Thursday, April 14, 2011


Highlights from today's genetics appointment:

*  Since the extensive genetic testing we had didn't find anything that clued them in as to what caused Abby to have CCMS, we're looking at next steps.  The interesting thing is that the other children with this syndrome have all had a diagnosis that caused the CCMS--they were varying diagnoses, but they all had something that caused it.  With Abby, they can't find anything else.  We may possibly be joining the study for CCMS at Boston Children's so that they can learn more about what causes this.  We are working on scheduling a phone meeting with the head of the study to hear about the details.  Because we don't want to subject Abby to any more pain than she already will be forced to have, we want to get all of the details before signing the consent forms. 

*  Our geneticist, who always had hope for Abby, was really pleased with how much she's grown and developed.  Yay!!

*  We got to visit a few NICU friends today.  You know you were in the NICU too long when you nearly get plowed down by a receptionist so excited to see you!  (Love it!!)  :)  I missed a few of our favorite nurses, but it was good to see some of the staff anyway.  Plus, they all ooohed and ahhhed over Abby quite well.  :)

*I have decided that it is SO much easier to drive to UMMC than JHH.  That is in no way a reason that we should go to UMMC, but perhaps JHH should make their parking system a little less confusing.  I'm sure they'll get right on it now.  :)

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