Tuesday, September 14, 2010

GAMT is being diagnosed

Just in Utah, there have been three more diagnoses of GAMT since Sam's diagnosis in February of 2009. That's a lot when you factor in that Sam was estimated to be the 49th in the world at that time. I also am aware of one case in North Carolina and two in Illinois that have been discovered since then as well. One of the cases in Utah is a second cousin's child who also got lucky and while having some testing done, had a technician decide to run a spectroscopy on a hunch. That hunch saved a little boy's life.
Before PKU was "discovered" and automatically screened for at birth, all those people suffering from a fully treatable disorder were diagnosed as mentally retarded and left un-helped. The same tragedy is happening today to children born with GAMT deficiency. I feel so badly for anyone searching for answers. There are definitely more causes yet to be discovered for developmental delays, but GAMT deficiency is no longer one of them. It has been discovered and is treatable with the best results coming from early treatment. Both Duke University and the University of Utah are working on newborn screening tests that would be able to detect GAMT deficiency from the routine heel pricks babies receive in the hospital, but until then there are bound to be children slipping through the cracks and suffering the consequences for the rest of their lives. The symptoms vary so much from child to child that it's hard to say "look for this one thing".
My advice to anyone whose child is suffering from something un-diagnosed is to push for more testings of all kinds- blood, urine, DNA, MRI with spectroscopy. Don't let a pediatrician or developmental psychologist look at your child only from the outside and slap a give-up label on your child of "delayed" without looking a level deeper for answers. If a thousand children are tested and only one of them gets information that helps in their recovery, isn't it worth it? It's so intimidating to be a parent only armed with "hunches", but even doctors (and MRI technicians) rely on hunches and you know your child better than any doctor.
Just had to put that out there because I wish someone would've said it to me years ago...

Monday, September 13, 2010

Last Year I Couldn't Talk...

A lot has happened in six months... I'll start with a kindergarten wrap up.

Sam had an animal report in May. I gave her several options and she chose to report on elephants. The report was all fill-in-the-blank for the information required: "My animal is _____". We filled it out and practiced reading it many times. She read it to several people and I underlined the words I thought she could read on her own. I worried that she wouldn't cooperate or be too shy and quiet, but when I picked her up after school that day her teacher said she did great. She read the underlined words and repeated the words the teacher prompted her on. Her teacher was surprised that she could say "elephant" nearly perfectly. When she finished the report all the kids cheered for her. I know it can't last forever, but right now it is so great to have such wonderful peer support. Her classmates are a unique bunch of kids. We couldn't be more blessed than to have her attend this school.

The grand finale of kindergarten was of course the graduation. Sam sat very well with her class. Her teacher talked about how much each student had changed over the course of the year and they took the microphone down the line having each child say what they could now do that they were not able to do at the beginning of the year. "Last year I couldn't count to 100, now I can", etc. My heart was pounding for Sam wondering if she'd be skipped or if she would try to say something and noone would understand her. Of course, she did great. I caught the moment with my video camera.

Incase you missed it she says "last year I couldn't talk, now I can". I can't watch that video without crying. Really, I've probably watched it twenty times. Her speech is much clearer now, but I was just so proud of her at that moment that I thought my heart would burst. I have a terrible memory, but I know I will never forget that moment. Yes, I'm bawling like a baby again. ;)

We had a fun summer and have watched Sam continue to blossom. At her birthday party in July she sang "Happy Birthday" to herself as soon as the cake came out. Here's a birthday video to enjoy:


We are into our fourth week of first grade now. Sam goes in a little after the rest of the school starts and has resource first where she is getting one on one teaching that is really making a difference. They are hoping to have her caught up to first grade level math by December. Her sight words continue to grow. She is at about 70 words now and the requirement for the end of first grade is to be to 100. She goes to lunch, recess and the last part of the day with her classmates. Her aide was staying with her for awhile, but now she is on her own a lot of the times and doing very well. Her teacher says she is great in the classroom, but sometimes complains "I want to go home" or "let's get out of here" when she's getting exhausted. Her resource teacher says she has already made big progress.

We went back to NACD to fire up program again and have been doing tons of work at home as well. Basically Sam gets up, eats, works with me for an hour, goes to school for five hours, meets her tutor at our house five minutes after she's gotten home and puts in two hours of work with her. She is also rock climbing again once a week and is doing amazing at that.

I've learned a few things about Sam and myself recently that have helped me develop more patience and hope. Every time I feel like Sam is backsliding, a week or two later she makes a big jump forward. Now that I have noticed that and watched it occur several times, I have a lot more energy to keep pushing forward through any developmental speed bumps we seem to stall out on. Last week I started feeling like our hard work is paying off and Sam is catching a little momentum. She has begun making very social statements to me like "mom, you came back" when I come through the door and "did you have fun?". The conversation doesn't go much further than that, but the progress is so exciting. I am really excited to watch this year fold out and enjoy her progress.

I know there is a ton I have left out, but I can't procrastinate this post any longer. I'll just have to fill in the holes another day.
I saw a quote the other day that I found inspiring... "You can't tell the future, but you can create it." It feels good to let go of the worry and anxiety and to just focus on the now. :)