Sunday, April 29, 2012
Chat with Geneticist
I talked with Addison's genetic counselor at Children's Hospital of Michigan and she is still concerned for Mowat-Wilson Syndrome, so we are going to have the testing done for that next. I'm still wondering about Rett syndrome and the possibility of clinical diagnosis despite the genetic tests being normal. She said whole genome sequencing may be our next step in the coming months, that we shouldn't pin all our hope on it because its not often it gives results, but she said it may be something that Addison could benefit from. We are going to see them in about 8 weeks when the Mowat-Wilson testing is back and kind of regroup and figure out what is next.
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Good luck with finding out some answers. I have had 2 students in the past with this condition ( siblings). They had very distinct facial features, they were 7 and 9 when I had them so maybe it was not as prominent when they were babies. Addison's facial features are not like them. I only had them for 4 months as they moved but if you have any questions about cognitive and speech issues, I can share! They were very well behaved and very sweet.
ReplyDeleteOkay, clarification, the ones I was thinking about did not have that syndrome! But I did have another student and that little boy did have very distinct facial features too but unfortunately I do not remember a lot of details, he could understand a lot of what was said to him but had no speech.
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