Teaching Samantha

GAMT is being diagnosed

2010-09-14T12:40:00.000-07:00

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...

Last Year I Couldn't Talk...

2010-09-13T12:23:00.000-07:00

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. :)

Year One Complete

2010-03-17T21:20:00.000-07:00

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. :)

Christmas Break is here...

2009-12-18T19:27:00.000-08:00

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.

School & Life update

2009-11-03T13:33:00.000-08:00

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.

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2009-09-04T22:02:00.000-07:00

My gorgeous girl!

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2009-09-04T22:00:00.000-07:00

Favorite new hobby is walking the dog!

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2009-09-04T21:58:00.000-07:00

No longer scared of camera flash and loves to say "chee". One day she will get the "s" sound ;)

What do Seizures, T&A and Kindergarten have in common?

2009-09-04T20:36:00.000-07:00

So, it's been a crazy couple months. Strap yourself in for a long update.

In mid-July we took a road trip to Ohio to see Emee & Papa. Sam did well with the drive. She seemed a little "off", but so did her siblings. I noticed while we were there that her tonsils were big and swollen again (had originally noticed this and ENT treated with antibiotics, back in February after getting a good view into her screaming throat while holding her down for her EEG). Even after all that we've been through, I will admit to feeling a bit intimidated by the medical community. I know there's an almost "moral" debate about what to treat and what to let heal on its own, especially in the Ear, Nose, Throat regions and I knew her pediatrician would blow us off unless she had a positive strep test. Which is totally confusing because what is "tonsilitis"? Isn't it something you want to treat? If it's "not treatable by antibiotics" then why did the antibiotics work last time?? Anyways, I knew this was an issue and when we got back in town I took her in and the doc tested Ellie for strep and said he'd treat them both if Ellie's was positive (her tonsils are also huge and red and swollen and Sam did NOT want to get swabbed). The test was negative and neither were going to be treated. That was Friday. I kept thinking that MAYBE I had seen very small seizures in Sam, but wasn't sure until I saw a definite seizure Monday morning. I was so bummed. I had been excited to bid seizures farewell six months before. I visited the Pediatrician who said he suspected the swollen tonsils were a trigger (basically an infection or being deprived of sleep by poor breathing can both raise your susceptibility to seizures). The neurologist, geneticist and ENT all agreed (MIRACLE) and by Wednesday Sam was in for a T&A (tonsillectomy and adenoidectomy). Her adenoids were "very large" and her tonsils were full of gunk that literally oozed out when the doc squeezed them (uggh... Trey was disappointed that the ENT forgot to save them and show us).
So, here we are, one week till school and I'm thinking we're good, we got this taken care of, she'll be great in a couple of days... Enter two weeks of living hell. I'm sure there are worse surgeries, but this was definitely the worst I've mothered a child through so far. For ten days she was lucky if she consumed 100 calories of liquid and she held down no creatine for eleven days. Now her eating/supplementing is back to normal but she is still having occasional seizures. I can't figure out if maybe her 'bout with anorexia' used up every molecule of creatine in her brain and we're on a build-up cycle now, but this one issue is very discouraging.
Because the recovery was so long, she started kindergarten a week late. She was so excited to get ready to go the first day. She loved her little uniform. Her excitement was obvious as she put on her backpack and went to the front door as if the bus were coming (like it did for her preschool in the past). The car ride there was great, still excited... and basically when I pulled into the parking lot she started falling apart. She was pulling against me with all her strength as I drug her in. When we got in the classroom the agreement had been that I would stay with her to make her feel safe and ease her into staying three hours, but she was a wreck, crying and saying "no no no no".
They had told the other kids a little about Sam the day before and the kids were all paying close attention to the entire event. One boy at her table said "She can't talk". Another said "Yes she can, I heard her! She said "no"!" Another said "I think maybe she can't talk because she can't hear, because I couldn't hear when I was born". All super cute kids.
One of the aides was especially helpful and came out into the hall with us and asked all about Sam and how she'd adjusted to preschool before. Her son (third grade I think?) is at the same school and has autism. I was so excited to hear that because obviously she wouldn't be thinking I was crazy for mainstreaming Sam and would have some experience that would help in working with Sam. She suggested that maybe Sam would do best without me there and I agreed, so she scooped up Sam and I hid behind a car in the parking lot while my daughter cried one of her only words "mama" and I had massive anxiety attacks about everything from, will she have seizures, wet her pants, self-explode?
She has now completed two weeks of school and has made huge improvements. Her teacher is great at keeping in touch with me and it seems that nearly everyday or so brings a new idea of something we can work together on (school and home). At first it was sitting with her legs crossed at circle time. We practiced this over and over at home and now she will sit like that for stories at home, while riding in the car, etc. "Following the line" has been lots of walking around the house with all the kids singing "we're following the leader". Her teacher has been a perfect fit for Sam it seems. She is accepting and kind, but also has strict boundaries and classroom rules and from what I am hearing, Sam is learning to follow the same rules as the other kids. She isn't able to do all the same academic things, but I think it's all about baby steps. She can't write her name when she's just learning to cross her legs, etc.
The second day I took Sam in and another little girl came in dragging her mom over to me and the mom said, "She has been talking about Sam all day and said I had to come in and meet her". A little boy getting into the car next to us said to his mom excitedly "Look mom! It's Sam!" I'm not sure why these kids are so fascinated and kind, but I am hoping it lasts. Sam will be at the same small school with the same kids for 10 years- so much better for her to feel secure and confident than the local elementary school with twice as many kids. I think the social experience this is giving Samantha is critical to her development right now and it's carrying over into how she is playing with Ellie and Will. She is much more engaged with them and bored less often.
About a week after the surgery, I noticed Sam was making some new sounds. Just sounding different than before... Hard to describe. And now since she's totally recovered her speech has improved amazingly. It is so different that it's almost like she can finally hear herself for the first time and is improving with practice. Two days ago she began making the "w" sound for the first time. Today she kept trying to say "water" at the dinner table for more to drink. She has begun yelling "YEAH" as clear as any child when I ask if she wants something that she loves (candy, whatever). All around there are just a lot of improved pronunciations. In her earliest and worst days of recovery her speech was completely gone. Not a "no" or "mama" or anything for many days and I was SO depressed. It really was some of my darkest days and I really feared that she had backslid a mile and that it would be six months before she got back to where she had been. Just one more time where I needed to get kicked in the butt to remember to have faith and patience because I never will know what is around the next corner... :)
Oh, also, last horseback trip (16 days post-surgery) Sam didn't even have to be told to straighten up, she was dead center and perfectly balanced and awesome. Also, I have enrolled her again for rock climbing because I am so excited to compare her abilities now to a year ago when she was undiagnosed/untreated and having chronic seizures! Should be good!

