Re: Cerebral folate deficiency continued

[Guest guest]

Hi !

I have a bunch of information below because I'm trying to make sense of what is

going on with your son. As this message is so long I have the following

questions for you

1. How old is your son and please let me know the dates he started each drug

2. What type of schooling is he in?

3 (last but should be first but I didn't want to sound too anxious for this one

but I am) Have you had a second opinion from professionals (SLP, OT,

developmental pediatrician or pediatric neurologist) that treat large amounts of

kids with apraxia even daily...say from another state like NJ where there are

tons of kids with apraxia or autism or both??? Someone who can examine the

whole picture -try to get your child off of one or more of these many

medications- someone who combines a more holistic healthy diet approach. There

are for sure MANY excellent medical doctors today who do appreciate that poor

diet will lead to poor health and good diet will lead to a healthier body. You

have a child that isn't eating -and he's been giving contradicting diagnosis

names for this. Is he not eating for a physiological or psychological reason-

there is a difference and anorexia is different than failure to thrive for just

one of many examples of how this confuses me.

And lastly for the muscle biopsy you are going for in 2 weeks here are some FAQ

http://mitoblog.org/wp-content/uploads/2010/08/Muscle-Biospy-FAQs1.pdf

Wanted to put your two messages together so others that missed one or the other

can see the full picture. Because unless I'm missing something your child isn't

too much different than any here in that many of our children can be given a

host of diagnosis. And some of the symptoms your son has can be due to failure

to thrive inability to swallow or the host of numerous medication side effects

even!! I don't know how old your child is -but want to try to lay out your

points and get clarification from you.

Your child is on numerous medications

Focalin http://www.drugs.com/focalin.html for ADHD

Clonidine http://www.drugs.com/clonidine.html for insomnia

Depakote http://www.drugs.com/depakote.html for seizures (some drugs and or too

many drugs can cause seizures too)

Prevacid http://www.drugs.com/prevacid.html for acid reflux after having the

surgical procedure nissen fundoplication

http://www.webmd.com/heartburn-gerd/fundoplication-surgery-for-gastroesophageal-\

reflux-disease-gerd for acid reflux (is it possible all the meds are upsetting

his stomach?)

And most recently added

Leucovorin http://www.nlm.nih.gov/medlineplus/druginfo/meds/a682336.html for his

just diagnosed cerebral folate deficiency

(and again below from the New England Journal of Medicine it appears the folic

acid is better than the Folinic acid -and no side effects)

The following are his diagnosis so far which I would break down into the main

diagnosis with symptoms that could be related to each underneath. For example

global dyspraxia -a motor planning impairment of the body could be responsible

for all the reasons below it

global dyspraxia

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

their finger on)

hypotonia

poor body awareness, has some visual issues with open space phobia (more the UK

definition for dyspraxia for this one but still)

DSI or sensory integration dysfunction all the sensory issues fall under this

(they no longer use SID for sensory due to sudden infant death)

developmental delays in all areas (could all be due to motor planning)

epilepsy

adhd

dysphagia perhaps causing all the other issues below???

acid reflux

And then you also have...

anorexia or NO hunger drive or failure to thrive (has g-tube) How can he have

all three as they are all different or one could cause the other???

Perhaps some of these meds or the combo are making him lose his apposite or

giving other side effects which would fall into some of the symptoms? I have

all the links above

And again most recently

cerebral folate deficiency

Please email back and let me know a bit more about you son as far as age,

schooling. I'm also highly curious about the professionals you have taken him

too because while he's received this enormous list of diagnosis - it doesn't

appear that whomever diagnosed him even understands what for example dyspraxia

is. How can none of the specialists put their finger on why he has a wobbly

gait and has balance issues if he has global dyspraxia?

Dyspraxia and apraxia here in the US are used interchangeably and for most here

we refer to the speech aspect- but for sure if you check the very large

Dyspraxia Foundation symptom list most of your child's symptoms can be found

right here including many I didn't even put under dyspraxia- like the feeding

issues and the ADHD

http://www.dyspraxiafoundation.org.uk/services/gu_symptoms.php I mean...it's

possible as you live in an area we don't have that many members that your son is

viewed as " different " when in fact if you drove him to NJ where we have tons of

kids with apraxia and autism and more professionals that see these type of

children daily - he'd be diagnosed as a more typical apraxia but has compounded

issues now due to over medication...just a thought.

I'm very curious about your son's age because he's on SO many medications -there

is such a huge list of side effects and goodness knows about interactions

between all of these meds on a child's system! I mean again please read the

study I have below from the New England Journal of Medicine for your child's

condition - he " recovered completely after receiving 400 mcg of folic acid

daily " and the folic acid was found BETTER than the folinic or the drug

Leucovorin they put your little boy on. And I just looked quickly at the side

effects -you have a child that already has issues with swallowing and feeding

and trouble swallowing is one of the sever side effects of Leucovorin and you

are supposed to call your doctor immediately if your child has trouble

" difficulty breathing or swallowing " How would you know?!!

