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. :)

Home again!

I'm sorry I haven't updated since the last post, which was quite a crisis time. She stabilized that night, and hasn't had another episode like that. Thank goodness! The metabolic geneticist came in the next day and talked to us in depth. He feels that the episodes were not true metabolic crisis but rather a reaction to pain. It makes a lot of sense, when we review it looking back. Her lactic acid was high, but that is expected when you are in pain or stress. This was the first time we had met the geneticist at this hospital, and he had a lot of good information for us.

He truly believes that Emily has some sort of maternally inherited mitochondrial disorder. I have reflux, migraines, fibromyalgia. Jacob has migraines and reflux. Emily has everything under the sun. We are waiting on authorization to do a mitochondrial gene array, and a whole exome study. He is also referring us to a different metabolic Dr, who is the leading mitochondrial specialist on the West Coast. His waiting list is about 12 months long, but hopefully he will get us in sooner when he sees how fast Emily has been going downhill.

GI wise, things are the same. She is on TPN for 22 hours a day. She retches a lot in the morning, but it's not too bad during the day. She manages to keep most meds down now. They started her on Rifaximin for bacterial overgrowth. It's a nasty, thick, orange medication. As long as we give it at a different time than her other meds, she usually keeps most of it down. As a side effect, her poop is bright orange colored which is interesting.

We go to GI clinic on Thursday, and then we are going out of town for four days. We are going to visit some friends we haven't seen in a while. It will be SO nice to get away for a bit! I can't wait. We have told Emily that she is NOT allowed to relapse, as we have vacation plans! :)