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. :)

Wednesday, March 17, 2010

Year One Complete

I'm a little late, but two weeks ago marked the one year anniversary for GAMT treatment for Sam. Her geneticist said that after a year of treatment we should feel like Sam is a totally different child. And, he was completely right! Reading over my last post I can't believe "boo-K" was such a short time ago. Here are some random updates of happiness:

Last week, while waiting in a very long drive-thru line at McDonald's for apples, Sam must have heard me mumble under my breath, because she began saying, with much spunk and attitude, "Come On!" Even more attitude comes out when I ask her to do something and she says "okay, gee!" as if totally put out by the request.

Today Sam made pretty much her best sentence so far, "Mom, I'm hungry" while looking in the fridge. My mouth gaped a little at the expression of what she was feeling inside her little self (not to mention the wonderful word that is now used about 600 times per day to get my attention "mom!"). It isn't the most words in a sentence ever, but the most expressive. So cool. :)

Sam is bonding with a baby doll. She carries it around, even talks to it a bit and cried when she had to leave it at home to go to school Monday. Her doll's name is "Jessica" and Sam can actually say it pretty clearly.

Sam can read many site words (25?). Her teacher tested her on her alphabet this week and Sam passed upper and lower case with flying colors. Her teacher was so excited she sent me, all the aides, the speech and resource teachers and the principal an email with the subject line "Hooray for Sam!" We've begun discussing a plan for Sam for first grade, so it looks like we will be able to continue "main-streaming"!

Sam started another course of "The Listening Program" in December and a week or so later her teacher said "The music you are having her listen to is really helping. I'm seeing a difference". Then in January she said "it's weird, but I look up in circle time now and Sam is staring right at me, listening. I used to look up and find her totally distracted with something else. She is actually listening now." Reading books at home is the same story. Sam is actually interested in books outside of her five favorites that we've read a million times.

Sam's class has a new song/poem every week. Sam's favorite is "are you sleeping brother john" which she can sing well enough that others recognize it.

Since January I have been volunteering in Sam's class two days a week while they work on centers (specific topics like math, reading, art- broken into groups of six kids). This is where she has struggled to stay on task as the subject matter gets deeper than listening to stories and singing songs. It has been a great opportunity to prod Sam towards living up to her potential in the classroom. Her teacher has seemed very surprised when Sam has read words from easy books with me. A great moment was when Sam mumbled to me something about "potty" and I told her she needed to ask her teacher. She turned and said "Mrs. Brown, need to potty". Her teacher seemed stunned. I was able to stay late one day and go to recess with the class. Sam was right in the thick of the play- climbing with the boys, running with the girls and when it was time to line up, several kids were arguing over who could be by Sam in line.

Also since January we have begun weekly speech therapy and bi-weekly occupational therapy (OT). The results with both have been great. Every week her speech therapist is surprised that she has mastered (or at least made huge progress) with her new materials from the week before. The therapist has been such a positive person to work with and is very optimistic about Sam's future progress. She said that Sam has "apraxia" which is basically a difficulty motor planning the mouth and tongue for making the many unique sounds in speech flow together. So, we have to work on each sound, then combining that sound with another (like S, then See, Saw, Say, Sew, Sigh). And after lots of practice she should start building up the skills to speak more clearly. Evidently many parents of kids with apraxia work for months on things that Sam is accomplishing in a week or two, so we are all very excited. OT has been great too. Sam's pencil grip has improved and she is starting to make some effort to color in certain areas of pictures, etc. Not writing yet, but we'll get there. She can now button large and medium buttons fairly well and can use scissors to cut (mostly a jagged line, but big progress over nothing!).

Developmentally the progress is amazing, especially for me when I try to recall the details of three months since my last post.

On the biological/medical end of things, Sam's blood tests have shown that she is getting good nutrition and things are pretty balanced for the most part. However, her seizures have continued. I started wondering if, when a year ago we started the creatine and had such an immediate end to her seizures, if that wasn't solely due to creatine, but that the magic combination of meds and creatine is what worked so well. We slowly took Sam off meds last June (sure that the meds were useless because they had done nothing for her before the creatine began) and she began having seizures again about four weeks later. So... Sam went back to her neurologist this week and we started lamotrigene again last night. Today was her great "Mom, I'm hungry" day, so she is seeming normal or even better-than-normal. If the seizures go away on the tiny dose we are starting her at, we will just keep the dose super low. The doc we talked to explained that these seizures have been doing no damage to her brain (only seizures that cause a loss of oxygen to the brain are actually damaging) but that the one thing they could effect is her ability to recall, which is crucial in the billion things we are trying to get her to learn right now. So, we are really hoping this is the magic cocktail that calms those little electrical storms in her brain.