Choline

2009-07-11T14:01:00.001-07:00

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".

July 3, 2009 Update

2009-07-03T13:43:00.001-07:00

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.

Kindergarten testing & Horseback riding round 2

2009-06-04T19:38:00.001-07:00

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.

Bright Eyed, no bushy tail

2009-05-21T21:19:00.000-07:00

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!

Duke GAMT study

2009-04-28T13:34:00.000-07:00

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!!!

4/27/09 Update

2009-04-27T19:09:00.002-07:00

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. :)

Little Things

2009-04-01T22:45:00.000-07:00

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. ;)

DNA results

2009-03-21T14:27:00.001-07:00

We got a call yesterday that the DNA tests are complete and that Samantha definitely has GAMT . One of the mutations is a known mutation, but the other is a new mutation that has never been identified before. Trey is hoping he has the new mutation (haha). The genetic counselor mentioned having Trey and I have our DNA tested as well so maybe we will found out who has which mutation. Regardless, things are official.
Samantha has yet to say "Mom, let's go to Disneyland" but she seems to be blossoming each day in different ways. That is, each day that she hasn't been sick. It seems like when she has been sick she has been crabbier than I have ever seen her. She is getting quite the attitude which I think is probably a good sign of independent thinking. Instead of going in the back yard and disappearing to play on the side of the house with non-toy items, she is swinging on her own, following Ellie into the playhouse, sliding etc. She is watching other children intently as they play at our house and just seems to be soaking in a lot more in general. Today we were outside and Ellie said, "Look mom, birdies" and Samantha 1-turned and looked at the birds, 2-pointed and 3-said "bu". Each of these is a developmental achievement and the combining of all three is totally cool to see her doing.
We went to see the pediatrician last week and I told him about the diagnosis and he was really surprised. He said "that is really unheard of that the neurologist would order an MRI for a five year old with seizures, especially the spectroscopy. Usually if there is a metabolic cause, seizures would have shown up in the first year or so." He also said, "Wow. We never get answers. I am getting chills. I can't believe this." All of that just confirmed in my mind that Sam's neurologist was inspired. If he had just sent us home with a prescription and a follow up in six months we would have no clue and I hate to think of what road we would be on now. I need to think of the perfect gift for that doctor to say "you changed my life. you rock".
The diet is pretty easy now and with the discovery of the flavor-concealing abilities of the "super juice" from Trey's work, I can now get Samantha to gulp down her creatine. She gags when I try to give her the medical food so we've yet to conquer that, but all things in time...
We had an evaluation yesterday with Bob, the founder of NACD and here are the cliff notes. Bob reaffirmed our belief that Samantha will talk. He told us that he sees kids her age begin talking all the time and that his own step son couldn't follow single step directions until he was seven and didn't speak his first words until he was nine and is now speaking in full sentences. I expressed how frustrating it is that every teacher and speech pathologist wants to say "let's teach her signing or use picture cards for communication" and he said "well, it is a lot easier to teach a child that they can't talk". I totally agree.
He also confirmed that this is a whole new chapter for Samantha and that we should be full of high hopes for her. He recommends that we try sending her to kindergarten and if it doesn't turn out to be a positive experience for her, we pull her out. The big change regarding program that he recomends is involving Ellie in program as a constant role model for Samantha. I had the epiphany as we were talking about the struggles of getting program done that I need to schedule my day to do program with all the kids during set times and forget about the program checklist.
In the adult work environment, checklists were very motivational to me and gave me a sense of accomplishment and direction, but working with Samantha is 100% different. There is no immediate pay off and things take days, months or years to really check off. So, I am going to focus on keeping a positive and healthy atmosphere with program sprinkled in.
Don't misunderstand all my lofty goals and ideals... I stress out, freak out, and tire out all the time. I am not a perfect parent. I think parenting any child is a learning experience and noone's born knowing how to do it just right. So, good luck to us all ;)

Nutritionist Follow Up

2009-03-07T20:47:00.000-08:00

The first week of low protein dieting taught me that twenty grams of protein is a very small amount compared to what most people (even five year olds) eat, unless they are vegan and then it's very difficult to hit twenty. So, based on the nutritionist's instructions we are now mixing in a little dairy to get up to the twenty mark a little easier. The tiniest little slice of cheese (measured to the tenth of a gram) is four grams of protein. A Kraft single is three. So, we have found a happy medium for now. The inner science geek in me is still struggling with the knowledge that the arginine in animal sources is higher than, say rice, but I just can't shove enough low-arginine food into her to get her up to twenty grams. There is a medical grade "food" which I believe is another powder to mix into a sugary/yummy drink that has a lot of protein, fat and calories but none of the protein is from arginine and the nutritionist is sending us samples to see if Samantha will take it. If she does, there will be less of a balancing act to avoid arginine, but consume enough protein. I secretly want to start a website and figure all this out, including meal plans, recipes, etc., so that the next family diagnosed with this will have a resource to start with. There is literally NO support group for this.
Anyways, we are adjusting and finding ways that she can actually eat like a pretty normal kid. McDonald's is a cheeseburger minus the burger (5 grams), twenty fries (2 grams) and a yogurt parfait (her absolute favorite food in the world- 4 grams). And it's actually nice to get 11 grams "under her belt" by going there.
The geneticist came in to the meeting this week and mentioned that it will take a whole month to get the guanidino acetate levels down to about 50% which is the level at which her brain will be able to start really firing up and making better progress (the creatine should already be a lot higher), so I have that in the back of my head, giving me patience for now.
Despite the fact that she's not "fired up" yet, we have seen some real improvements since starting the diet and supplementing. On Saturday, day two of supplements and four of dieting, she had a seizure in the morning and we haven't seen one since (over one week ago). I am really happily surprised. She had done a little better on the seizure meds, but was still having a dozen or so a day and they just suddenly stopped. The second really definite change is that she had regressed a lot in her potty training for two weeks prior to the diet and that has pretty much completely resolved itself.
There are other little things that I'm less sure of (we've been through so many "experiments", constantly LOOKING for positive change, that now I'm a lot more reserved in my judgment), but those two things alone are very encouraging.

