I've hesitated to post all week. This has been an especially emotional week our family. Old fears and feelings have resurfaced and 'Angelman Syndrome' was brought back up by our geneticist on Friday, November 7, 2008 at our 6 month checkup.
Although Sadie doesn't have a deletion or duplication of the 15q chromosome, she does have extra X material on the end of her 8p23.3 deletion. 15q is a marker for Angelman Syndrome, Retts Syndrome, and Prader-Willi Syndrome. http://www.angelman.org/stay-informed/facts-about-angelman-syndrome/; http://www.rettsyndrome.org/index.php?option=com_content&task=view&id=16&Itemid=375; http://www.pwsausa.org/faq.htm
Now, nearly two years after Sadie's diagnosis at her six month checkup, Angelman Syndrome or a Variant of Retts Syndrome is suspected because the extra X material might be 'talking' to the 15q and therefore severely hindering Sadie's development. http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1734853&blobtype=pdf
We suspected Angelman Syndrome two years ago, but it was 80% ruled out by the blood test. We were told then by our Doctor that there were a couple of other tests that would get us closer to being 94% sure, but that we would have to "wait and see how Sadie progresses." She wanted to she if Sadie's development would progress, but if it didn't then more tests would be prescribed. She clinically shows characteristics of Angelman Syndrome, but it has not been molecularly confirmed.
Sadie is having another EEG done at the Children's Hospital Wednesday, November 26 at 9:30am to see if she is having absence seizures...http://www.epilepsy.com/EPILEPSY/seizure_absence. She is also having another hearing test December 10.
So, again we will be forced to change our way of thinking as we try to figure this all out. We know we talk about Sadie a lot to family, but for our friends, some we are quiet and some we are outspoken. We know everyone has a busy life, which is why I'm writing all this down. I know it is complicated to understand, but we appreciate you reading our blog about Sadie. I added links to add to the understanding of it all. We are hopeful and positive in a realistic way. Thank you!
I forgot to mention, that it was recommended that we put her on Periactin to stimulate her appetite.
