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Re: [Families of Angelman Syndrome] Digest Number 14

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  • Stacey Vogele
    Hi Thanks for your note. I m sure we have a ton of stuff in common. Our Tana had her Nissen (Stomach wrap) at 9 mos for failure to thrive and reflux. She was
    Message 1 of 1 , Feb 19, 2003

      Thanks for your note. I'm sure we have a ton of stuff in common. Our Tana
      had her Nissen (Stomach wrap) at 9 mos for failure to thrive and reflux.
      She was the "queen of pukers," according to the docs. She had the G-tube
      at the same time. She developed post op infections at the surgical
      incision, reacted to the stitches. Her nissen was redone about 3 months
      later to a half wrap because she couldn't get anything down. We live in St.
      Paul, MInnesota. I'd love very much to meet other Angel families. We are
      about to travel down to Mayo for further testing in another month-6 weeks.

      I'm so sorry to hear about your little girl. Why isn't your insurance
      paying for the formula? Are you on a specialized one for her, or could you
      get one that requires prescription and then they would have to cover it?
      Our little one will never eat again. Since the nissen was too tight, she
      won't allow more than a drop of water in her mouth. We tried everything,
      sweets, salt, pudding, popcicles, ice cream, watery baby cereal. She just
      doesn't want to eat and hates it. Thus I've resigned myself to g-tube life.
      She may go off of the keto diet in 3 more months bec. there is NO
      improvement! In fact, seizures are continuing to increase! That really
      stinks! We are running out of seizure options. We have tried every seizure
      med out there (except vigabatrin (SP?).

      Thanks for your note.

      ----- Original Message -----
      From: <familiesofangelmansyndrome@yahoogroups.com>
      To: <familiesofangelmansyndrome@yahoogroups.com>
      Sent: Wednesday, February 19, 2003 4:13 AM
      Subject: [Families of Angelman Syndrome] Digest Number 14

      > To unsubscribe from this group, send an email to:
      > familiesofangelmansyndrome-unsubscribe@yahoogroups.com
      > ------------------------------------------------------------------------
      > There are 2 messages in this issue.
      > Topics in this digest:
      > 1. Re: new member
      > From: "rocketwatts2003 <rocketwatts2003@...>"
      > 2. Re: New member - is genetic testing useful?
      > From: "rocketwatts2003 <rocketwatts2003@...>"
      > ________________________________________________________________________
      > ________________________________________________________________________
      > Message: 1
      > Date: Tue, 18 Feb 2003 19:32:17 -0000
      > From: "rocketwatts2003 <rocketwatts2003@...>"
      > Subject: Re: new member
      > 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
      > ________________________________________________________________________
      > ________________________________________________________________________
      > Message: 2
      > Date: Tue, 18 Feb 2003 19:39:05 -0000
      > From: "rocketwatts2003 <rocketwatts2003@...>"
      > Subject: Re: New member - is genetic testing useful?
      > A formal diagnosis has been a blessing for us. It helps us procure
      > services, allows us to get access to specific info and support
      > groups, has gotten us publicity that has helped pay for thereapy, and
      > has given us a mental handhold. I recommend getting as detailed a
      > genetic dx as possible. You never know: someday specific thereapies
      > might be available, and I imagine already having the dx could save
      > valuable time.
      > --- In familiesofangelmansyndrome@yahoogroups.com, "Dave Adams"
      > <adamsdp@c...> wrote:
      > > I am a new member with an autistic son. A local geneticist has
      > been
      > > recommending to parents with autistic kids that they be tested for
      > > mecp2 (Rett syndrome), 22q11.2, FISH studies of chromosone tips and
      > > mpcr studies of 15q (Angelman's syndrome). I have heard that he
      > > recommends these tests because the listed genetics defects have
      > been
      > > found in some autistic kids. We have an appointment soon and I am
      > > trying to prepare beforehand.
      > >
      > > I have searched the archives of autism lists at yahoogroups and
      > from
      > > what I could find, some of the gene defects listed above are not
      > > specific to any one disorder. Also, what the genes above are
      > > responsible for in the body is not known. I was wondering if the
      > > above testing will provide useful information in our case? Does
      > > knowing a person has one of the genetic defects above give
      > direction
      > > to therapies or anything else useful? Thanks.
      > >
      > > Dave
      > ________________________________________________________________________
      > ________________________________________________________________________
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