Geneticist Appointment

2009-02-24T19:01:00.001-08:00

Well, we met with four adults in a tiny little exam room today for about two and a half hours. We started with a 101 course on GAMT Deficiency explaining why there's a problem and where supplementing creatine and ornithine and restricting arginine come into play.
We also talked about her diagnosis and that it's basically 100% firm, but they would still like to do a DNA test just to have the information. If any other family members suspect they are at risk or just want to know if they are carriers they could have a much more affordable test ($200-300) because the search of where to look and what to look for would be greatly narrowed down after Samantha's lengthier test ($1500). An example of who may want to know one day is Ellie when she is ready to have children.
The geneticist was an awesome Italian with a super thick accent in his 50's? and he had great things to say about Samantha. He mentioned that when we come back in four months to follow up with him, she should be talking more and doing much better. He referred to her as a "mild" case and was pretty impressed with how well she has developed inspite of the condition.
The nutritionist joined the group towards the end and felt like we were being bombarded with too much information and wouldn't be able to tackle the diet right away. She gave me some basic information (while Trey walked the halls with Samantha for ten minutes) and is going to meet with us next week to get us officially started. Samantha can have 20 grams of protein per day (that number will go up over the years as her weight goes up). I think that if she cuts out all meat and dairy that we can do this without too much difficulty (not that cutting out yogurt, milk, cheese, nuggets, etc isn't difficult!). For example: a glass of cow's milk has 8 grams of protein, but a glass of rice milk has 1 gram. So, having the right foods on hand will be key. The food group with the lowest amount of protein is fruit and luckily she loves fruit. The foods she can have with no limit are "pure fats and sugars" (yum yum!), straight sugar candy, kool aid, popsicles, etc. I'm not sure what "pure fats" are, but I think we'll stick with sugars.
We will have to petition the insurance company to help pay for her creatine and ornithine, but I went ahead and placed a mail order call on our way home to get a kilo of both headed our way. She will be on both of these for the rest of her life and she will be watching her protein intake for the rest of her life. The severity of the diet in the long run will depend on her body and how she responds to the current guidelines. She may regulate to where she can have a higher amount of protein, but will probably never be able to eat totally "carnivore" again.
I hunted down a "scientific grade" scale for measuring out her meds each day and am excited to get started in 2-3 days when the supplements arrive. We will be tracking her food for three days and shooting for about 30 grams of protein per day this week.
Ironically I received an acceptance email today for Samantha to attend a local charter school for Kindergarten in the fall. I'm not sure that she'll be up for that, but it is cool to know it's an option.
I feel like I'm in a little dream right now. I am overwhelmed and ecstatic all at once. I definitely feel like I need to pinch myself every five minutes.

Results

2009-02-22T09:20:00.000-08:00

I got a message from the neurologist's office on Thursday that they wanted to talk to me about the lab work we had done. When I called back, the physician's assistant who had called me was unavailable, so they checked Samantha's chart and said that no results were in. I was of course a wreck and so I called the geneticist. I began explaining that I was looking for lab results and had been rescheduled and without anymore information they knew who I was and transferred me to a geneticist. She answered, "Are you calling about Samantha?" This all made it pretty obvious that we were the buzz around their office. She said she had results, but that we could talk about them Tuesday because it's easier to explain things in person, but I couldn't wait and pushed for more information. It turns out they didn't actually do DNA testing yet; they tested Samantha's blood for creatine in the plasma and her urine for an enzyme that would normally not be there because it is broken down into creatine. Well, Samantha had low levels of creatine in her plasma and high levels of the amino acid in her urine. All of this means that she most likely has "GAMT defficiency". They will do DNA testing now (the insurance wouldn't pay for it until the geneticist had basically proven ahead of time that Sam has what they think she has). Evidently this geneticist that we will be meeting with is amazing and the geneticist I spoke to said he is never wrong and if the results we had so far weren't as definite as they are he would probably pursue other causes of her creatine defficiency.
So, now we have a diagnosis. I won't go into all the facts I've read about this, because I am prepared for all of that to change on Tuesday. Every case study I have read about this disorder is so different that there is no definite prognosis. I will say though that Samantha is MUCH better off than a lot of the kids I've read about, so I still have high hopes. We will begin supplementing creatine and ornithine on Tuesday and we will meet with a nutritionist and begin this diet. The hospital has one other child with this disorder. He is a three year old and has been doing very well. I am hoping to talk to his mom soon.
I can't help but think that all the cooky things we've tried with Samantha (including extreme diets) have helped prepare us to feel a lot less overwhelmed at the work we have ahead of us. And I feel like working with NACD has prepared us to know how to plow forward once we get Samantha's brain healthy and ready. Most of all I think we've learned a lesson in grattitude and patience- lessons I know I sorely needed. :)

One more week...

2009-02-18T09:38:00.000-08:00

The geneticist appointment has been postponed until next Tuesday. They somehow get test results in one week (not four weeks like the lab and neurologist had told me???), but didn't have them yet. So, we'll see if we are re-scheduled three times before the results are in? I'll post once the visit actually happens.

