like AS I went strait to my comp when I got home and looked up the symptoms and like you felt like it was her to a T. She also does not have the facial features but after reading more about the various ways you can get AS I think that I have found that only one of the ways is normally charicterised with facial features and even so it is not in all of them. So it is possible that your son still has AS. As far as the crying Triniti did that when
        Liliana first came home and she still does it ocasionally and I too though that it was jealousy but it is so hard since she can not tell me how she is feeling. She also crys when she gets constipated which is a lot because her medication causes it. I give her several cups of pear juice and by the next day she is back to her smily giggly self! I could go on and on about all the things that Trin does that are typical AS child but that would make this note extreamly long. I am free to talk though if you would like. Just email me back privatly and I will give you my number if you need some one to talk to. 

         Meredith Villarreal wife to Carlos, mom to Triniti 4yrs DEL+ and Liliana 10mos
        http://www.firstgiving.com/triniti_angel
        froggie4309@...



        ----- Original Message ----
        From: Crystal <crystaltravioli@...>
        To: familiesofangelmansyndrome@yahoogroups.com
        Sent: Sunday, May 4, 2008 9:36:55 PM
        Subject: [Families of Angelman Syndrome] New and Seeking Answers


        Hello all I'm new to this Group.... My son was Diagnosised with
        Infantile Spasms and Focal Siezures at 3 months old but we are just now
        starting to get some answers has to why... He is now 3 1/2 years old
        and will possible be diagnosised with angelman syndrome...( Still
        waiting for blood tests) We met with a genetic specialist in hopes of
        finding out why noah is the way he is and he suggested the blood test
        for angelman syndrome... when he started to tell us some of the signs
        it was so exact in almost all areas it was scary... we had wondered why
        no other doctors had notice... the only thing was he doesnt have any of
        the facial features and he is not feel heat...He is pretty much numb to
        feeling anything... but what I was wondering if anyone has a child with
        infantile spasms and angelman syndrome and also lately noah has been
        crying a lot and we do not know what is wrong... I was wondering if it
        is possible for him to feel jealous I have a newborn girl and a two
        year old as well and it seems as though it may be jealousy ... any
        answers would be great or just a letter of what you have been
        through..THanks

        Crystal Travioli ( mother of three Noah 3, Aidan 2, Ava 4 Months )




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      • Donna ODriscoll
        Hi Crystal My son Dylan is 2 and was diagnosed with AS nearly a year ago. We were also told that he had infantile spasms a few months before this. This is a
        Message 3 of 3 , May 5, 2008
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          Hi Crystal

          My son Dylan is 2 and was diagnosed with AS nearly a year ago. We were also told that he had infantile spasms a few months before this.
          This is a subject that has come up alot with us recently while trying to get an appointment with our neuro. When we were told that Dylan had infantile spasms things moved really quickly and they got him in and put him on a really high dose of steroids. We were told that this was the reason Dylan was delayed and twitching etc.
          Then they put us in touch with the local epilepsy nurse and it was only her that told us that IS wasn't a diagnosis it was a symptom and that it was the underlying cause of some other neurological condition. I pushed for genetic testing as I had read about AS and it was like reading about Dylan. Eventually they confirmed it. We were then told to forget about the IS and just put it down to Angelman Syndrome. I have always thought up until a week ago that he had both IS and AS.
          After some advice from people on this listserv I questioned the epilepsy nurse about an EEG. I asked her if a hypsyrrythmic (sp!) EEG could've been mistaken for an AS EEG. She said that the abnornal AS EEG and the Infantile spasm EEG are very similar and if they had known about the Angelman Syndrome before, then Infantile Spasms probably wouldn't have been mentioned. I hope you can understand this so far.
          He's going to be having another EEG in the near future and I'm hoping this will confirm this. He was having the absences and twitching but not the typical arching of the torso or jack knifing that comes with Infantile Spasms.

          I hope this helps

          Donna
          Mummy to Dylan (2 tomorrow - Del+)
          UK

          Crystal <crystaltravioli@...> wrote:
          Hello all I'm new to this Group.... My son was Diagnosised with
          Infantile Spasms and Focal Siezures at 3 months old but we are just now
          starting to get some answers has to why... He is now 3 1/2 years old
          and will possible be diagnosised with angelman syndrome...(Still
          waiting for blood tests) We met with a genetic specialist in hopes of
          finding out why noah is the way he is and he suggested the blood test
          for angelman syndrome... when he started to tell us some of the signs
          it was so exact in almost all areas it was scary... we had wondered why
          no other doctors had notice... the only thing was he doesnt have any of
          the facial features and he is not feel heat...He is pretty much numb to
          feeling anything... but what I was wondering if anyone has a child with
          infantile spasms and angelman syndrome and also lately noah has been
          crying a lot and we do not know what is wrong... I was wondering if it
          is possible for him to feel jealous I have a newborn girl and a two
          year old as well and it seems as though it may be jealousy ... any
          answers would be great or just a letter of what you have been
          through..THanks

          Crystal Travioli ( mother of three Noah 3, Aidan 2, Ava 4 Months )






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