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!!!
Tuesday, April 28, 2009
Monday, April 27, 2009
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. :)
>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. :)
Wednesday, April 1, 2009
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. ;)
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. ;)
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