PLEASE 'go' in the cup!

2009-02-09T21:40:00.001-08:00

Today I went to the children's hospital expecting to get instructions on collecting a sample for genetic testing. It turned out they also needed blood and that it had to be drawn at roughly the same time as the urine (within an hour), plus they were sending their shipment (to a lab in Texas) very soon. So, my great plan (as approved by the physician's assistant on the phone) to hang out at Faith's for lunch while filling Samantha with juice and comfortably waiting for the sample did not work. Instead I had to hold down Samantha again (I hope she won't remember all this and hate me forever) while they tried to draw blood (at least they only failed once).
After failure to cooperate in the bathroom, a visit to the cafeteria for 32 ounces of orange soda and more failure in the bathroom, Samantha was a crying mess, Ellie wet her pants while watching and started crying and I, sitting on the dirty bathroom floor holding a specimen cup (empty still), started crying too. Will just sat there with a confused look on his face as if to say "what the heck is going on?" I will spare you the details of how we finished this visit, but we did, and now we get to wait approximately four weeks for results.
I got home feeling like this was definitely on the top ten list of "worst days of my life" until the neurologist called to say we had gotten in with the Metabolic Geneticist for next Tuesday and that he is very eager to meet with us!! Even though there won't be any test results yet, she said he may want to run more tests (ugh) and he also may want to get us started on some creatine supplementation and possibly excluding argenine from Samantha's diet.
I am excited that they aren't making us wait for weeks to get the ball rolling. I hate everyday thinking that there is something I can do to help Samantha and I'm not doing it. Though there is no diagnosis, it seems like, regardless of the cause, if her brain is low on creatine, it can only help to get her started on some supplementation.
This is the first attempt to "cure" Samantha that I don't secretly suspect won't work before we've even begun. I am so anxious to fast forward through the next week I can barely stand it.

All of this reminds me of the wise counsel of one of Samantha's preschool teachers which was "there are two things you cannot force a child to do: talk and 'go' in the potty".

Hoping for the worst

2009-02-06T20:13:00.000-08:00

Samantha had her MRI on Wednesday afternoon and was not able to wake up until the next morning at seven. (It was a little freaky.) We got a C.D. copy of the MRI on Wednesday and got home and started checking it out. Everything structurally looked fine (according to the technician's notes- I'm not claiming to be an expert). In addition to the standard MRI, the neurologist had ordered a "spectroscopy" which is done with the same machine, but it's a way of checking what levels of chemicals are present in the brain. The note regarding this scan said that she had a decline in creatine which could indicate a creatine deficiency state. He mentioned specifically a condition called Guanido acetate methyl transferase deficiency. I quickly did some reading up on this and here is my summary.
Creatine is a major source of energy in the brain, helping the brain work in general (yes, same stuff as body builders take). The specific deficiency mentioned shows the following symptoms in children: developmental delays from birth (not "she developed normally till 18 months and then regressed"), major speech delays and seizures. Pretty much Samantha to a T.
This is a genetic condition. It is pretty rare and occurs when both parents have the recessive gene and both give the child that gene (like two brown eyed parents having a blue eyed baby). This deficiency was only recently discovered. So why am I hoping for my child to have a rare genetic disorder??? Because the final adjective describing this deficiency is "TREATABLE".
Of course this is just speculation by a technician viewing her MRI. I haven't wanted to get my hopes up too much (or anyone else's). I have been calling the neurologist's office for two days driving them crazy to get the doctor's opinion. They finally called late this afternoon and want us to come in Monday for a urine sample to be sent to a special lab that handles genetic testing and they are setting up an appointment for Samantha to see the genetecist that specializes in metabolic issues as soon as possible.
All of this information was conveyed to me very delicately as though the physician's assistant was scared that she was going to drive another poor mother to tears. Finally I said "we've seen the report. Are these tests to pursue the possibility of the creatine deficiency disorder mentioned?" And she very tentatively replied, "Well, yes... but the good news is that it's treatable." My mind said "woo hoo" and my mouth said something more socially restrained and I hung up.
Treatment is mellow in the sense that it's totally safe. It involves oral supplementation of creatine which has no side effects, but it involves the most difficult diet I have ever heard of. The diet is to eat nothing containing arganine. Arganine is an amino acid found in:

Animal sources: dairy products (e.g. cottage cheese, ricotta, milk, yogurt, whey protein drinks), beef, pork (e.g. bacon, ham), poultry (e.g. chicken and turkey light meat), wild game (e.g. pheasant, quail), seafood (e.g. halibut, lobster, salmon, shrimp, snails, tuna in water)
Vegetable sources: wheat germ and flour, buckwheat, granola, oatmeal, nuts (coconut, pecans, cashews, walnuts, almonds, Brazil nuts, hazelnuts, pinenuts, peanuts), seeds (pumpkin, sesame, sunflower), chick peas, cooked soybeans

So, basically vegan plus gluten and casein free, plus a few more things. Of course, I will be happy to put her on this diet;)
The concept of "we're going to an MRI and may find a cure today" had never even entered my mind. I was thinking the closest thing to that would be, "there's a huge tumor that needs to be removed" or more likely, "her brain is full of glucose which is causing her inability to focus on the words coming out of her mouth. We think you should put her on ritalin". Really I expected nothing.
I am scared that I have my hopes up for nothing, but this is the most real thing we've learned about Samantha and I am going to keep my hopes up for now. I feel like these seizures had their sudden increase for a reason and were truly a blessing in disguise.

The doctor visits continue...

