Re: [Families of Angelman Syndrome] Re: New suspect AS, how to get diagnosis
- 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.
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 :)
At 04:10 PM 10/21/2007, you wrote:
>Hi Donna you said you sometimes can tell by looking at pics if they[Non-text portions of this message have been removed]
>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.
> > Sonya,
> > Hello. My name is Donna and my son is Joshua. He is now 4 years
> > had never heard of AS. We went through all the testing as well.
> > tested for everything...well, almost everything. I guess the more
> > common one's such as CP, MS, MD, CF. They even tested for Prader-
> > Syndrome locally. Finally, right before Josh's 2nd birthday we had
> > visit @ Cardinal Glennon in St. Louis. They suspected Prader-Willi
> > Syndrome. The neurologist, to this day, says she was surprised by
> > outcome of Angelman Syndrome. We still have more testing. So, far
> > Methalyation (sp?) testing was done. From what I understand they
> > 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
> > apologize if I may be confusing you. The genetics of AS really
> > I want to add that had we not been to St. Louis I don't think I
> > have a diagnosis to this day. We went through two years of hell.
> > Testing, blood work and insulting doctor's. Thank the Lord we
> > found doctor's who would weigh every option and not look at me
> > was a careless idiot when they found out he was on Medicaid and
> > was a single mom. Seriously. Ok, rant over.
> > The diagnosis has great impact. If you have a diagnosis then you
> > 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
> > at first. This was because Josh had been so ill and I was worried
> > he would be diagnosed with some rare condition that altered his
> > 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.
> > 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
> > 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
> > 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
> "Sonya O'Brien"
> > <frogfoot1969@> wrote:
> > >
> > > Hello, I will try to make this short. My ds is 3, we have an
> > > 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
> > > I came across the Angelman Syndrome foundation and my ds fits
> > > feature except four. I know that having a diagnosis will not
> > > anything but it will put my mind at ease that I will finally
> > > answer and can stop worry that it is a progressive disorder. My
> > > has had numerous genetic testing done but angelmans in not one
> > > them. I hate to put him through more blood tests if nothing is
> > > to change. Can anyone let me know if getting the diagnosis
> > > 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
> > > with CP, which my son clearly does not fit, His Autism is very
> > > functioning but it is severe enough to agree with the Autism
> > > diagnosis. He is extremely cheerful, happy and outgoing. His
> > > is the best thing in the universe!!!!!
> > >
> > > Thanks for any advice.
> > >
> > > Sonya
> > >
Do You Yahoo!?
Tired of spam? Yahoo! Mail has the best spam protection around
[Non-text portions of this message have been removed]