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  • momonaquest <SVOGELE@ATTBI.COM>
    Hi: We are the parents of a 21 month old girl who at this point has a clinical diagnosis of Angelman s. Her chromosone FISH test came back normal. I ve found
    Message 1 of 13 , Feb 4 6:27 AM
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      Hi:

      We are the parents of a 21 month old girl who at this point has a
      clinical diagnosis of Angelman's. Her chromosone FISH test came
      back normal. I've found research that suggests more detailed
      analysis testing that I'm trying to get our neurologist/genetist to
      order. Our daughter has: 1) infantile spasms/intractable seizures,
      2) delayed myelination, 3) retinitis pigmentosa, 4) hypotonia, 5)
      very widely spaced teeth, 6) a happy disposition, 7) smiles/laughs
      frequently, 8) moves arms/legs jerkily (as if on a string....), does
      this all sound very familiar? She is over medicated on seizure
      meds. We've been thru ACTH. We are now trying the ketogenic diet.
      It may be helping. SHe is waking up more, babbling more, and is
      more interactive. She is absolutely a joy to me, but I am going
      crazy without a definitive diagnosis. THey just keep saying
      cerebral palsy of undetermined etiology despite an exhaustive
      workup. She has a normal chromosone analysis. I'm very interested
      in the testing that the parent in Texas was going thru. Please tell
      me more. I'm truly looking forward to meeting familes with AS. If
      there are future conferences, please let us know. We'll try hard to
      attend. Thank you so much! Duane and Stacey Vogele
    • rocketwatts2003 <rocketwatts2003@yahoo.c
      My name is Meagan and our Angel is Phoebe. She is 14 months, and although we didn t have any trouble with our diagnosis, the symptoms you describe do seem
      Message 2 of 13 , Feb 18 11:32 AM
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        My name is Meagan and our Angel is Phoebe. She is 14 months, and
        although we didn't have any trouble with our diagnosis, the symptoms
        you describe do seem familiar. Does she tongue thrust? Is she bearing
        any weight? Feeding issues? Sleep problems? What state are you in
        because I can recommend specialists in Oregon. I know a family in WA
        who didn't get a diagnosos until age 24, and one in Salem that had to
        wait until age 10. If you'd like to talk to them I can connect you. I
        worry about the ketogenic diet in one so young, but I haven't had to
        make that decision yet, as we haven't seen any seizures yet. We dealt
        with lots of hospital time and surgery for SEVERE failure to thrive,
        had a stomach wrap, and a g-tube put in, happy little girl who's had
        to deal with a lot of pain. I thought we might have a lot to talk
        about because our kids are both so young.
        For anyone else out there, got any advise on keeping the food in the
        child? She spits everything out and the insurance won't pay for the
        special formula, so we've got to get her off the g-tube, but she's
        just not gaining weight. She's been hovering at 15 pounds for 2
        months, more volume gives her a stomach ache, and we're feeding every
        2-3 hrs, AROUND THE CLOCK.


        --- In familiesofangelmansyndrome@yahoogroups.com, "momonaquest
        <SVOGELE@A...>" <SVOGELE@A...> wrote:
        > Hi:
        >
        > We are the parents of a 21 month old girl who at this point has a
        > clinical diagnosis of Angelman's. Her chromosone FISH test came
        > back normal. I've found research that suggests more detailed
        > analysis testing that I'm trying to get our neurologist/genetist to
        > order. Our daughter has: 1) infantile spasms/intractable
        seizures,
        > 2) delayed myelination, 3) retinitis pigmentosa, 4) hypotonia, 5)
        > very widely spaced teeth, 6) a happy disposition, 7) smiles/laughs
        > frequently, 8) moves arms/legs jerkily (as if on a string....),
        does
        > this all sound very familiar? She is over medicated on seizure
        > meds. We've been thru ACTH. We are now trying the ketogenic
        diet.
        > It may be helping. SHe is waking up more, babbling more, and is
        > more interactive. She is absolutely a joy to me, but I am going
        > crazy without a definitive diagnosis. THey just keep saying
        > cerebral palsy of undetermined etiology despite an exhaustive
        > workup. She has a normal chromosone analysis. I'm very interested
        > in the testing that the parent in Texas was going thru. Please
        tell
        > me more. I'm truly looking forward to meeting familes with AS. If
        > there are future conferences, please let us know. We'll try hard
        to
        > attend. Thank you so much! Duane and Stacey Vogele
      • wsj88
        Hi everyone....just a quick note....when Matt was just months old he was not gaining weight either....the doctor had us put Karo syrup in his food/drink...it s
        Message 3 of 13 , Feb 21 8:02 AM
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          Hi everyone....just a quick note....when Matt was just months old he
          was not gaining weight either....the doctor had us put Karo syrup in
          his food/drink...it's been a while, but as I recall it was like a
          tablespoonful with each meal...either in the cereal or drink....check
          with your doctor before trying this, but it came from a doc that has
          dealt with Angelman kids before. Worked for Matt and he started
          gaining regularly...not as fast as other kids, but at least it was
          something...

          Take care and don't forget to check with your doc first...

