Re: Re: Cerebral folate deficiency continued

[Guest guest]

Hi ...It's !

My son will be 8 in May. He has been in some type of therapy since he was 9

months old, when we started with Easter Seals...which he continued with until he

entered the school district at age 3. He receives pt, ot, st through the school

and currently receives pt, ot, st, and vision therapy outside of school.

He has seen a gastroenterologist since he was about 4 months old because of

gastroesophogael reflux and the only way to clear up his esophogitis was with a

double dose of prevacid. He has had many endoscopies over the years. He has

always been very very very slim...and for two years he was on pediasure to try

to help him with calories because he was not gaining weight. That is when we

decided to go through with placing a g-tube (jan, 2010) and at that time he had

a fundoplication, hoping that it would help eliminate the reflux. At that time,

they also fixed a hiatal hernia that he had. During this past year, he was

weened off of prevacid so that we could see if the fundoplication was doing it's

job...but, his endoscopy in february showed mild esophogitis. So, he is back on

prevacid and we will revisit that in a month or so. The fact that he isn't

eating started long before he was on most of his medications.

When i took him to see a swallowing specialist and do a swallow study (several

years ago), they found that he aspirated thin liquids and they could see that he

had a very poor swallow....partly the oral apraxia, partly hypotonia, and partly

poor body awareness (he would overstuff his mouth and then sometimes

gag)...Immediately we started thickening his liquids. They also saw that his

tonsils were so big that they were touching each other....he has since had them

removed. The fact that he isn't eating started long before he was put on most

of his medications.

In Sept 2008 he had a grand mal seizure and then in Feb 2009 he had another one.

They put him on Depakote and check his levels regularly. He has not had a

seizure since. By summer, the neurologist is most likely going to try to ween

him off of the Depakote. (I'm happy and scared at the same time)

He sees three different pediatric neurologists, one that deals specifically with

metabolic issues and one that specializes in movement disorders. He sees an

orthopedist, a gastroenterologist, a cardiologist, a geneticist, two pts (one in

and one out of school), two ot's (one in and one out of school), two st's (one

in and one out of school), a swallowing specialist (who is also an slp), a

nutritionist, a developmental opthalmologist, and a behaviorist. (I'm sure

there are more too...just typing quickly..) They are all current with ALL

information.

He is in a regular ed classroom, but has a 1:1 aide with him...and has had one

since he entered the school district at age 3. They adjust his curriculum

according to his ability.

He has gone to Nemours/Dupont Hospital for children in Delaware for very

specific vestibular testing, he has had ENT's look at him for his balance

issues..locally, and in Boston. He does have the dyspraxia as far as

jumping...and doing specific gross motor activities (i.e. he used to have a

terrible time weaving in and out of cones, but after a TON of practice, he can

now do it)...but, he sometimes will stop dead in his tracks and hold on for dear

life...as though i just put him on the edge of a cliff...and then, when i hold

his hand, he is fine again. He has a very hard time knowing where his body is

in space...he used to bump his head EVERY time he would climb under the table.

We have seen several different geneticists when we went to a conference in TX

last year and they were all scratching their heads.

He is in constant motion. He has adhd. He used to have an irregular heartbeat

and therefore i was very nervous about putting him on any type of medication for

that. However, his pvc's have corrected themself; therefore, i felt more

comfortable about trying focalin. It has helped him immensely as far as

focusing in school...listening to the teacher...sitting still more than 30

seconds...(no exaggeration!). If he wasn't given the clonidine, it would

literally be midnight before he settled down for bed. He now gets about 11

hours of sleep a night and that helps him so much as he doesn't stop during the

day.

Thank you for the information about the muscle biopsy. I've looked up a ton

myself, but hadn't come up with that one. (I'm a gotta know kind of person!)

The Leucovorin and Vit B12 are given because his body does not convert the folic

acid itself down to the level that it needs to be to cross the blood/brain

barrier. That is why he is given the Leucovorin.

I'm sure that after we go to Atlanta, I will be a lot more informed. They say

that it will take about 12 weeks for the labwork to be done and for our local

neurometabolic neurologist to receive the report. So....sometime in July!

Thanks again! If you have anymore input, I am more than happy to hear it...I am

by no means an expert and I'm always looking to learn something new about my

little man.

[ ] Re: Cerebral folate deficiency continued

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.

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

=====

[Guest guest]

Awww thank you Kate...that is sweet and much appreciated!

Sent from my Verizon Wireless BlackBerry

[ ] Re: Cerebral folate deficiency continued

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