2009-01-30T13:38:00.000-08:00

Yesterday, after a long day at the hospital and a fancy dinner from Little Caesars, I put the kids in the bathtub while Trey tried to catch up on the work he had missed. I was so exhausted that I was ready to go to bed at 8:00 and wouldn't you know, Will stood up in the tub and immediately fell and split his chin open. So, I was off for another two hours of medical care. He got five stitches and was a real trooper.
As we were holding Samantha down and she was screaming yesterday, I noticed what looked like a popped blister on her right tonsil. I talked to the ENT and he said to bring her in, so this morning we headed up there and yes, you guessed it, her tonsils are swollen and infected. He said that everyone has holes in their tonsils, but that Samantha's are bigger than normal and she has more of them, so they act like food, bacteria and virus traps and are extra prone to infections. So, she is on two weeks of antibiotics and then we'll see how she's doing at a four week follow-up. I know it sounds strange, but in my situation this actually feels like a victory. I am excited to hear my daughter's tonsils are prone to infection, because it's one more thing I can understand about her that she doesn't have the language to express to me.
Anyways, after one dose of anti-seizure medicine, she has only had one seizure today (that I've seen). So, I'm crossing my fingers. Thanks to everyone for the support! And thanks to Trey for having a job that provides medical insurance:)

Neurology Appointment

2009-01-29T13:43:00.000-08:00

Well, it was a long four hours at the hospital and we are all exhausted, but we're done. We met with the neurologist and he decided we should do an EEG (measurement of electrical activity produced by the brain as recorded from electrodes placed on the scalp). We held Samantha down as a technician placed 23 electrodes in Samantha's hair and then wrapped her head with guaze and tape. I was fine with holding her down and listening to her scream, but really lost it when her head started getting wrapped. I was pretty overwhelmed with a flood of emotions as I looked at her all bandaged up like a patient who had experienced a traumatic head injury or brain surgery. Luckily the experience was not a waste of time. During about 25 minutes, she experienced three seizures as I read books with her and worked on program activities. Trey was watching the read out on the computer screen and said that the read out went crazy each time. So, we now know that she is truly having seizures and are beginning medication tomorrow morning. The seizures are a-typical abscence generalized seizures (I may have this not worded exactly right... It was a mouthful even for the physician's assistant). She has not experienced any convulsing yet, but with her type of seizure disorder it is possible, so it's really good that she is getting on medication to prevent that from happening. Next week she will have an MRI to check her brain and see if there are any obvious problems in its structure, etc. So stay tuned...

Long time, no blog...

2009-01-28T20:16:00.000-08:00

TUBES... In December a minor miracle occurred. We took Will to his three week follow up after having tubes put in and discovered that Samantha's eardrums were full of fluid. She had battled ear infections through the fall right along side Will. It's a minor miracle because we've always had suspicions that her hearing wasn't perfect. That it would come and go basically just like fluid does in some kids' eardrums without having an observable infection. A year ago NACD had suggested a regular schedule of tympanograms (way of checking if the eardrum is moving or full of fluid and rigid). After two tests showing no fluid, and a pediatrician and ENT thinking we were crazy to want to keep following up on "nothing", we basically surrendered, and decided to ignore our nagging suspicions. So, long story short, Samantha got tubes put in the week before Christmas. Her speech had pretty much fizzled down to nothing over the fall (no doubt, due to her world sounding like it was underwater). All the words she used to say, though maybe only I could have understood them, were gone. She became unwilling to even try to say things when I asked her to. Within two weeks of tubes, her words were back and she is now willing to TRY to say just about anything. Coincidence? I don't know, but I'm glad I don't have to keep wondering if she's hearing me.
FM UNIT... Along the same lines, two weeks ago we started using a device called an FM unit during all program activities that involve receptive and expressive language (ie, language she needs to take in from me and language she needs to speak back to me). Basically it's a set up for me to speak into a microphone and that sound is delivered to her headphones. She has a microphone attached to her headphones as well (though it isn't working due to "technical difficulties") so that she can better hear and focus on her own vocalizations. Teachers use a similar set up in classrooms with kids who have hearing loss. It's fun to watch her face light up as she puts on the headphones and looks at me with bright eyes as I speak. One thing that definitely changed is that she went from 50% successful on a "know your colors activity" without headphones, to an immediate and resounding 100% the first time we did that activity with the FM unit. Whether the increased success is due to overcoming a difficulty hearing or just focusing her mind to LISTEN, I can't say. But so far, it seems to be a positive supplement to her program.
PROGRAM... So, after driving to our last NACD evaluation in one of the craziest blizzards and being hit by another driver on the way home, (who by the way was hauled away from the scene because of an outstanding warrant for his arrest due to drug charges), we are back on a structured and intense program. We began January 5 when things settled down after the holidays. Samantha has been very cooperative and doing great.
SPACING OUT... After two weeks of working hard on the new program and using the FM unit for about one week, Samantha started having increased frequencies of "spacing out". She began doing this randomly (one to four times per day) about nine months ago. She stops what she's doing and rolls her eyes up a little to the right for about three seconds, then continues on as if nothing has happened. We told NACD about this and they thought these were periods of her thinking about things visually because she doesn't have the language to fully process everything in words. This explanation seemed somewhat satisfying until last Monday morning when Trey commented that an episode at the kitchen table seemed strange and not at all as though she were in deep thought. I already had a nagging feeling growing inside and his nudge was all I needed. I called the pediatrician and was told to get an episode on video, which was not at all hard to do. That day I tried to count how many times she "spaced out" and it was at least thirty times (by Saturday I estimated about seventy or more times). I decided to talk to NACD before going to the pediatrician. While waiting to hear from NACD, on Friday, Samantha had two very different episodes; once she stopped midstride while crossing the kitchen and dropped a bowl of popcorn. The second time, she was standing on a chair and fell limp bodied onto the kitchen floor. We rushed to the pediatrician's office and after viewing the video he said that he thinks she is having "absence seizures". We are scheduled for a visit to the pediatric neurologist in the morning.
A friend of Trey's said, in a nice way, "I would've thought you would have taken her to a neurologist three years ago!" and I understand how it can seem that simple. Unfortunately noone prescribes very expensive medical procedures based on "mommy hunches", etc. That is why the tubes are a small miracle and I'm hoping these episodes are a blessing in disguise as well. We're excited to finally get a full service tune up, even if it's just from the neck up. One thing I have noticed in the last few days since I am really tuned into these "space outs" is that the most common trigger is getting Samantha frustrated, sometimes with un-met desires, but mostly with challenging her mentally with program activities. It's as though she can't think too hard or her brain just shuts down. I am hoping that if a seizure medicine is necessary that it might also be beneficial in keeping her little neurons firing while we are working on learning new things and in the end possibly be the key to furthering her development.
I'll try to be better at updating this blog. If you're tired of checking and finding nothing new posted, click on the RSS feed symbol (orange square with sort of a white rainbow icon- it's up in my address bar). It's how you can be notified automatically when someone updates a blog or web page that you want to keep up on. Here's a video of Ellie and Samantha that you might enjoy. Yes, it's totally unstaged.

