Multimedia message

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?

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

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

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

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

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

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!!!