Cerebral Folate Deficiency

March 29, 2011

Honestly I know of no kids here that went through spinal taps- but there

probably are others. I don't believe spinal taps, this diagnostic testing

went through is common here, so it's difficult to say if cerebral folate

deficiency is rare or not.

BUT -I found something VERY interesting on a quick search...

From the New England Journal of Medicine

Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome

T. Ramaekers, M.D., Sheldon P. Rothenberg, M.D., M. Sequeira,

M.S., Opladen, M.D., Nenad Blau, Ph.D., V. Quadros, Ph.D., and

Selhub, Ph.D.

N Engl J Med 2005; 352:1985-1991May 12, 2005

" Serum specimens from three children with cerebral folate deficiency (Patients

7, 9, and 21) did not contain these autoantibodies.

Patient 9, who had four of the clinical criteria for the syndrome, had frank

autistic behavior and recovered completely after receiving 400 mcg of folic acid

daily; he currently attends a regular school.

He was the first child identified to have the syndrome and received a

multivitamin containing folic acid, whereas all the other children were treated

with folinic acid. "

http://www.nejm.org/doi/full/10.1056/NEJMoa043160#t=article

I mean who knows, this could be yet another reason that NV is working -by

supplying the folic acid through food sources?

Please share this with your child's doctor. I'd be curious to see what he says

since supplementation is recommended. If you supplement your body will utilize

typically 10 to 30 percent -but if you get the nutrients from food you utilize

typically 100 percent. All the nutrients in NV are from food and it does have

the 400 MCG of folic acid per 2 scoops which is 100 percent of daily values

http://pursuitofresearch.org/products/nutriiveda/nutriiveda-ingredients/ and the

amount that made the one child " recover completely " . Here's another link to

share http://pursuitofresearch.org/find-a-professional/

I just find this so interesting that this child

" had frank autistic behavior and recovered completely after receiving 400 mcg of

folic acid daily "

and

" he currently attends a regular school. " (!!!)

At 7 years old your son would be on 2 scoops a day split into 2 servings but

that would be the full 400 mcg

http://pursuitofresearch.org/products/nutriiveda/frequently_asked_questions/

Why did they give a spinal tap? I can't even imagine preparing a child

for that- it must have been SO difficult!!! A spinal tap was never even

suggested for my son Tanner when they put him through all the genetic testing

years ago.

When you say has many other things in addition to the diagnosis of

dyspraxia, do the other symptoms have diagnostic names? We have quite a few

here that have children with multiple diagnosis including some with even rare

genetic syndromes. I may be able to introduce you to others with the same

conditions.

=====

March 29, 2011

Hi ..

He has the global dyspraxia, cerebral folate deficiency (just recently put on

Leucovorin and vitamin B12), dysphagia (aspirates thin liquids so all liquids

are thickened to nectar consistency), dysarthria, epilepsy (on depakote), adhd

(on focalin..which has done him a world of good!), acid reflux (has had nissen

fundoplication, but still has esophagitis so he is on prevacid STILL), hypotonia

(very poor trunk strength and very hyperflexible joints), SID (is a sensory

seeker and is both hyposensitive and hypersensitive in his mouth), definite

developmental delays in all areas, failure to thrive (has g-tube), a lot of

balance issues (very unsteady, wobbly gait that none of the specialists can put

their finger on), poor body awareness, has some visual issues with open space

phobia, insomnia (on clonidine), and has NO hunger drive whatsoever, so he has

some form of anorexia...which sounds so weird to say..

He used to have an irregular heartbeat (PVC's), but they have corrected

themselves.

He has had mri's, eeg's, bloodwork up the wazoo...and for many many MANY rare

disorders...all normal. They are looking to find something treatable...and

thus, the spinal tap. Which...I'm happy to say...that they did. Well, I don't

know if I'm HAPPY to find something...but considering he does have " something "

that needs finding, I'm glad that they have (so far) found " something " .

They are not hanging their hat that this is the cause of all his issues, of

course...and don't know the reason why he has the cerebral folate

deficiency...so, two weeks from today we are going to Atlanta (we live in NH) to

see one of the leading doctors in the world on rare metabolic diseases and they

are going to do a muscle biopsy.

Had they not done the spinal tap and found this, things would have gotten

progressively worse. So, I go with my gut and will not stop helping him.

I am also a single Mom, doing this alone. So, it can be quite stressing some

days. But at night, when he says " Mommy will you snuggle me? " It makes

everything alright!

Thanks !

Sent from my Verizon Wireless BlackBerry

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