Friday, July 15, 2011
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! :)