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Re: [Families of Angelman Syndrome] Re: New suspect AS, how to get diagnosis

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  • 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 1 of 10 , Oct 22, 2007
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      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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