          Wendy mother of Matthew, 10, del+
        • sazcopey
          hi everyone i,m sarah .Ihave a 2 1/2 year old angel declan. we live in the uk .declan is the usual little angel he loves life laughing his way through the day.
          Message 4 of 13 , Feb 18 9:33 AM
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            hi everyone i,m sarah .Ihave a 2 1/2 year old angel declan. we live
            in the uk .declan is the usual little angel he loves life laughing
            his way through the day. he can,t walk yet .and he has no speech i
            cant say he has,nt got a voice because most can hear him mile away.
            he still has uncontrolled fits usually 30-50 every 2 weeks.i would
            love to know if anyone is using the picture cards for communication
            and is it working. declan just likes it eat the cards so we,re not
            making much procress. bye for now my angels calling. p.s he,s
            hungurry.
          • RM
            Hello Everyone, New member here. We re the Marx family from Oregon, Mike,Robin Kelly and our Angel Erich who is 11 now. In 1997 We got a diagnosis from Dr.
            Message 5 of 13 , Jul 17, 2005
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              Hello Everyone,
              New member here. We're the Marx family from Oregon, Mike,Robin Kelly
              and our Angel Erich who is 11 now.
              In 1997 We got a diagnosis from Dr. Magenis at OHSU in Portland. The
              FISH test was negative for a deletion.
              After attending the recent conference in Anaheim we have found there
              are new tests available but we are debating on whether they need to be
              done now. After finally meeting other people and families with AS we
              have no doubt Erich is an Angel.
              I tell you though, it feels so good being connected to a group now and
              talking with other people that are dealing with the same day to day
              life as us. We got it good!
              Thanks for listening everyone.
              Robin
            • justannae kirby
              YOUR CHILD IS NORMAL. Bet you never expected to see that, did ya? Ok, so the outside world sees our kids as being different from theirs. They are. But, here in
              Message 6 of 13 , Jul 17, 2005
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                YOUR CHILD IS NORMAL.
                Bet you never expected to see that, did ya?
                Ok, so the outside world sees our kids as being different from theirs.
                They are.
                But, here in our world...the Land of the Angels...our kids are very
                NORMAL!
              • bowheads4ever
                my wife and i just recently found out that our 2yr old son seth has as. we are just trying to talk to others in the same situation.
                Message 7 of 13 , Aug 10, 2005
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                  my wife and i just recently found out that our 2yr old son seth has
                  as. we are just trying to talk to others in the same situation.
                • nichols brandon
                  We Understand Our Son is 5 and has A/S we are by far not a professional , but been through allot. E-Mail us anytime. Hope u Like that attachment.
                  Message 8 of 13 , Aug 10, 2005
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                    We Understand Our Son is 5 and has A/S we are by far not a "professional" , but been through allot. E-Mail us anytime. Hope u Like that attachment.

                    bowheads4ever <bowheads4ever@...> wrote: my wife and i just recently found out that our 2yr old son seth has
                    as. we are just trying to talk to others in the same situation.





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                  • jlindsay1980
                    Would love to talk to other parents with children whom have angelman syndrome. My son Michael was diagnosed in 2001. He will be 6 in september.
                    Message 9 of 13 , Aug 18, 2005
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                      Would love to talk to other parents with children whom have angelman
                      syndrome. My son Michael was diagnosed in 2001. He will be 6 in
                      september.
                    • jlindsay1980
                      My son Michael was diagnosed as del+ 4 years ago. Would love to talk to other parents with children with angelman syndrome
                      Message 10 of 13 , Aug 18, 2005
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                        My son Michael was diagnosed as del+ 4 years ago. Would love to talk to
                        other parents with children with angelman syndrome
                      • andreabi63
                        hi everyone, I m Andrea and I have a son 20 months old who has angelman syndrome I m Italian and my english is not very good. by Andrea
                        Message 11 of 13 , Jun 6, 2008
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                          hi everyone,
                          I'm Andrea and I have a son 20 months old who has angelman syndrome
                          I'm Italian and my english is not very good.
                          by Andrea
                        • Our three angels
                          Welcome Andrea! Why don t you tell us an introduction about your son. It s nice to have you on the list. kathy Mom to Mandy 16, Angie 10, and Rocky 7, all AS
                          Message 12 of 13 , Jun 6, 2008
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                            Welcome Andrea!

                            Why don't you tell us an introduction about your son.

                            It's nice to have you on the list.

                            kathy



                            Mom to Mandy 16, Angie 10, and Rocky 7, all AS ube3a

                            Visit my blog for my personal views on life and marriage
                            http://leonardfamily-our3angels.blogspot.com/

                            Communication Techniques in Angelman Syndrome now available. Click below to order my book.
                            http://www.ourthreeangels.info/
                          • Sonya O'Brien
                            Welcome to the group Andrea! Sonya
                            Message 13 of 13 , Jun 6, 2008
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                              Welcome to the group Andrea!
                              Sonya
                              --- In familiesofangelmansyndrome@yahoogroups.com, "andreabi63"
                              <andreabi63@...> wrote:
                              >
                              > hi everyone,
                              > I'm Andrea and I have a son 20 months old who has angelman syndrome
                              > I'm Italian and my english is not very good.
                              > by Andrea
                              >
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