Thanks to everyone for their love and support, especially my friends that have been babysitting Ellie & Bubba so much to allow me to help Sam in the classroom and in therapy.
Keep praying for Sam, it seems to be working. :)

Friday, December 18, 2009

Christmas Break is here...

After my post about arginine, we had a visit with the geneticist and nutritionist. Here is how they explained the very complicated systems involved in arginine metabolism and production: the body can make its own arginine. If Sam isn't eating enough protein, or if she over eats protein (ie has 20 grams instead of 13) her body will start making its own concoction of amino acids through the Urea cycle and some arginine will be produced. So the whole thing is a big teeter totter balancing act. The number one best way to keep the teeter totter leaning to the safe side (not making guanidino acetate from arginine and thus building up toxins) is to keep creatine and ornithine in her system. If we do this, the little bit of arginine she will eat in her 13 grams of protein a day should cause no problems. They did however admit that it's not a bad idea to do my own research and educate myself on foods that are very high in arginine. And if I know a food is high, like chocolate, peanut butter, raisins... then definitely avoid it! Basically, educate myself to make smart choices, but don't bother counting milligrams of arginine. Done. Inner geek satisfied. I will try not to bore you with this mumbo jumbo anymore, but there are other moms (three now) who are dealing with the same questions.
This year has been an amazing whirlwind in my life and by far, the most rewarding year of my life. It's such a unique perspective that I've been blessed with to notice every little tiny thing going on in Sam's life and enjoy so many celebrations along the way. It's normal human nature to hear your baby's first approximations and think "she's starting to talk! woo hoo!" and then just let most of it "happen" without noticing every critical step that she accomplishes. Who ever says "my child put on a final consonant today!!!!" and then cries with relief? Yes, it's hard, trying, exhausting, etc. but the joy I have felt watching my daughter progress this year is very hard to match. I am so thankful at this time of year for my many blessings, but I will admit that Sam's diagnosis is at the top of the list this year. I can't even explain why, but for all these years I've had faith that Sam would progress. That she wasn't simply "autistic" or in some other way unreachable- even while loved ones proposed "accepting her for how she was", I knew she hadn't reached her potential. It wasn't an angry or blind denial, it was something more. I am so thankful for that spirit of comfort that I've enjoyed over the years and I am especially thankful now for the amazing progress that Sam is making.
In the official study on GAMT that we received from our geneticist, it mentioned that out of the small initial group studied, many had made improvements in behavior but noone had progressed in speech enough to say ten words. Again, I read this and thought "whatever..." it didn't really phase me. And now I am ecstatic to say that this week Sam started putting together three word phrases such as "more apple please", "help me sock", "want bar please", "bye bye daddy", etc. I officially cannot list how many words she has.
Last week her teacher told me that the initial state of awe during class had worn off and a bit of a behavior problem has begun as she is starting to get bored. She can't do the work the other kids are doing because she's behind, so she's on the outside of things even with the materials I am sending in for her. This got my mind racing for ideas of how to help and I decided a week ago that my kids should stop watching TV. I know, I know, I've done this before. My sister-in-law agrees that it's good to de-tox your kids by taking them off TV for awhile. But this time it was more complicated. I decided that Sam now has so many skills, that it's crazy that her language component is lagging so far behind (she is recognizing numbers, colors, shapes, letters, basically meeting all her IEP goals from just six or so weeks ago). And I recognized TV as her escape from listening to the real world and from communicating with me. It was hard for about a day and now noone is asking for TV. Trey woke up to find all three kids sitting on stools lined up in a row listening to Ellie "read" a book to them. It's tons of little social and listening based things that have changed. So, what do you know, six days into it, Sam has made a huge leap forward in her progress. This is of course skipping the first change in speech which was the before mentioned final consonant. About three weeks ago? she said "booK" and pointed to the closet we keep the bedtime books in. It was the first "consonant, vowel, consonant" word she has pronounced clearly (not counting repetitive consonants like "dada", etc). Before it had been "boo" and I understood based on context and pointing, etc. It really felt like her first word when she said it. Her voice was pure and real and it was amazing to hear. Now she has moved onto two syllable combos like "buckle", two word phrases like "more please" and now three word phrases. Will someone pinch me?
So now tell me, should I "just accept her as she is" or be a crazy, granola, weird mom that puts my child through kooky activities, takes away the TV, makes her listen to therapeutic classical music listening programs, feeds her smoothies three times a day and creatine cocktails six times a day and swears she won't stop trying?
I think every parent plays a critical role in their child's progress through life and their overall potential for happiness. I'm honored to be playing that role in the life of a little angel who is, to me, as sweet and pure as a newborn fresh from heaven. Merry Christmas.

