Results

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...

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!

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

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...

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

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...

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.