Bright Eyed, no bushy tail

Samantha is officially off her anti-seizure medicine and I'm so glad. Just one less variable. She has seemed more "bright eyed" and engaged since taking her off. We went to the zoo today and she was interested and pointing at many of the animals, unlike a year ago when she could have cared less.
She is making progress with program. She seems more interested and her attention span has increased a lot recently. Last week she sight-read five flash cards with 100% accuracy, however since then she hasn't been interested, but that day helped reassure me that what I am doing is getting through. Things feel like they are moving in the right direction all around.
Based on advice from my GAMT mommy friend, I found a place to do horseback riding with Samantha. The woman has a 34 year old horse who is extremely calm and gentle. We had our first visit this week and Samantha enjoyed feeding the horses carrots and petting and brushing the older horse. She started to lose interest so I didn't press her to ride him. It's fine if it takes a time or two to build up to it. The idea is that horses walk at a nice rhythm that is conducive to speech, along the same lines as music therapy.
Her grandparents were here the other day and Sam wanted my mom to read her a book. The books were in a room that was locked and she was whining and pointing at the door and I said "Sam, what do you want? Tell grandma 'book'." She said "boo" (so close!) and her grandpa looked shocked and said "wow! that was pretty neat!" I love watching Samantha surprise people. I think it's pretty easy to underestimate her.
Sam is now constantly practicing sounds throughout the day and when we are looking at flash cards her eyes are locked onto them and she is muttering the words (poorly pronounced like the book example) under her breath. I will say "Samantha, I can't hear you, talk louder!" and she'll look up and laugh and mumble the word again. All pretty cool.
I'm so blessed to have this little sweetie as my daughter. Some days can be tough and it's not always easy to see your own child teased or stared at, but somehow we are adjusting and that stuff doesn't bother me as much, as I am learning about what really does matter in life!

Duke GAMT study

I just heard back (via email) from a study at Duke University. They are hoping for a grant to study kids who are diagnosed on the autism spectrum for possible CDS (creatine deficiency syndromes). There are three types, GAMT so far is the least common. I shared Sam's story and they would like urine samples, but since that was pretty traumatic last time, it might be a while until we send in one of those.
Go Duke!!!

4/27/09 Update

Samantha had a program review last week and here are the positive changes I listed:
>started trying on my shoes
>crossed monkey bars at park with just a bit of coaching and my hands at her sides (wow!)
>running is getting smoother
>imitation of movements is better. Spontaneously started saying "bu" and making fists and trying to do "wheels on the bus" to request that I sing songs with her.
>loving hugs, tickles and raspberries as previously mentioned
>slight improvement in her ability to string together two oral directions (ie. touch the door, then turn around). She will usually just do the second command.
>started blowing into the flute in the bathtub much better than ever before (very important step in speech development!)
>better and better at church. Had a substitute last week and it went great (there are usually two teachers)
The hard stuff is that she is having more tantrums when she is frustrated and doesn't get what she wants. I think this is linked to the frustration of not being able to communicate. Another "bad" thing is that she has been a bit more "growly" in her speech, but on a positive note, for the first time ever she is actually willing to work on the quality of her speech. She will sort of growl/grunt a word and I will say no, not , but this... and she will use a softer clearer voice and try again. There have been a few words that have sort of shocked me recently. Today the girls got up before me and came in our room and I felt the covers lift off my face and heard "mom" and I thought it was Ellie because it was so clear, and it was Sam.
So, I think overall there are more positive developments going on and the negatives are necessary and we are working past them.
We met with Sam's kindergarten teacher and six other staff members to talk about next year. I think it will be a good atmosphere for her. She eats breakfast each day and then goes and dresses herself, puts on her shoes and goes to the garage door like "come on mom, let's get the heck out of here". I know some moms are so great at keeping homeschooling interesting and exciting and I might be able to if I didn't have an eighteen month old boy bringing me a toilet brush every two minutes or feeding his stuffed dog out of the dog's dish or pulling his sister's hair, etc etc. But, yeah, I'm not so entertaining I guess because my kids get bored. Especially Samantha. So, I think school will be good for her. They are concerned with the fine details of how to teach her and communicate with her, but I am having a hard time promising them how she will behave and what she will need in over three months from now. I am in "take it one day at a time mode" right now and still appreciating the seemingly tiny accomplishments like Sam trying on my shoes. I do however hope that we've taken some big steps forward by August. Her teacher had some good tips for getting Sam prepared. One was to practice treating her like she is a big girl and having her sit on the floor and listen to books rather than having her sit on our laps to prepare her for circle time at school and already she is doing great. She has zero problems understanding the process and cooperating.
One new program angle we've taken lately is videotaping ourselves doing program (camcorder on a tri-pod) and then playing THAT back as a therapeutic video. Sam and the other kids love watching it and it's a completely guilt-free TV babysitter for me in the afternoon!
I got an email last week from our genetic counselor that she had finally located another family with GAMT and here's the scoop: It's a family in California. Their son is three now. He had an MRI at ten months because he had very poor muscle tone. So much that he wasn't able to sit up in his mom's lap. The MRI showed a large "gray matter" area (meaning that it wasn't developed like normal tissue) in his basal ganglia area which is the metabolic region. He was then diagnosed as having a fatal mitochondrial disease that would eventually shut down all of his organs. After running some follow up blood/urine work they noticed that he was low in creatine and eventually they put it all together. She believes that they are the first family in the U.S. because she hasn't been able to find anyone else. He was case number 28 in the world. Two years later, Samantha is case 38. Within two months of diagnosis he was sitting up in his mom's lap and at 17 months he was running around. Now at three years he is speaking in four word sentences and his mom says that if I saw him I would have no idea that he has GAMT. Also, his basal ganglia region now looks completely normal. That is the most amazing part! Anyone who thinks the human brain isn't capable of growing and changing is crazy. It has been great to have someone to bounce things off of and compare notes with. She mentioned that they are doing bloodwork every 90 days and now our geneticist wants to do the same. Really, he's the poster child for GAMT recovery so probably any geneticist could learn something from his case. Oh, and the mom is pregnant and has had amnio and confirmed that she is having a girl with GAMT. It is expected that with the mom taking creatine orally during her pregnancy and the baby starting supplementation from birth, her development should be completely uninterrupted. How can this not be on the newborn screening??? How many undiagnosed cases are out there that are being mis-labeled as cerebral palsy or autism, etc???
Okay, update and rant complete. :)

Little Things

Here are a few little things I've noticed recently...
First, Samantha is clinging to me and wanting me to hold her and cuddle with her constantly. Usually it's been a quick, distracted cuddle that she's sort of "put up with". Now she would let me hold her all day. She reaches up for me, wraps her arms around my neck and then her legs around my waist. I feel like this is probably an important developmental step, not to be ignored, so I am trying my best to lug around my 47+ pound five year old as much as I can. I know I would be twenty pounds heavier without my kids keeping me going and well, this is icing on the cake!
Secondly, she is loving me blowing on her tummy. Previously she would totally ignore "raspberries" or even look annoyed. Now she is lifting her shirt and pulling me in for more, laughing and even loving tickles.
Those are the biggest changes I've seen in the last few days. Hopefully both mean that even better things are on the horizon. ;)

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.

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.