July 3, 2009 Update

Last Monday Samantha had a clinic visit with the geneticist. Based on a blood draw in May it looks like she is getting the right amount of protein (just barely enough to be healthy, grow hair, etc). Her arginine levels (the specific amino acid we are trying to avoid) are in the bottom 25 percent for what's "normal" and that is good as well. They did another draw while we were there and that will show us (in 3-4 weeks) how her creatine levels have come up and guanidino acetate levels have gone down (hopefully). We are increasing her creatine and ornithine to 12 grams each and will see how that effects her.
We learned that the doctor expects it to be a full year until we see the "big change" in Sam and we learned a little more about her specific mutations. Her never before seen mutation (from Trey, and originally mapped on zebra fish studies) is actually a less severe mutation. It has been allowing her to break down her proteins enough to create a low level of creatine, explaining why she was diagnosed so late. Her other mutation, from me, is horrible. It is completely broken and does nothing (probably the same mutation that the kids diagnosed very young have). I have to admit it made me feel bad to hear this. It makes no sense on a rational level, but just knowing that I caused my child to have something horribly broken inside makes me feel sad. :(
So, we left that meeting with a more relaxed attitude, knowing that it's not upsetting to the doctor that Sam didn't come in singing the ABC's and that we need to not stress out over what's NOT happening and continue enjoying what is. The doctor did feel, despite Sam's typical melt down at doctors' offices, that she seemed to be doing better and several people have said the same.
On Wednesday last week we went to NACD for an evaluation. I have been struggling to know if I am doing the right things for Sam and have been pretty overwhelmed lately. I learned at the evaluation what should have been obvious, but I guess I needed some outside eyes to clue me in: I have lost control of Sam. I think to myself that I am a strict mom and that I set high expectations for her, but really I am constantly giving up when she ignores directions from me. For example, every night at dinner she will finish first and just take off. I will say "hey come back" and nothing... I will go get her and she'll whine and make everyone else's dinner miserable, so I say "clear your place and then you can leave". I felt like I was trying my best, but really, Samantha was running the show and getting what she wanted in the end.
The solution? Time-Out Boot Camp! And it's totally working. Any time she ignores me or has a melt down when she doesn't want to do what I ask, she goes to a five minute time out and at the end she's ten times more attentive and obedient. Just knowing that I mean business has really made her focus in on what I'm saying and what's going on around her in general. Don't get me wrong. She's had time outs before, but it usually wasn't until she was a total mess or did something really bad.
Horse back riding is going great. She and I went alone this week and she rode the horse alone. Eventually I didn't even have my hand at her side and when she'd shift off to one side I'd say "straighten up" and she got it. She even started bouncing up and down as the horse walked. She got to take the horse on a walk with a rope and loved that too. Soon we'll pick up the pace to a slow trot and put her in a real saddle (right now it's a blanket type saddle). She loves the whole experience and is giggling and smiling the whole time.
Her new progress is that she is pedaling a bike very well. Not necessarily all on her own uphill, but with a little pushing she is using both her feet and totally understands. She is getting stronger in her legs and I'm sure she'll be able to make it around the cul-de-sac by the end of the summer. She is also doing great answering Yes and No questions. Her no is pretty clear and her yes is "dah" but getting closer and closer to a "yeah". She will finally wear flip flops- she can tolerate them now and she can walk more than one step and they don't fall off! Ahh... the small miracles I have come to appreciate! She is also doing well with her colors and is getting more interested in numbers.
I have been in contact with another mom whose child was diagnosed with GAMT this week. They live in North Carolina and her son is 13 months old. He had been diagnosed for a long time with Cerebral Palsy, but that didn't feel right to his parents. It is frightening to think how easily this disorder is misdiagnosed. Especially considering that, if treated from birth, there should be no complications in development. I am still pursuing how I can push the issue of newborn screening for GAMT and have someone at Duke doing some checking for me to see if a test has been established at any labs that will work with the little blood spots they take from kids at the hospital (for PKU and other metabolic disorders) to check for GAMT. This mom was so hesitant to let herself be excited, but I am sure her son will have an amazing recovery based on his young age.
The first thing I can share with other parents is this blog, so I think I will try to update it more often and be more specific about what changes I am seeing. The big thing I should confess to other parents is that this is hard. I always post when things are going well and I'm feeling upbeat, but there is an equal amount of time when I feel overwhelmed, depressed, inadequate, guilty, and every other negative emotion possible. Hopefully I can look back at these hard times and feel stronger. But I can't give up. That's the one thing I know. There's no throwing my hands up in the air and then getting the best outcome for Sam. She truly has come a long way and is one of the sweetest little girls in this world.