Tuesday, March 13, 2012

Bad blogger .... bad blogger!

I just typed an entire long update and then my computer ate it. :( The short version is that Emily is home right now on IV antibiotics for a urinary infection. We should know later today whether we can continue to keep her home and treat the infection or if we will end up inpatient. It depends on some final labwork. Emily had a sleep study last week, to figure out the cause of her desaturating during sleep. I know she did it during the study because they had to keep calling the pulmonologist to ask what to do. We started out on room air, and then had to keep going up and up on the oxygen until she hit 2.5 liters. So hopefully the results will be in soon and we will know what to do next with our girl during sleep. Emily had a (second) muscle biopsy done a few months back, looking for a mitochondrial diagnosis. Unfortunately there was a lab error and the sample never got to Baylor University. We have come preliminary results which are pointing towards a COX10 Deficiency. This diagnosis fits Emily's symptoms, unfortunately there is no treatment or cure. Because the sample cannot be formally tested any further, we are drawing labs on Thursday for a whole exome study. They will draw blood from Emily as well as her Dad and I. Hopefully this will (FINALLY!) lead to a diagnosis for Emily. That's about all that's going on right now! We take this all day by day, and today's goal is to get good news from the lab and be able to stay home with our girl. We don't want another admit, again! We just had a week long admit for a central line replacement, because her line came out. We would love a long, long stay at home now. :)


The VW's said...

Hope the lab results show that you can treat this at home! You guys deserve a LOOONNNGGGG break from the hospital! Love and Big Hugs!!!

Alison said...

I hope you guys get to stay at home - you have spent far too much time in hospital lately!

Zoey's mom, Heather said...

Well, I think you have been a tad bit busy to keep up the blogging thing. anyway, you keep some of us so up yo date via FB.

We continue to think of you and send you love and prayers and, certainly hope that home will be the place you will be hanging out for good.