The little man of the house has been holding his own lately. We have been trying so desperately to keep him well for our upcoming trip to Kentucky. This trip is tough on him to begin with, so we are hoping to start on a good note.
We have recently added a new med to his daily mix...L-Arginine. Over the past 8 months or so, Nate has been struggling with high ammonia levels that make him feel horrible. Shortly after he turned 2, we started noticing a dramatic difference in his personality and behavior. Some days he would be our sweet little Nafey boy, and other days he would be a rude and cantakerous little monster. I figured that the terrible twos were just extra hard on him.
However, this past spring he also started sleeping so much more and just laying around when he was awake. He would go through times where he just had no energy and preferred to lay down and watch everyone play around him. It was so difficult to see him like this. We knew something wasn't right, but mito is an energy deficient disease...and when you aren't quite sure what is causing certain symptoms, you just chalk it all up to mito. But I knew it was something more...something had definitely changed.
Around this same time, his stool started to take on a noxious chemical odor. I had to bleach the bathroom several times just to get rid of the lingering fumes that the little guy was expelling. At times, it smelled like someone had knocked over a bottle of cleaning fluid somewhere. It was (and still is at times) absolutely noxious. Our docs here had no idea what it could be but said it was definitely "something metabolic". Dr. K in Houston said that it was definitely ammonia. His blood test showed that his ammonia level was quite elevated once again (it has been mild to moderately high in his labs for 6 months), and she started him on L-Arginine.
Ammonia forms when protein is broken down in the gut. The liver then turns the ammonia into urea to be excreted in urine. Unfortunately for Nathan, sometime over the past year (I'm suspecting after he was so sick last winter...before that illness, his ammonia levels were usually under 20) his liver stopped being able to adequately turn the ammonia into urea. High ammonia levels in the body are toxic, especially to the central nervous system. I have to be honest in saying that this bit of info makes me nervous...Nathan has always been so bright, and one of my greatest fears with this disease is that his mind and brain will suffer at some point. Thankfully, the arginine (which binds and removes ammonia from the body) seems to be working well for Nate.
He also had a good GI appt today...his weight is holding steady at 25 pounds since his appetite has wavered lately. But he's a short little guy at the same time, so he's totally proportionate. The nurses at the clinic gave him a sweet little gift today...he named it "Sweetie Pie". They are all so good to him and make his visits quite enjoyable. This little guy sure is spoiled!