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NOT SURE...

 
Post new topic   Reply to topic    Angelman Syndrome Forum Index -> Just had a DX for Angelman Syndrome or not Sure?
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ihav3angels



Joined: 28 Sep 2010
Posts: 2
Location: oologah, ok

PostPosted: Tue Sep 28, 2010 2:27 pm    Post subject: NOT SURE... Reply with quote

Sti;l doing tons of research,but, keep coming back to AS. Here is our story.
Brooke was born at 36 weeks with no issues,but soon after birth she developed major feeding issues and became failure to thrive,12 pounds at 6 m and this was 2 months after she had surgery to save her life, they did a fundoplication and placed a feeding tube. After that she slowly started to rebound and gain weight,the we figured out she had a milk protien allergy and got things solved. At 5 months she had her first siezure,but, prior to that she had tremors and lots of jerky movements. Not sitting or rolling at 6 months and tortacollis at 3 m which she had PT for, continues PT and added OT at 6m, she has major sensory issues to textures and foods, as well as being scared to death of spacial movement (ie swings/spinning). She has a speach delay but with therapy she is doing great and is very verbal but dosent always understand. If we have to miss therapy PT/OT/speech then she will backslide. She has gross motor developmental delay and fine motor that isnt as extreme, she has a hard time expressing herself and can be hard to deal with at times, She is very happy most of the time. Blond hair blue eyes. We have been "potty training" for 9 months now with no results when it comes to pooping in the potty,but peeing is all good. She is on 25mg of Lamictal that helps her "tremors" but she does still have them often. Every CT/MRI and EEg have been normal. there is some slight mylian sheeth changes but the neuro has said he dosent think it is releavant. She has L sided weakness, and at 3 1/2 (4 in Jan) she isnt able to run like most kids her age.
We have been trying to figure her out 3 years and still no answers, we are missing something a piece of the puzzle... my next step is to have DNA profile ran i guess? Really not sure where to go next.
Thanks for reading this LONG post, any advice would be great.
Thanks so much
Rachelle Laughing
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DJ Manuel
250+ Posts = Diamond


Joined: 08 Dec 2007
Posts: 402
Location: Prundale, California

PostPosted: Wed Sep 29, 2010 2:46 pm    Post subject: Reply with quote

Hi and Welcome,

At this point I would suggest you see a genetist vs a nuero since they can't find any brain damage. They would be better at helping here....

hugs,

Dalia
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Mom to Jose Manuel 7/26/06 Del +
Maria Esther 1/08/98
Omero 1/08/95
David 7/31/09
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