Tech Teaching

2008-11-05T20:30:00.001-08:00

I recently talked to Sara at NACD and got the contact information for five other moms with kids on programs. I sent an email to all five and within six hours had received warm and friendly replies from four of the moms. It has been so great to hear from these other moms going through similar struggles and compare notes.
One of the moms, Ashley, explained how she's been using technology to help her THREE kids who are on program. Her program (and mine) call for the use of flash cards with pictures of objects (like a dog, a banana, shoes, etc), flash cards of words printed (for learning to site read) and photos of "everyday life" things (like mom, dad, McDonald's, whatever). It also calls for videos of various things that we are working on like following directions, brushing teeth, playing pretend with toys, etc. Ashley is a genius and has basically combined all of these things into slide shows/movies and stuck them on iPods for her kids with attention grabbing background music. She says they love watching their iPods and at first she wasn't sure if they were really taking in the information, but suddenly they were following the directions they'd learned, they know the planets in the solar system in order, they know the names of various tropical fish, etc etc!!! I can't say how much I admire this mom whom I've never met. She is amazing to be doing what I know is a huge job with not one child, but three!! She has really given me the inspiration and motivation I was in need of.
So, here's what we've got on tap for Samantha right now. We are still on the "play and don't push it too hard" program. I have had an amazing month and a half in that I've been able to slow down and really enjoy bonding with my kids. I've also come to realize just how important Samantha is in my life and how much I am benefiting from having her as my daughter. Having said that, I am ready to move forward. Samantha needs to be challenged and as I notice her getting into more trouble around the house I think she's starting to crave the interaction of doing program.
Inspired by Ashley, last week we went out and bought a flip video camcorder. This cool little contraption has a USB plug that flips right out of the top so you just plug it into your computer when you're ready to download videos. The quality is not great for viewing on a big screen TV, but perfect for my purposes. It also comes with software for editing the videos, splicing them together and adding background music.
We bought a Creative Zen mp3/video player to load her videos and slide shows onto. Now I am just trying to conquer my "old person" syndrome of feeling overwhelmed by all of this technology and put together some good stuff.
I discovered that the best "slide show software" I could find is actually free from microsoft (just have to have a legit copy of Windows). It's called PhotoStory and is awesome. http://www.microsoft.com/windowsxp/using/digitalphotography/photostory/default.mspx
Here's a video I did that Samantha is mesmerized by. It's a simple collage of a day's activities set to music- not extremely educational, mostly just a first video to get her interested in this process (unless you're a grandparent, you will be bored to tears after 30 seconds, so no need to finish the whole 7 minutes. You'll get the gist pretty quick.)
Last week Samantha started an eight week rock climbing class. She was a bit overwhelmed at first, but I think she's going to love it. It's such a great activity for building coordination and focus. She looked so cute in her little harness- I'll have to post a picture once she's really scaling the walls.

Play Time!

2008-09-19T21:04:00.000-07:00

A week ago Samantha had her quarterly evaluation in person at NACD. We had been really struggling for the past few weeks because Samantha had been resisting doing program. Whenever this happens a vicious cycle begins: I do not want to even try because I know Samantha will be miserable, so I avoid it and I feel miserable with guilt because I'm not getting program done. Pretty much no one is happy around our house and I internalize all the responsibility. We were also worried because after a short two day vacation away from home, it seemed like our 99% potty trained daughter was now 10% trained. We also felt like she had regressed in speech as she was making fewer attempts at speech than she had a month before. We expressed these concerns to Sara and she had a lot of questions to ask. Finally she started asking questions about Samantha's play time activities and wondered what Samantha's favorite things were to do. After a long thought I admitted that I really don't know what Samantha likes because whenever I have down time from laundry, cooking and cleaning, I feel the urgency to get program activities done and checked off my enormous program list. I sort of hate admitting things like this. It's like admitting defeat in the competition against myself to be the best mom humanly possible. Why is it so impossible for me to "do it all"? Sara responded immediately that we need to throw the checklists out the window and play with Samantha as much as possible. Specifically, I am to do a lot of play that involves language, like tea parties, dolls, etc. We are to casually throw in program activities but no recommended number of times per day, just what we can sneak in while keeping things light and happy. She also explained that as kids on program are "globally three" (this means the various aspects of their development are all around three years of age- the obvious exception for Samantha being her speech) that they hit a wall where they don't want to do work. If it looks, smells, tastes or feels like work they lock down and parents often mistake this as a regression. I can't begin to explain the relief I felt. The idea of "just have fun and play" seems so foreign to me, but also very exciting!
Samantha's recent huge progresses are first that she has attended her church classes for the past three weeks in a row. She has never made it through all three hours of church. I'm sure the teacher is completely worn out by the end, but for Samantha it is huge progress that I can leave her in a room of fifty other kids and say goodbye and walk away and she will sit in her chair and wait for her teacher. I've listened in the hallway and haven't heard a peep from her. Three straight hours of sit still time is huge for just about any kid, but gigantic for Samantha! Also, I must add that she is back to 99% potty trained. She is still holding back on the speech attempts, but I think that will come back soon.
Her second big progress is that she rode some rides at an amusement park with us that she had been absolutely terrified to ride a year ago. I was so nervous to let her even try because I expected the rigid body and look of shear terror that had been there previously, but she did great!
I'd like to quote two people from opposite ends of the spectrum of social skills and intelligence.
First, during Samantha's evaluation as she was playing, Sara looked at Samantha, smiled kindly and said "yeah, you know exactly what's going on don't you?" Very nice.
Secondly, at the amusement park, we waited in a very slow line for the girls to ride the little boats. Samantha got very bored, wasn't feeling well and did some pretty serious whining while in line. Then once she was riding the boat she was all smiles and excitement. When the ride ended and I went to get her, the ride operator came over and said "Is your kid crazy or something?" Yes, some people are really that clueless. I gave her a stink-eye that could have killed a small animal and walked away thinking "Are you crazy?"

