Monday, June 1, 2009

So my kid has Rhombencephalosynapsis...

And what in the hell do you do with information like this???

Her diagnosis is one in billions. In the most conclusive study on her diagnosis only 9 subjects participated, it was not longitudinal and one of the subjects dropped out. As of 2002 only 40 cases of this anomaly had been diagnosed conclusively with MRI. So we have no idea what the future holds for her. We have no idea what caused this. We have no idea whether or not we could have another child with this (and mind you Abby has milder symptoms than most). It's scary. It's frustrating. But it's at least somewhat of an answer.

Pretty soon I will be putting together a laundry list of her symptoms, issues and "special features". Keep an eye out. :D

1 comment:

  1. Hi there, My name is Jon, I have a 7yr. old son with RS.,I have been reading diffrent posts on RS. and have found none with older children,so I too am learning as I go. My sons condition is not the extreme tho, he had hard times meeting milestones in crawling,eating,and also had the g-tube at 4 mos. The thing that really caught my attention is the arm flapping,and a few other things you mentioned...now I also have an 11 yr. old son who has Fragile-X syndrome, I'm no doctor by any means just a parent,but I couldn't help but see the similarities between your daughter and my son... and because I have two sons from the same mother,jus thought I would bring this up,if there is a possibility that she also has Fragile-X along with RS.,then it would be a tremendous help for you in understanding your daughter even more ..(and honestly could aleveiate alot of frustration)..Knowing what more you can do to help her. I wish your daughter the best of health,and remeber we are given these children because the Lord knows we have the strength and love to see they have a happy healthy life ! ;)

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