I brought Madison into Scottish Rite Children's ER on Thursday. She was stumbling around, not able to form sentences, throwing up, and just crying. The genetics nurse that I talk to that morning told me to bring her in immediately. They were worried about her blood ammonia level.
When you arrive at Scottish Rite, and mention possible genetic disorder and complications,they rush you right back. I had to explain to them what was going on, what urea cycle disorder was, what tests the genetics team wanted to run and all that good stuff. They tested her blood ammonia level - which came back at 263. It is supposed to be between 22 and 48. The chief genetics doctor was consulted and we were transferred to Emory Medical only 2 hours after arriving to ER. They started her on I.V. fluids which would help bring down the ammonia levels.
At Emory they gave her more I.V. fluids, did lots more blood work, asked Madison a LOT of questions about "Who are you? Do you know where you are? What grade are you in? How many brothers and sisters do you have? and many more to see where she was at mentally. The high blood ammonia level was making Madison delirious. She wasn't able to answer some basic questions and kept talking to imaginary friends (which she doesn't normally do). Yesterday she had trouble sitting up or standing. She couldn't even squeeze the doctor's hands. The high ammonia level affects your brain in many ways, causing temporary delirium and loss of fine and gross motor skills. Needless to say, yesterday and last night was scary for me to watch her go through that.
About 1 a.m. this morning, she was finally hungry and was able to hold a short conversation. After a couple of doses of the ammonia scavenger medicine that give her, her ammonia level was at 83 at 3:30 this morning. She is on a strict diet - no proteins (milk and eggs included for now) until we find out what triggers her body to do this.
This morning she was able to answer all the doctors "who are you?" tests and most motor skills tests. She has some color back to her and was eating.
Mike is staying with her today and through the night. She is doing much better and is able to concentrate to watch movies and hold conversations. She will be at the hospital for a couple more days (I am not sure what that means) to:
- monitor her ammonia levels
- do an EKG - they also detected a heart murmur yesterday
- monitor her cognitive skills - there is a possibility that she may not return to normal mental capabilities
I know she is in good hands. The doctors at Emory are excellent and they have the genetics team to consult with on a regular basis. They also have the medicine that she needs and will be able to do the DNA testing while she is in the hospital.
I will post more later. I am exhausted and going to bed.
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