Yesterday we got the results from the SAMHD1 deletion testing that was done in Denver after our trip last April to see Dr. Vanderver. It was normal. So, two different tests looking for deletions have now come back normal, specialists in AGS aren't convinced AGS is what is causing our children's regression...the questions continue. Could it really be that Bryce and Annalise are just carriers of this rare disorder and their symptoms are coming from something else? It just seems so unlikely, but who knows. Well, I know someone who knows, but for some reason, He just isn't telling right now so we will have to wait a little longer! It is just so hard not knowing...not knowing what to research, what to look for, what to plan for, etc. I'm really beginning to wonder if we will ever know.
Once I heard the results, I emailed Dr. Narayanan and let him know. He said that he is still waiting on results of the genome sequencing and will let us know as soon as he hears anything. He also asked how Bryce and Annalise are doing. Overall, they are doing pretty well. Bryce has been having some issues with croup and his breathing, but nothing too serious (meaning we haven't ended up in the hospital) for now. We are hoping to keep it that way!
Annalise continues to heal. She finally slept through the night last night without pain medicine! That is a huge step in my book! She still asks me to take her boots off, but she is learning how to get what she needs/wants without the ability to move around. She is a trouper! Her eating, or lack of, and her speech have us pretty concerned at this point. It is just so strange, it is like she has almost no appetite at all. She will eat some, but only when we distract her with something else and we feed her. It will take up to 45 minutes sometimes to get a small amount of food into her. She is still drinking okay, but is not getting nearly enough liquid into her. It's kind of scary.
She has also become much more difficult to understand. She still talks up a storm, but more and more she is slurring her words and we are all finding it hard to understand a lot of what she says. It is the worst when she is tired. She gets really frustrated when we can't understand. She has begun using signs a lot more lately. I need to get back into teaching/learning more of those so that she can get her message across a little easier. I'm still hoping and praying that the medication she was on after her surgery is to blame for some of this change and that she will gain it back soon.
Oct. 30th will be a great day! That is the day Annalise's boots will come off. We are all looking forward to that day!