Results

I got a message from the neurologist's office on Thursday that they wanted to talk to me about the lab work we had done. When I called back, the physician's assistant who had called me was unavailable, so they checked Samantha's chart and said that no results were in. I was of course a wreck and so I called the geneticist. I began explaining that I was looking for lab results and had been rescheduled and without anymore information they knew who I was and transferred me to a geneticist. She answered, "Are you calling about Samantha?" This all made it pretty obvious that we were the buzz around their office. She said she had results, but that we could talk about them Tuesday because it's easier to explain things in person, but I couldn't wait and pushed for more information. It turns out they didn't actually do DNA testing yet; they tested Samantha's blood for creatine in the plasma and her urine for an enzyme that would normally not be there because it is broken down into creatine. Well, Samantha had low levels of creatine in her plasma and high levels of the amino acid in her urine. All of this means that she most likely has "GAMT defficiency". They will do DNA testing now (the insurance wouldn't pay for it until the geneticist had basically proven ahead of time that Sam has what they think she has). Evidently this geneticist that we will be meeting with is amazing and the geneticist I spoke to said he is never wrong and if the results we had so far weren't as definite as they are he would probably pursue other causes of her creatine defficiency.
So, now we have a diagnosis. I won't go into all the facts I've read about this, because I am prepared for all of that to change on Tuesday. Every case study I have read about this disorder is so different that there is no definite prognosis. I will say though that Samantha is MUCH better off than a lot of the kids I've read about, so I still have high hopes. We will begin supplementing creatine and ornithine on Tuesday and we will meet with a nutritionist and begin this diet. The hospital has one other child with this disorder. He is a three year old and has been doing very well. I am hoping to talk to his mom soon.
I can't help but think that all the cooky things we've tried with Samantha (including extreme diets) have helped prepare us to feel a lot less overwhelmed at the work we have ahead of us. And I feel like working with NACD has prepared us to know how to plow forward once we get Samantha's brain healthy and ready. Most of all I think we've learned a lesson in grattitude and patience- lessons I know I sorely needed. :)