Jake and Manny's test results both came back normal. This means that they have normal genetic structure, with no deleted or duplicated chromasomes. That, of course, rules out Phelan-McDermid syndrome. It does not rule out NF1 and the diagnosis for that still stands for Manny.
Should Dr. Reisner (neurosurgeon) decide that he wants a gene test for Manny for NF1, for instance if it would affect the management of his case, then she said she can certainly do that, but for now we are relying on a clinical diagnosis. I will talk to Dr. Reisner about that Tuesday.
So for now we are attributing Manny's global delays to NF1, since some children do have severe delays, its just less common. I guess somebody has to be on the "most severe" end of the spectrum. Sigh.
She wants to see Manny yearly, suggests eye exams for eye tumors every 6 months since most children with NF1 who get eye tumors get them around this age. Hmm.. thats about all I can remember at this point.
I am very pleased with the fact that the results were normal. It still leaves a lot of questions unanswered, but at this point, that is OK.
Manny has his hearing test at 10 AM in the morning.
