Disappointment

>> Thursday, May 31, 2012

He was a little off today. I think it's because I woke him up early for the last day of school. At least I HOPE it was because I woke him up early.

Regardless, he ended up with 3 minor seizures. :( I have sent an email to his Doctor asking to up his medication. He is just so happy and makes such GREAT eye contact when his meds are at peak. We have to get them up to a therapeutic level soon. Fingers crossed he reads his email tomorrow.

What are the odds?

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Scratch that

Make that 2. 2 seizures in 48 hours. Technically 2 in 16 hours. School called. He was in the bathroom and had a small seizure, but in doing so, he clipped his head on the sink. He is OK, but they have ice on it so keep the swelling down. He is the ONLY child in class today, he must be happy as a clam to have EVERYONE to himself for the next hour. That is the ONLY seizure I am allowing today. NO MAS.

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Tempering anger with direction

Sometimes, it's best to let a sleeping dog lie, and then other times...wake that sucker up and let's get on the road.

We woke it up and now I have the price to pay.

It's not about Bug this time, it's about test results. Results that were NOT delivered in August when they were identified by the lab as needing treatment. Test results that *we* demanded and were told were completely normal. Test results that, until yesterday, we were just grateful to have. Today, I am trying to be grateful that we just have them and we have a direction that may, or may not, help my little man. BUT knowing that the lab recommended treatment in AUGUST...yes, August, when he started the Keto Diet, August when he missed so much school because of the side effects of the diet that I almost got him in home classes. Yes...August...we could be six months into and, possibly, less than the several HUNDRED seizures we have seen in that time.

Should I have gotten the print out that was missing, MISSING, from the stack of medical records they gave me in July? BTW..the results were actually done in MAY and faxed in August. I can't even wrap my head around an entire YEAR of treatment that we missed and literally, 3 instances of Status, one Keto failure and the on again off again sounds he has been making. No, I HAVE to stay focused on moving forward.

Still...lesson learned. Test results will be COMPLETE and IN MY HAND within 4 weeks of the draw (blood, LP or whatever method). They may have been too busy, or too focused on him being pretty and just having 'bad brain', but Daddy and I knew there was SOMETHING to find and Daddy and I are NOT too busy to follow through. So, I will be a living nightmare for someone NOT doing their job from this point on. I WILL NOT look back and wonder, I will NOT subject him to more than he needs to be bothered about. Screaming over and direction obtained.

Damn it.

In the last 48 hours we have seen 1, let's count them on 1 finger, seizure. 1. He may be having more activity than that but what we are seeing, and can CONFIRM, is 1. Hooray, we're number 1.

For now.

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So close

>> Wednesday, May 30, 2012

He had a good run. 36 hours with no seizure and then...a 40 second tonic complete with a good bonk on the noggin. Damn. Back to 0. Still, he is more expressive and happy. Easier to redirect and wanted to play with Taylor. He hasn't done that in over a year. What I wouldn't give to see him chase her around the kitchen island again. Sigh. Maybe some day. Maybe.

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About Folate Deficiency in Da Bug

>> Tuesday, May 29, 2012

I won't say the last few days have been amazing, but I will say they have been remarkable.

Bug has been smiling more, making great eye contact, and giving open mouthed, very wet, kisses. He is following very basic instructions and it's kind of exciting. He is, however, still seizing. Not as much or as often, and it's not a surprise, nor are we expecting to see a big difference. His new medication may never help with the seizures, it is expected to help with his cognitive development, or lack thereof.

So let me detail what is happening with him, and what we have found that we are investigating.

Bug is unable to process folate properly. But even bigger than that, he is not able to get enough folate into his brain. He has a severe brain folate deficiency.

In April of last year, I was a complete biatch and demanded a Lumbar Puncture (spinal tap). I didn't have to be THAT persuasive, we had an excellent Doctor that time in the Hospital and he pretty much said: We haven't done that? Well okey dokey then. We were told it was normal and we went back home to 3 more hospital visits in the following 5 months.

Sometime between then and last week, the good Dr. Filloux saw the 5-methyltetrahydrofolate deficiency in that LP result and we headed in a new direction. It was a simple conversation which was followed by hours of hard core Google searching and A LOT of 6 syllable words.

What we have found since then, makes me want to scream at EVERY parent with an Autistic Child: GET THIS TEST DONE!