Tuesday, November 3, 2009

School & Life update

I've waited too long and can't keep straight what has happened and what I've already blogged, so forgive me if I repeat myself.
School is going good. Even when Sam is having a really rough morning and I'm worried about her, she goes to school and comes home renewed and happy. The school has continued to be amazingly helpful and accommodating. She leaves the classroom three days a week for an hour of resource and two days a week for speech. Her teacher does an activity called "Brain Dance" which is basically lots of big movements- stretching, crouching, etc. that we all practice as babies, set to classical music. She mentioned at Sam's IEP meeting that Sam was unable to copy any of the movements and would just stand there watching the other kids. By last week Sam was walking around the house doing all these little moves she'd picked up from "Brain Dance"!
Sam hit some major gross motor milestones in October. She climbed all the way to the top of the rock climbing wall three times on her last night of class as well as began climbing sideways across a "bouldering wall". The sideways climbing is really great for brain development as it involves "crossing center". By the way, the climbing wall is REALLY high. I'm guessing 30 feet? And I'm pretty sure I wouldn't be able to climb it once, let alone three times! She also officially is able to pedal her bike all the way around our cul-de-sac and can even back pedal to break and swerve to miss her little brother walking right in front of her. I think all of this was spurred on by her daily treadmill walk/run as prescribed by NACD.
Her speech has hit the point where she has so much ability, I think she just needs more motivation and internal desire. She can pronounce all sounds of the alphabet except for "f,s,l,ch,sh,v,z". And she is imitating the number of syllables when she approximates words. In other words, instead of "baby" being "bu" it's now "bu-be". She has an approximation for "I don't know" and now understand to throw "please" onto the end of her requests.
I think all of this is a natural progression that has to be built upon over time. It is frustrating that it can't be faster, but if I keep my perspective, it is exciting that she has made so much progress in the last two months. She's walking around saying colors all day. We now know that her favorite color is NOT yellow, but is pink. And she is about 900 times more responsive in general than she was in the summer. I asked her today "are you comfortable" and thought "hmm... I don't think she'll know what I'm talking about", but she said very calmly "yeah" and didn't seem confused at all.
Her seizures are not gone. They are nearly gone now, but as soon as I think it's been three days since I've seen one, she'll have a couple. They are still very short and non-convulsive. Her diet has been tweaked quite a bit to try to balance this out. We finally found a medical formula that she will drink. Basically this formula (similar to an infant formula) consists of protein that has only the essential amino acids, meaning it is arginine free. She drinks this in a fruit smoothie three times a day and it provides 9 grams of her protein along with a good part of the fat and calories she needs. From the foods she eats, she is allowed 13 grams of protein. I did come across (finally!) an official recommendation for how much arginine she should be taking in per day. And as I suspected all along, just going low protein doesn't guarantee that her arginine intake is low. A single slice of "low-protein" cinnamon raisin bread containing only one gram of protein, actually has more than a third of her day's recommended intake of arginine. If this were her favorite food and I was giving her ten slices a day, thinking I was in her 13 gram range, we'd be in big trouble. Unfortunately I can't completely use the guideline for arginine because the arginine content isn't available on all foods. The cinnamon raisin bread got me wondering if the craisins that she had become a big fan of since the same time the seizures began were a hidden carrier of arginine, but that information isn't available anywhere! I've even contacted Ocean Spray. So, it is pretty much guess work :( but she seems better off now that she is relying on the formula for so much of her nutrition.
Another big accomplishment was that she followed a three step command in order last week. Sounds bizarre, I know, but very important in developmental milestones.