http://www.nlm.nih.gov/medlineplus/druginfo/meds/a682336.html#side-effects

I'm not doubting you are doing all you can do -and especially as a single

mother!!! I'm just saying it sounds to me that you are doing perhaps more than

you have to...and your son may be going through more than he has to. Maybe and

just perhaps -there could be a change in therapy for more progress, change in

diet, and that alone could resolve some of the issues and gradually he can be

weaned off the medications?

~~~~~~~~~~~~~~~~~~~~~~from your other message and then your message below that

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 " ...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.

~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~

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[Guest guest]

Hi ,

My three year old was also tested for a number of neurotransmitter diseases,

including a cerebral folate deficiency. The spinal tap came back normal, but

the reason we tested her was that she has a genetic deletion of the EIEE gene

(located at 9q34.11). We found another little girl who also has this deletion,

and has a folate deficiency. So, because so little is known about it, we figured

it was worth testing her. I will email the other little girls mom and see if

she minds if you contact her. The little girl is 12 and her mom is a WEALTH of

information! Email me privately (cedando@...) if you are interested.

Take care,

Colleen

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[Guest guest]

I don't have any words of help but I just want to say that I will pray for

you and your son to have strength to get through all you need to. God bless.

Kate

[Guest guest]

Hi ,

is now 8- what grade is he in in the regular classroom and what level is

he working on for which subject since you say they adjust it? Is he on level?

When you say experts can't figure out why he bumps his head all the time -did

you read the list of symptoms from the Dyspraxia Foundation I posted? " May

constantly bump into objects and fall over "

http://www.dyspraxiafoundation.org.uk/services/gu_symptoms.php I mean here in

the US apraxia and dyspraxia are used interchangeably and some have issues more

in speech and some more in the body -but typically there are areas in both

speech and body. may have more severe dyspraxia in the classic

dyspraxia definition not used much here in the US -but again that can be found

in this link http://www.dyspraxiafoundation.org.uk/services/dys_glance.php

Since you have traveled to so many and they can't figure it out -if you can I

recommend you take him to see my co author of The Late Talker book Dr. Marilyn

Agin who is in NYC as she is a neurodevelopmental pediatrician, was Medical

Director of Early Intervention in NY for a decade, and was an SLP for seven

years prior to medical school. She is extremely knowledgeable about autism and

apraxia and other conditions and she also is no so quick to put kids on drugs

-and has knowledge about nutrition including fish oils and NV. Here's Dr. Agin's

website http://www.dbpny.com If you were my sister -I'd say " GO!!! " But I

don't know you -so can only suggest and say " GO!!! " (if you can afford to that

is)

About the medications -there is a reason I asked -because I believe your child

is on so many I believe it's highly important for you to put together in a

simple way that you can hand to each doctor a list of each medication -what age

was when it was prescribed and why as far as diagnosis. You want it

just a list- simple and easy to note.

Even though you believe each doctor has all of your child's medical records they

are all busy and some things may be missed -with this many meds it's a good idea

to point this out (and get a second opinion) to each new doctor you take him to

so it's all in one place on one sheet -not just the list but age and reason each

for each.

You provided the reason for the double dosage of Prevacid- and the seizure med

after that but didn't state age each started and didn't put any information

about the other drugs.

So not that you have to share it here if you don't want to -but to the best of

your knowledge for the professionals you will be seeing in Atlanta or any others

-put together the list of all of the medications is currently taking.

On one page try to write out what age were each prescribed and by who? (dosage

if you recall)

Focalin http://www.drugs.com/focalin.html for ADHD

Clonidine http://www.drugs.com/clonidine.html for insomnia

Depakote http://www.drugs.com/depakote.html for seizures

Prevacid http://www.drugs.com/prevacid.html for acid reflux after having the

surgical procedure nissen fundoplication

http://www.webmd.com/heartburn-gerd/fundoplication-surgery-for-gastroesophageal-\

reflux-disease-gerd for acid reflux

And most recently added

Leucovorin http://www.nlm.nih.gov/medlineplus/druginfo/meds/a682336.html for his

just diagnosed cerebral folate deficiency

(and again below from the New England Journal of Medicine it appears the folic

acid is better than the Folinic acid -and no side effects)

All drugs, both OTC and prescription, have side effects. In my area one healthy

49 year old dad of 2 just died from a toothache from taking OTC pain killers for

2 weeks to save money from going to the dentist since he didn't have insurance

http://www.wptv.com/dpp/news/region_martin_county/palm-city-man-dies-after-takin\

g-too-many-otc-pain-relievers

Again to me it sounds like your child has severe global apraxia and dysphagia

which from what I've read the dysphagia and acid reflux are related and may be

the base of all of 's issues.

We know today nutritional deficiencies alone can lead to issues and clearly your

child has severe feeding issues which need to be addressed. But nutritional

deficiencies together with over medication if that is what is going on, then you

need to add side effects of the drugs on top.

Again this study from the New England Journal of Medicine I found easily on this

probably not too common condition cerebral folate deficiency found that a simple

daily vitamin intake of 400 mcg of folic acid daily " completely recovered " a

child with cerebral folate deficiency that previous to the folic acid intake had

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

I'd have the doctors compare the Leucovorin to the 100 percent all food natural

NV which contains 400 mcg of folic acid through food which is the purest form of

supplementation. (per 2 scoops which is what 's dosage would be

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

info for the doctors http://pursuitofresearch.org/find-a-professional/ ) Also

because we are seeing tremendous gains in many of the areas that has

delays in currently as you can read here

http://pursuitofresearch.org/pursuit-of-research/ and

http://pursuitofresearch.com/2010/11/22/is-nutriiveda-creating-a-paradigm-shift-\

in-treatment-of-speech-impairments/

Again I believe you need to secure what is the root diagnosis to secure

appropriate therapies. Who did you see in Boston by the way? I LOVE Dr. Martha

Herbert http://www.marthaherbert.com/biography1.html or

http://www.massgeneral.org/neurology/research/researchlab.aspx?id=1260 and not

just because she gave my book The Late Talker an awesome review She's an out

of the box doctor -very respected in medicine and one who is very knowledgeable

about nutrition as well. She's considered an autism authority -and that's the

best professional to go to if you want an appropriate diagnosis as well -one who

knows what autism is -and isn't- so you again can get an appropriate diagnosis

for . See who she would recommend if she doesn't see patients!

I mean talk about out of the box...Dr. Herbert wrote this article over TEN years

ago!!! http://www.biotech-info.net/exposed.html

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