Addison's genetic testing came back yesterday for the most part, and while there is still not a clearcut diagnosis - the information we have learned is another HUGE piece of the puzzle and I believe we are getting very close to an answer.
Seeing as how I'm a mommy, and not a neurogeneticist, I don't understand the implications of what all these results mean, so I really cannot interpret them as they pertain to Miss A.
A special test called a Microarray found that her 1st Chromosome has a notable 'extra' little piece. They will test Adam and I for it next, the important thing is to see if this change occured only in her or if it is genetic. If Adam or I have it, we are healthy, so we know that its random and not the cause of her problems. Her chromosome 9 also has something called a variant, meaning a piece that is not the normal piece, but also isn't part of any known mutation.
Both of these things could be completely harmless modifications, in many cases its a genetic fluke that continues to be passed down. However, if the 'de novo' changes are hers only, they may be a clue to a rare problem that is found in one of those chromosome issues.
Some of her testing showed that her body is in a catabolic state. Ketonuria indicates that the person is in a catabolic state and is breaking down fat, and can occur in anyone who has a negative caloric balance. Except the one thing we know is that my sweet girl doesn't have a negative caloric balance!
This excerpt helped me understand what her body is doing...
"The catabolic state is characterized by destructive metabolism, resulting in a rapid loss of lean body mass and a change in body composition. The most distinctive clinical features of this response are tachycardia, tachypnea, loss of body weight, fat and skeletal muscle, as well as expansion of extracellular body fluid. The mobilized body fat and skeletal muscle proteins are used as fuel for the high energy expenditures during catabolism." (Wilmore 2000).
Our genetics team is fantastic and working hard today to figure out what our next steps are. I will share as soon as I know something, but thanks to your prayers, we are one step closer to chasing down our 'Zebra'. I hope you enjoy the new look of the blog, it made me smile when I was putting it together. I figured it was time for a change since she's going to be one in a couple days.
I have one more update, less medical junk and more pictures :) so watch for that.
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