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

Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency


Holly Elizabeth May 29, 2012 at 1:15 PM  

There is still a lot that I don't understand, but thanks to your awesome writing skills, I now understand more. This is a fantabulous discovery and Bugs reactions sure look hopeful. Not only is this huge for you and your family, but it huge for the study of genetic disorders too, right? :-)

Nett May 29, 2012 at 1:25 PM  

It is. It's extremely hopeful considering he is taking 1/3 of his final therapeutic dose! Can wait to see how he does when we get the dosage higher. The Folate issues affect SO many conditions. I had no idea until we started looking. The second study is less than 3 weeks old. Can't wait to see the works that will be based on it in the following years.

falvesjr May 29, 2012 at 1:50 PM  

Any pieces that can be added to this puzzle make the overall picture that much more complete. And Bug that much better for it! =) XO

Jennifer May 29, 2012 at 2:18 PM  

I'm so excited to hear this! I sincerely hope you find the thing that is going to make you guys leap into the future with him! He deserves it!

caraellison May 30, 2012 at 8:35 PM  

Annette, this is amazing! I am hopeful. : ) Sending you love and good thoughts.

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