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2394Re: [Families of Angelman Syndrome] New and Seeking Answers

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  • Donna ODriscoll
    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 )






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