Saturday, July 11, 2009

Choline

I have to share this. It's not scientifically proven yet, but whatever...

The new mom in North Carolina, whose son was wrongly diagnosed with cerebral palsy, had been giving him choline as a supplement as instructed by one of her doctors. She saw great improvements within a couple hours of his first dose. Now the doctors are wondering why choline helped a child with GAMT deficiency. One doctor at UNC wrote me back and said that "Choline metabolism is very related to the metabolism of creatine". Sam's geneticist says "it's possible it could help, but I need more data". I'm not trying to challenge anyone, but I have been working at "figuring things out" for so long, that I can't help but be curious about any leads for helping Samantha even more. A week or so ago Samantha ended the day with enough protein allowance to have an egg with her dinner. This is a total treat for her because she loves eggs and hadn't had one since February. That evening Trey and I both noticed how well she was doing with her speech and behavior (always validating for me if he notices too) and I joked that "maybe it was the egg". While researching this choline topic, I found out that eggs are an excellent source of choline. Anyone else find this interesting or am I just a crazy, desperate mom??
I will play by the books for now, but am definitely not against Sam providing the needed "data" by being a test patient if they feel it is totally safe to give her this.
Her yes and no continue to improve and just today she had some new utterances, a breathy "helmet" when she wanted to ride her bike and "stomp" while singing "if you're happy and you know it stomp your feet".

Friday, July 3, 2009

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.

Thursday, June 4, 2009

Kindergarten testing & Horseback riding round 2

Last Friday I took Sam to her school for Kindergarten testing. As I was driving there I was feeling wrong about the whole situation. I mean, why do I want anyone to test Sam just to tell me "this, this and this are sorely lacking". I just didn't see any purpose to it, and started debating what my alternatives were for the fall. I reluctantly went into the school and Samantha went into one room with her teacher and I sat next door filling out paperwork. After ten minutes or so they came back in and Sam was wearing a yellow crown with a big star and smiling ear to ear and the teacher said "she did great". She just tested her on colors and did a little drawing with her, nothing intense, but Samantha loved the interaction with her. We started talking about fall and the teacher's concerns for how Samantha will adjust and I think Samantha started getting frustrated like "okay, let's go already", so we hurried down the hall to meet with the speech therapist. She had a tiny little office and we crowded around a little table in the corner for some standardized testing which was annoying to see Samantha fail at, but after a couple minutes the therapist said "I knew these would be difficult, and really we just need her to get them wrong so we can say 'okay, she qualifies for help'". Then she explained that she knows we want to push speech with Sam and "what speech therapist wouldn't want the same?" but that she thinks it would be comforting to have a picture type schedule in the classroom and I said that sounds great. She said that she had already purchased the software and that they have also purchased a touch computer screen just for Sam to use and some software to go with that. I was blown away. I know without a doubt that we wouldn't be getting this quality of help through the public schools. I still can't believe she got into this school!!! And I can't believe that they are being accommodating and accepting of her. Her teacher is an excellent teacher- I went a couple weeks ago to record the classroom and her kindergarteners were reading, doing math, totally well behaved, etc. And that's been a bit intimidating because I know it will be different for her to teach someone like Samantha, but she was really nice and got choked up talking about Samantha and how frustrating it must be for her to have so much going on inside and not be able to express it. Whew! What a blessing and relief! At least I feel like we'll be giving this a fair try and will only pull Sam out if it just isn't working out to be the right thing for her, not because she isn't included by "the system".
We went horseback riding again this week and brought Ellie with us. We started exactly the same with feeding the horses some carrots and petting and brushing them, after which Samantha again got a little bored, but then we put Ellie up on the horse and Sam came right over and got on too with no hesitation. She was completely ecstatic and did not want to get off of him after a nice long walk. At the end she went into the barn by herself, found the horse cookies, got a bowl full of them and climbed up the steps to the horse's stable and started feeding them to him. She was really in heaven and it was very encouraging. We all can't wait to go back.
Sam's been walking around practicing all these breathy sounds. Weird, but at the same time, pretty obvious to me that it's practice, so definitely a positive thing. And today the long awaited ability emerged to blow bubbles. We've worked up to it by lighting a single candle and singing happy birthday and blowing out the candle over and over, and it finally paid off. Developing breath control is huge in speech. Unfortunately a lot of other things are huge too, but hey, we're moving forwards and not backwards or at a standstill. Oh, also, the speech therapist at the school was very positive about Samantha's vocalizations and the sounds she is and is not making and how she thinks she will help her, so that's great! I think we can't get enough people helping and giving their input, because obviously there's no one magic trick to helping her.

Thursday, May 21, 2009

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!

Tuesday, April 28, 2009

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!!!

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. :)

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. ;)