Chew Chew Chew

2008-08-26T20:39:00.000-07:00

We have a couple of new speech exercises we are working on. One is chewing gum. Lori, our speech therapist suspects that Samantha has oral motor planning issues (translation: "has a hard time making her mouth do what her brain wants it to do") and so we need to work to strengthen her mouth, lips, jaw and build more sensory awareness. I think she is completely correct. In the past Samantha has almost immediately swallowed gum and she was not too interested when we started this exercise. After about three days she is chewing her gum and using her tongue to move the gum from one side to the other and all of this with the hugest smile of excitement on her face! I showed Trey and he agreed that it was really cool to watch her chewing gum. It's one of those little things I realized "wow, she looks so different doing this. I've never seen her using her mouth and tongue in this way". I'm so excited! The other interesting activity is that she is using a type of mouth guard called a "myomunchee" (Ryan- heard of this?) to strengthen her mouth and jaw and aid in tongue retraction. I thought the "tongue retraction" was a bit weird because she doesn't walk around with her tongue out or bite it when she chews food, but now that we are working with it I see that she immediately wants to push the mouth guard out with her tongue as soon as I put it in like the guard being in there and pushing her tongue in is making her want to gag. She has made progress with this as well, but we've still got a ways to go. She needs to put it in her mouth, seal her lips around it, keep her tongue in and chew on it. All so complicated for a little girl that can't manage her mouth in a way to properly pronounce her words.
I think the really hard exercises are probably the ones she needs to conquer the most, so this is probably going to be really good for her.
I went in for a filling last week and my dentist must really not want his patients to feel pain because my mouth was very numb for over four hours. As I was driving home I stopped by the bank and tried to tell the teller exactly what I wanted. My tongue felt huge and I really couldn't feel where it was to coordinate where I needed to move it to in order to make the sounds necessary for intelligible speech. I couldn't help but contemplate how similar Samantha's tongue and lips might be feeling to her.
I saw a video on TED (smart/interesting people speaking on a particular topic for 20 minutes or less) tonight about a woman who had a stroke and exactly how that felt and the whole time it struck me how similar the symptoms of her stroke are to Samantha's developmental issues. (You've got to put this on your list of things to do on the internet:
http://www.ted.com/index.php/talks/jill_bolte_taylor_s_powerful_stroke_of_insight.html)
Maybe noone will get this like I did so I'll lay a few things out for you: "not knowing where her body was in space" "feeling like an observer of herself". I feel like Samantha experiences this frequently when she is laughing and enjoying others playing peek-a-boo, but then she will not be able to realize that she needs to cover HER eyes when she is asked to participate or not be able to find her eyes. Alright, never mind, I won't lay it out for you because it's really almost the entire talk that I felt really related to Samantha. It made me really interested in what type of work is done with stroke patients in their recovery and how similar is it to some of the work we are doing... Our focus with NACD is on neurological organization and development in a sequential manner. This means getting things organized and working on the lower brain and moving up. One of the ways we work on this is through a crawling exercise. First we do the deep pressure activity I spoke of earlier to increase her self awareness, I rub her arms and legs with scratchy type gloves on to increase her awareness on a tactile/skin level and then we get down on our tummies and do some true crawling (up on hands and knees is actually creeping). I had heard of this and thought "hmm... interesting" and when we went to do it, guess what?! Samantha could not use her left leg. Crazy!!! She walks around fine, climbs stairs fine, etc etc. What little blip is lurking around in her brain that her left leg will just hang there while her arms and right leg do all the work? Just another sign that NACD is so in touch with what this is all about. You'd think I'd be horrified, but I was actually sort of excited that I could see something concrete like this that I can actually work on. So, by the way, she is now crawling so much better! I can't explain how excited I am to see my five year old crawl around on her tummy using her arms and legs in a cross over pattern.
I recently went to a Don Aslett seminar. For those of you who don't know he is a cleaning guru who's written many books. He gave out a free book about de-junking and I've been reading it and thinking about how all the "stuff" in my house is so distracting to me. I've always known it, but I've been trying to ignore it and limp along with program and being couped up with three kids in the house all day never really feeling relaxed and at peace because the junk is always nagging at me... Let me clarify on "stuff" and "junk"; we are not pack rats, we just have some not-used, excess belongings and I am secretly a neat freak. You wouldn't know it because I don't always have a super tidy house. I just can't wrap my mind around the entire house all at once so I will go crazy on a closet or something and then try to ignore my urge to continue. I've heard of people who live in filth, but are actually neat freaks who are so paralyzed by their own high expectations that they live in a world of filth to avoid failing. I'm not living in filth, but man I would love to have the kids take a vacation without me for 48 hours while I went crazy with a label maker and a trash can. I'm mentioning this because it explains how I've been feeling about doing program lately. I can only manage little spurts of program and then something is driving me bonkers that I need to do or clean and I think if I can just do that one thing I'll be able to focus. Any good tips for how to put on blinders to a messy house while you focus on work that is more important in the grand scheme of things?
Another bright note to end on, Samantha has suddenly become so physically affectionate and is constantly walking up to me, hugging my leg, smiling and walking off. It is great! Just what I need to keep me going. Maybe she knows that...

What's "wrong" with your daughter?

