Ruby Valentine

We have had a genetesist appointment scheduled since we got out of the hospital that we went to about a week ago.  They schedule out 2-3 months in advance. It was by far the most in depth appt. we had because I had to get copies of pictures of our little family, us as babies and pictures of our parents for their file and fill out a family history questionnaire.  The meeting was a joke.  The genetesist answered her cell phone twice in the appt. that we waited an hour for in the waiting room.  She had nothing to say, except that she wasn't for sure on any diagnosis and would have to do more research. Then I handed her all of the pictures I brought and she kept commenting on how cute our family was and how sweet it was to bring in family pictures.  Then she handed them back to me and said, "thanks so much, it's fun to see your family."  What?  So basically the appt. was pointless, and she said if you don't hear anything from me by August feel free to email me.  Ya, no thanks.   I wasn't convinced I wanted to go to a genetesist anyway and put a label on Ruby.  I know a lot of people say it will be good for the future and going forward, knowing what to expect...but I don't know that I care right now.  It's not changing what we are doing for her.

There has been the question of Opitz g/bbb syndrome, but nothing conclusive.  It would be a very rare case because it is primarily in males because it is linked to the X chromosome.  She doesn't fit all of the profile and there was a basic chromosome test done in the hospital that came back without any abnormalities.  I am fine without having anything to pin this to.