Bug's folate issues have only recently been identified by the medical community. And I mean recent. We put pencil to paper and realized that we actually only missed 5 months of potential treatment. We also realized that he, and I, need to be tested for FRa (Folate Receptor Autoantibodies). Better than half of people with CFD also test positive for FRa. Making a lumbar poke almost unnecessary. Classic CFD, Cerebral Folate Deficiency, is characterized by a low level of 5-MTHF and low Cerebral Spinal Fluid and now...a positive FRa blood test among other things (Bug has a normal level of Cerebral Spinal Fluid but an incredibly low 5-MTHF. Hence, our hope that any damage that might have occurred is relatively minor). We have also found that there may be some genetic markers for it, specifically, the Folate Receptor 1 Gene. The instance is fairly low (10 in 72 children) but it is still worth investigating for use as a positive diagnosis. Because NOT having a diagnosis sucks more than a Dyson.

The curious thing about CFD is it is progressive. It could explain some of the instances, like Bug, of one day being fine and the next, sliding deeper into themselves. They are simply losing the ability to process because of low folate and impeded neural transmission.

NOW the exciting part for us and SOO many friends: In one recent study, CFD has been found to be quite prevalent (almost 60%) in children on the Autism Spectrum! And the treatment for CFD is folinic acid. Now, before you run off and get folic acid, it needs to be specific. Increasing folic acid levels will not harm anyone and it will provide some minor help but it needs to be a prescription FOLINIC ACID. There are some OTC that say they promote 5-MTHF but these are high levels of Folic Acid and B Vitamins and not FOLINIC Acid. Folinic Acid crosses the blood brain barrier. FOLIC acid, in someone who has absorption issues will NOT.

So, I sent and email to his Geneticist at PCMC and we are seeing his Ped in the afternoon tomorrow. Excited...just does not describe it.



For those of you who like the 6 syllable words:

Cerebral folate receptor autoantibodies in autism spectrum disorder
http://www.nature.com/mp/journal/vaop/ncurrent/full/mp2011175a.html

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
http://brain.oxfordjournals.org/content/early/2012/05/13/brain.aws122.abstract

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One evening down

>> Friday, May 25, 2012

After Bugs first Leucovorin he slept. And slept. Made me look it up is what he did. Sure enough, it can cause sleepiness but not usually. That's my boy. Not usual.

So I sat by him all evening, periodically checking his O2 and kissing him to see if he would wake up. No luck. He was OUT. For 5 and a half hours. When he did wake up, he wouldn't eat. We gave him his nightly meds and an hour later he was back asleep.

It made me nervous that he would not tolerate it well and we would have to change medication. Especially since he slept all night. I should know, I was up at 12, 2, 4, and 6.

2 doses down.

In the morning, he had one small seizure and I held my breath that he wouldn't go back to sleep. He didn't. 2 hours later he was at school and we danced. He actually smiled the entire time. Haven't seen that in a while and I was encouraged.

Here's to a seizure free day!

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Well...Buggar me...dare I hope?

>> Thursday, May 24, 2012

Bug has been scaring me lately. Acting very tired, not eating much and having one to three seizures, that we know of, a day. I waited to do anything because we were set to see Dr. Filloux today.

After a bad morning, although a good breakfast (hooray McDonalds...it never fails), Glenn, Ava and I took the Monkey Boy to see the Doctor.

Pleasantries were exchanged, medication history transmitted, blood work discussed and a new direction agreed upon: up the Lamictal to 250 twice a day, leave everything else the same and then leave Onfi on the table for failure option.

And then....

Dr. Filloux became slightly animated as he said:
OH! I meant to talk to you about something we found in his Cerebral Spinal Fluid.

Wait...what..what...what? Something? You found SOMETHING? How Something?

He is almost completely missing a very important neuro transmitter.

Thud. That was my stomach.

5-methyltetrahydrofolate (5MTHF)...I recognized this immediately. At least closely...MTHFR. Remember that? Not related but still...I can say it.

Doc says: There is a condition, that I think we should treat him for. Treatment is an analog folate supplement.

Zing. That was my heart soaring.

He added: It is exciting to see how he responds...we actually found something we can treat.

I looked at Bug and then Glenn and wanted to cry. I am trying to hold myself in check but this has to help him. He is deficient in it so it HAS to help in some way. This is an exciting moment...and all I want to do is dance. But I won't. Not yet.

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What a Seizure looks like (Graphic Content Included)

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Seizure Tracker.com

Seizure Tracker.com
Free online tools to provide people living with epilepsy and their doctors with a better understanding of the relationship between seizure activity and anti-epileptic medication dosages. Reports generated on SeizureTracker.com include detail graphing capabilities and are easily sharable with caregivers.

Diamond Potential Awareness Award

Diamond Potential Awareness Award
Thank you Holly at Diamond Potential for this award. Awareness leads to understanding and acceptance. And let's face it, we all need to feel accepted for who we are. The battle has just begun!

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