Geneticist Appointment

Well, we met with four adults in a tiny little exam room today for about two and a half hours. We started with a 101 course on GAMT Deficiency explaining why there's a problem and where supplementing creatine and ornithine and restricting arginine come into play.
We also talked about her diagnosis and that it's basically 100% firm, but they would still like to do a DNA test just to have the information. If any other family members suspect they are at risk or just want to know if they are carriers they could have a much more affordable test ($200-300) because the search of where to look and what to look for would be greatly narrowed down after Samantha's lengthier test ($1500). An example of who may want to know one day is Ellie when she is ready to have children.
The geneticist was an awesome Italian with a super thick accent in his 50's? and he had great things to say about Samantha. He mentioned that when we come back in four months to follow up with him, she should be talking more and doing much better. He referred to her as a "mild" case and was pretty impressed with how well she has developed inspite of the condition.
The nutritionist joined the group towards the end and felt like we were being bombarded with too much information and wouldn't be able to tackle the diet right away. She gave me some basic information (while Trey walked the halls with Samantha for ten minutes) and is going to meet with us next week to get us officially started. Samantha can have 20 grams of protein per day (that number will go up over the years as her weight goes up). I think that if she cuts out all meat and dairy that we can do this without too much difficulty (not that cutting out yogurt, milk, cheese, nuggets, etc isn't difficult!). For example: a glass of cow's milk has 8 grams of protein, but a glass of rice milk has 1 gram. So, having the right foods on hand will be key. The food group with the lowest amount of protein is fruit and luckily she loves fruit. The foods she can have with no limit are "pure fats and sugars" (yum yum!), straight sugar candy, kool aid, popsicles, etc. I'm not sure what "pure fats" are, but I think we'll stick with sugars.
We will have to petition the insurance company to help pay for her creatine and ornithine, but I went ahead and placed a mail order call on our way home to get a kilo of both headed our way. She will be on both of these for the rest of her life and she will be watching her protein intake for the rest of her life. The severity of the diet in the long run will depend on her body and how she responds to the current guidelines. She may regulate to where she can have a higher amount of protein, but will probably never be able to eat totally "carnivore" again.
I hunted down a "scientific grade" scale for measuring out her meds each day and am excited to get started in 2-3 days when the supplements arrive. We will be tracking her food for three days and shooting for about 30 grams of protein per day this week.
Ironically I received an acceptance email today for Samantha to attend a local charter school for Kindergarten in the fall. I'm not sure that she'll be up for that, but it is cool to know it's an option.
I feel like I'm in a little dream right now. I am overwhelmed and ecstatic all at once. I definitely feel like I need to pinch myself every five minutes.