2008-08-04T20:06:00.000-07:00

Program is slowly looking up. We have been working hard and Samantha is finally starting to re-warm to the routine and even some of the new speech activities. One activity involves flash cards that symbolize a syllable (i.e. a sheep means "baa", ghost means "boo"). If she realizes that I am wanting her to do all the work and say the syllable, she hates this activity, but through the magic of high fructose corn syrup rewards and a lot of excitement from me, she is sometimes forgetting that it's work and a few syllables are slipping out.
Another interesting thing I've noticed in the last two days is that she is finally starting to get some strong little muscles in her arms and especially her legs. One activity involves me squeezing VERY firmly up each toe, foot, leg, then fingers, hands and arms. I squeeze so hard that I cannot physically squeeze any harder and she will just wince a tiny bit. This exercise is meant to normalize her perception of sensation (which is obviously underdeveloped) and develop strength in her limbs, so I am excited to see her finally getting stronger.
So, I know that people feel a need to have a name to use to explain why someone like Samantha isn't developing like a typical child. And if you are one of those people, I'll give you my take on that. Samantha was diagnosed as having Pervasive Developmental Disorder- Not Otherwise Specified. As it was explained to us, the "Not Otherwise Specified" (or N.O.S.) means it isn't necessarily tied to a specific disorder such as Autism, it's simply a developmental disorder that is affecting her in more than one way (i.e. not just a speech delay or fine motor delay). However, people (mostly public school special ed) often want to lump her into "the Autism Spectrum". I have seen ADD and ADHD lumped into that spectrum as well, so it's a huge spectrum and in my opinion more damaging than good to have a label that pulls in so many kids that are so different. There's not one course of treatment to help all these children that are so very different from one another. A parent trying to help their child has to sift through so many things that don't apply to their child to finally find the things that do apply. It just seems lazy to me that the medical community doesn't try harder to give more specific diagnoses to kids based on their exact "symptoms".
If Samantha had cancer, noone would say "that little girl is cancer", they would say she "has cancer". That would lead most people to be open minded and ask lots of questions, "well how is the cancer? is it in remission? under control? horribly painful? is she on her death bed?" In other words, "having cancer" can mean many different things for what kind of life that child will lead. Unfortunately people tend to think "that child IS Autistic or Down Syndrome" or whatever the developmental diagnosis might be, instead of "they have autism or a developmental delay", and then asking open minded questions like "how is she progressing? what ways are you choosing to help her? what are her strengths/weaknesses that caused her to receive such a label? Do you agree with the label?"
I don't know why Samantha is behind and I don't know what is ahead for her, but I do know that she is an amazing little person and in my opinion doesn't fit any label perfectly except "UNIQUE" and I love her for that!

Being a Shut-in can be fun right?

2008-07-31T21:17:00.000-07:00

Samantha was doing so great until a week ago when we stopped doing program for various reasons (dentist appointments, out of town guests, Samantha's birthday, etc etc). Now that we have returned to program I feel like she's regressed and it's really not her fault- it's mine. She is just not in the routine of doing program anymore. I think her cognitive abilities are the same, but her focus is totally gone. It's a vicious cycle because now it's harder for me to work with her so I get less work done and she continues to struggle. I see this cycle coming every time we get distracted from our daily routine, but can't manage to avoid it. I think the only answer is to become a complete shut-in. So, when you wonder why I am hard to reach or not anxious to do things during Samantha's awake hours, now maybe you'll understand why. The fun times (ie forgetting about program and pretending I'm a normal mom) just aren't worth the week long battle that follows.
I should throw a little more info in to make sense of the above post. Samantha's "program" is a list of activities that we work on daily to address various aspects of her developmental delays. Some examples are listening to her music (www.thelisteningprogram.com), speech activities, sensory/tactile activities, etc. Each activities is prescribed to last a certain amount of time and to be repeated a certain number of times. If we did every single activity, we would be doing about 92 activities per day (this relates to probably 4 hours of constant learning. how many hours of one on one learning would she be getting in a public school?? Hmm....).
This program was set up by a place called NACD (www.nacd.org). They are located in Ogden, Utah and we have an evaluation in person every three months. Every month between evaluations we video tape her program and review it with our support person (Sara) and tweak her program as needed to maximize our success. In the beginning I was trying to get 100% of her program in every day and it was killing me to say the least. Sara told me that families who get in 50-60% of their program see good results and so 50% is now my goal and it's still pretty tough. I will say though that it makes a huge difference and I believe in the work I am doing with Samantha 100%. She has made a lot of progress in the 7 months that we've been doing this. She started at a sequential processing level of 1 (how many "things" in a row you can process. Take the test for yourself! http://simplysmarter.org/) and we are now working on 4's. That is huge as each level of processing relates to a year of cognitive development (most adults top out around 5-9. Some kids (aka geniuses) on an NACD program are processing in the teens).
Two days ago we added a whole new element to her program after having a Speech & Language specialist evaluation. This is a good sign too because she previously wasn't making enough attempts at language to even bother working on these types of activities. I am completely intimidated at the thought of how to get Samantha to do these new activities as the "speech thing" feels like the final frontier with her. I can break through a lot of things with her, but I am feeling completely humbled at the thought of this and am putting my faith in both NACD and higher powers that this is actually going to be something I am capable of. I have always believed Samantha will talk one day, I've just always thought it would be completely on HER terms. And really it is, but hopefully I'll find the inspiration to know how to prod her along in the right direction.

Opening Post

2008-07-16T21:17:00.000-07:00

So, I decided to start a blog to basically record for myself the progress and challenges of working with Samantha. It's 75% for me to remember how far we've come at any given time and 25% to let friends and family in on what we're doing. I'm not very good at keeping up with everyone's blogs, so I will be the last person to be offended if you don't keep up on mine! Thanks to all for the love and support they give us and for the patience and understanding as I live the life of a hermit to help my daughter speed up her development. Maybe one day I'll be able to watch soaps and eat bon-bons all day like other moms! (just kidding, I know it's serious work even with "typical" kids. I have a fiesty two year old afterall...)