one-in-a-billion to impossible

It’s Mommy -standing in for your usual narrator Daddy-

I know it had been a day or two since we posted.  So first to catch you up to this morning.  On Friday we asked them to take her off the gentamicin antibiotic that she had been receiving due to potential serious side effects to children with mitochondrial disorders.  However on Saturday night she ran a low grade fever (that went away on it’s own) so they put her on cipro and vancomycin.  They also took cultures and they should be final tomorrow.  So far they have been negative and if they are tomorrow they will take her back off those antibiotics.  On a related note after they took her off the gentamicin her blood pressure has returned to normal-ish.  so yea!  She has seemed perkier and been sillier over the past few day off and on.  She is still trying to recover nutritionally but acts healthier.  They are continuing to up her Elecare feeds and continuing TPN to get her where she need to be. 

Now on to the title sequence:  Today we had our “care conference”.  This is a meeting set up between all the doctors and specialists on a case and the parents (apparently it doesn’t happen very often) .  They told us a little about they were following up on and we got to ask them some of our questions and actually get the different specialists talk with each other.    We know they are still working on getting her nutrition better.  They were hoping that the gut would heal some more on its own, but they have decided to go ahead with some steroids probably tomorrow.  It needs to heal for her to get better nutrition and she needs better nutrition to get it to heal.

The geneticist is following up on a whole slew of tests and is VERY interested in further in-depth test of Adela’s karyotype as she calls it the chances of that karyotype are one-in-a-billion to imposssible. (sounds like Adela to me) She also said that Adela would most likely be presented at the big genetics conference and supposedly UNC is receiving a grant for genome sequencing  within a year or two and she is consider Adela for one of the test subject positions –  which would be a huge deal –  this is cutting edge – ten’s of thousands of dollars of research — and would give them a lot of information of what is going on (long-term) and what she is likely to have problems with.

I’m know I’ve forgotten a bunch, but that will do for now.