DNA results

We got a call yesterday that the DNA tests are complete and that Samantha definitely has GAMT . One of the mutations is a known mutation, but the other is a new mutation that has never been identified before. Trey is hoping he has the new mutation (haha). The genetic counselor mentioned having Trey and I have our DNA tested as well so maybe we will found out who has which mutation. Regardless, things are official.
Samantha has yet to say "Mom, let's go to Disneyland" but she seems to be blossoming each day in different ways. That is, each day that she hasn't been sick. It seems like when she has been sick she has been crabbier than I have ever seen her. She is getting quite the attitude which I think is probably a good sign of independent thinking. Instead of going in the back yard and disappearing to play on the side of the house with non-toy items, she is swinging on her own, following Ellie into the playhouse, sliding etc. She is watching other children intently as they play at our house and just seems to be soaking in a lot more in general. Today we were outside and Ellie said, "Look mom, birdies" and Samantha 1-turned and looked at the birds, 2-pointed and 3-said "bu". Each of these is a developmental achievement and the combining of all three is totally cool to see her doing.
We went to see the pediatrician last week and I told him about the diagnosis and he was really surprised. He said "that is really unheard of that the neurologist would order an MRI for a five year old with seizures, especially the spectroscopy. Usually if there is a metabolic cause, seizures would have shown up in the first year or so." He also said, "Wow. We never get answers. I am getting chills. I can't believe this." All of that just confirmed in my mind that Sam's neurologist was inspired. If he had just sent us home with a prescription and a follow up in six months we would have no clue and I hate to think of what road we would be on now. I need to think of the perfect gift for that doctor to say "you changed my life. you rock".
The diet is pretty easy now and with the discovery of the flavor-concealing abilities of the "super juice" from Trey's work, I can now get Samantha to gulp down her creatine. She gags when I try to give her the medical food so we've yet to conquer that, but all things in time...
We had an evaluation yesterday with Bob, the founder of NACD and here are the cliff notes. Bob reaffirmed our belief that Samantha will talk. He told us that he sees kids her age begin talking all the time and that his own step son couldn't follow single step directions until he was seven and didn't speak his first words until he was nine and is now speaking in full sentences. I expressed how frustrating it is that every teacher and speech pathologist wants to say "let's teach her signing or use picture cards for communication" and he said "well, it is a lot easier to teach a child that they can't talk". I totally agree.
He also confirmed that this is a whole new chapter for Samantha and that we should be full of high hopes for her. He recommends that we try sending her to kindergarten and if it doesn't turn out to be a positive experience for her, we pull her out. The big change regarding program that he recomends is involving Ellie in program as a constant role model for Samantha. I had the epiphany as we were talking about the struggles of getting program done that I need to schedule my day to do program with all the kids during set times and forget about the program checklist.
In the adult work environment, checklists were very motivational to me and gave me a sense of accomplishment and direction, but working with Samantha is 100% different. There is no immediate pay off and things take days, months or years to really check off. So, I am going to focus on keeping a positive and healthy atmosphere with program sprinkled in.
Don't misunderstand all my lofty goals and ideals... I stress out, freak out, and tire out all the time. I am not a perfect parent. I think parenting any child is a learning experience and noone's born knowing how to do it just right. So, good luck to us all ;)

Nutritionist Follow Up

The first week of low protein dieting taught me that twenty grams of protein is a very small amount compared to what most people (even five year olds) eat, unless they are vegan and then it's very difficult to hit twenty. So, based on the nutritionist's instructions we are now mixing in a little dairy to get up to the twenty mark a little easier. The tiniest little slice of cheese (measured to the tenth of a gram) is four grams of protein. A Kraft single is three. So, we have found a happy medium for now. The inner science geek in me is still struggling with the knowledge that the arginine in animal sources is higher than, say rice, but I just can't shove enough low-arginine food into her to get her up to twenty grams. There is a medical grade "food" which I believe is another powder to mix into a sugary/yummy drink that has a lot of protein, fat and calories but none of the protein is from arginine and the nutritionist is sending us samples to see if Samantha will take it. If she does, there will be less of a balancing act to avoid arginine, but consume enough protein. I secretly want to start a website and figure all this out, including meal plans, recipes, etc., so that the next family diagnosed with this will have a resource to start with. There is literally NO support group for this.
Anyways, we are adjusting and finding ways that she can actually eat like a pretty normal kid. McDonald's is a cheeseburger minus the burger (5 grams), twenty fries (2 grams) and a yogurt parfait (her absolute favorite food in the world- 4 grams). And it's actually nice to get 11 grams "under her belt" by going there.
The geneticist came in to the meeting this week and mentioned that it will take a whole month to get the guanidino acetate levels down to about 50% which is the level at which her brain will be able to start really firing up and making better progress (the creatine should already be a lot higher), so I have that in the back of my head, giving me patience for now.
Despite the fact that she's not "fired up" yet, we have seen some real improvements since starting the diet and supplementing. On Saturday, day two of supplements and four of dieting, she had a seizure in the morning and we haven't seen one since (over one week ago). I am really happily surprised. She had done a little better on the seizure meds, but was still having a dozen or so a day and they just suddenly stopped. The second really definite change is that she had regressed a lot in her potty training for two weeks prior to the diet and that has pretty much completely resolved itself.
There are other little things that I'm less sure of (we've been through so many "experiments", constantly LOOKING for positive change, that now I'm a lot more reserved in my judgment), but those two things alone are very encouraging.