Thursday, December 13, 2007

Partial Results

Thanks for all of the suggestions for trying to clear up Mira's rash. We have taken several steps over the past week and it has cleared up significantly. As I posted earlier, we have tried multiple ointments and antibiotics, using a pretty potent anti-fungal/antibiotic cream on it over the months, which has helped a little. What has really helped though, is keeping her face dry. We change out her sheets every night, using a fresh towel as an 'added layer of protection' over the bed sheet. (Yes, I am beginning to sound like a bad diaper commercial.) We also started lathering her hands up with lotion, which not only helps her hands heal, but keeps her from sticking her hands in her mouth every 20 seconds. I don't think she likes the taste all that much after a while.

Mira's genetic screen for Rett Syndrome (the MECP2 typical variant) came back clean, meaning she didn't have any mutations on the MECP2 gene. A mutation occurs in about 85% of the typical cases of the MECP2 screening process. What they are now searching for are MECP2 deletion(s) on this gene. I don't quite understand how the process of recognizing a mutation versus a deletion occurs or why they have to be performed separately. I guess that's why I'm an architect and not a geneticist. We should get the results back on the deletions in another 2 weeks.

Thanks to Dad and Dottie for the Christmas flowers - they are wonderful! Eli has been eyeing the candy canes all day too..............

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