Thanks everyone for your responses! i really appreciate it.

In answer to your questions we have started physical therapy. we actually have been having therapy since she was born so at least we were helping/treating her even though we didn't have an actual diagnosis. basically just treating her contractures (stiff arms and legs) and building up strength - plus she had a dislocated hip and had a hip spica cast and then a brace for 10 months.

we have being seeing a genetitist (sp?). we will see him again at the end of feb when we see the neuro again. hopefully we will find out the results of the genetic testing on the skin then...

and yes she is a gorgeous happy girl!!! she is very clever and constantly amazes us with her speaking etc. plus she is very friendly - she talks to every one at the shops!!!!