Aggies genetics Dr. called to inform us one of her labs had a positive result. Pyruvate dehaydrogenase. Which is a mutation in a gene that affects making and breaking down glucose. It is on the X chromosome, and since girls have 2 X chromosome they often present with milder cases, if Aggie was male, she would probably be dead by now b/c males only have one X, so if all their X's are affected, they have more sever problems. The mutation seen on Aggies gene has not been seen in that exact location before. They are sending us paper work so her, mike and i can all have further labs drawn to confirm an exact diagnosis, or deny something? We will do that next week, as the one for Aggie had to be scheduled to be mailed. The treatment for this is a ketogenic diet, which we won't start until the next round of labs confirm it is what we need to do.
Here are wikapedia links if that is helpful.
I've been way behind on blog happenings, but it's good to catch up. I am sure life is a whirlwind for you guys right now, with job news, Aggie news and Salem due any day.
ReplyDeleteThanks for the updates! We love you guys!