Rebecca,

thank you very much for sharing your experience, in the end it might possibly turn out to be very similar to ours.

As you say, it’s not much about giving names to things, when we heard
"unknown genetic anomaly" we started worrying about unpredictable side effects and all the worse things one may imagine in those moments. Now we are obviously concentrating on the symptoms and trying to find the best treatment for her.

I often read that cah shows very differently in every child, and am realizing now that the spectrum of variability can be *really* wide.

thank you again Rebecca, all the best to your family

robert