Pyruvate Dehydrogenase Deficiency Diagnose

[Guest guest]

HI,

My son was recently diagnosed with Pyruvate dehydrogenase

deficiency. It has been eight years looking for a diagnose. I was

wondering if other families had children with this diagnose and how

they were fairing. My son is on Topamax, depakote, zarontin,

clonzepam, and kloppin for seizure control. Carnitor because

depakote was depleting which has since doubled the dosage due to

diagnose. We are also starting B50 complex, co-enzyme q10, and alpha

lipoic acid. The medical staff has also talked about trying the

keogenic diet but since so far with much luck and praying we have

been able to feed him orally the dietician said most children on the

keogenic diet would need to be tube fed. I wonder how much better

will do being on the vitamins. Has anyone seen significant

results? He is at about a one year capability mentally and at about

18-24 month for gross motor skills. Feeding is always a big issue.

My hope would be that someday he would be able to communicate with

us - - Let us know if he is hungry, thirsty, tired etc but the

genetic doctor did not seem very hopeful.

Any advice or comments would be helpful.

('s mom)

[Guest guest]

I really have no advice on the diagnosis, sorry. I did notice how you wished to have communication with him someday. I know you mentioned his mental ability was low, but have you ever considered trying to teach him a few simple signs. My daughter is 2 and cannot speak well, orally, but she has basic comand signs. You can alter the signs to your sons abilites, and as long as your family understands who cares if it is ASL correct. There is alot of research showing children as young a six months being able to have some communication with there parents. It has been a blessing in our home, and has definatly helped with frustration on everybody's part. Best wishes

[Guest guest]

Sheldon has a tentative diagnosis of PDH deficiency. Levels in

his muscle biopsy were low but not in recent blood tests so we still

don't know exactly what's going on. He's only 2 1/2 so I'm not sure

how much help I can be. He also does not talk at all. He does know

some signs but doesn't use them to ask for things. I think that most

of the time he doesn't know when he's hungry or thirsty. He just had

his CPSE evaluation and his receptive language is at a 13-month level,

which is progress.

I think B1 is usually used for PDH Def. because it's the cofactor

for it, you should look into that. Sheldon is on Carnitor and B1, I

think the carnitor helps a lot but I don't know about the B1. We are

trying a high-fat diet but not ketogenic yet. I don't see that it's

helping him and it's hard to get him to eat high-fat foods. The UMDF

web site has info specific to PDH def. but it's pretty scary.

Does everyone out there with PDH def. have communication

problems?

HI,

My son was recently diagnosed with Pyruvate dehydrogenase

deficiency. It has been eight years looking for a diagnose.

I was

wondering if other families had children with this diagnose and

how

they were fairing. My son is on Topamax, depakote, zarontin,

clonzepam, and kloppin for seizure control. Carnitor because

depakote was depleting which has since doubled the dosage due to

diagnose. We are also starting B50 complex, co-enzyme q10, and

alpha

lipoic acid. The medical staff has also talked about trying

the

keogenic diet but since so far with much luck and praying we have

been able to feed him orally the dietician said most children on

the

keogenic diet would need to be tube fed. I wonder how much

better

will do being on the vitamins. Has anyone seen

significant

results? He is at about a one year capability mentally and at

about

18-24 month for gross motor skills. Feeding is always a big

issue.

My hope would be that someday he would be able to communicate with

us - - Let us know if he is hungry, thirsty, tired etc but the

genetic doctor did not seem very hopeful.

Any advice or comments would be helpful.

('s mom)

Please contact mito-owner with any problems or

questions.

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[Guest guest]

,

I don't know about the diagnoses, but have some advice on the

latter. Don't let the docs squash your hopes and dreams for your

son. Don't let them limit your life with him. My daughter ()

was not expected to live past two and she is now over 4. she didin't

walk until 2 (no one thought she ever would). She didn't say mom

until she was 2 1/2 and had limited communication skills. She is now

begininng to communicate and sometimes never stops talking (even if

we cannot always understand her). Is getting therapy? I

really beleive the bvits, carnitor, coq10, lipioc acid etc etc plus

PT,OT and ST have made all of the difference in . She does not

have seizures (knock on wood) so I don't know about that. You may be

surprised at what your son may accomplish in life- just in his own

time! 's mito doc (Cohen) is amazed everytime he sees her. He

just says whatever we are doing, to keep it up! Good luck and

welcome aboard!

Dawn

[Guest guest]

Hi--

My boys have a suspected pyruvate dehydrogenase deficiency--a very

thiamine responsive--and I mean VERY thiamine responsive. Thiamine

is the difference between talking and not talking, walking and not

walking. Thiamine can make a huge difference for some kids with this

deficiency. The more severely affected child takes 100mg thiamine 5-

6 times a day--any less and their is big changes. The less affected

twin takes 50 mg 5 times a day. We say a difference in the kids

within 2 days after starting the thiamine- my child started to play

again. These are huge doses of thiamine--we started out with smaller

doses and their blood levels did not raise after raising their doses--

they eat it up. Talk to your doc about a thiamine trial and

monitoring--B-50 just won't cut it. Niacin is also a biggy for my

kids--their is a fine line between helping them and hurting them (a

lot of side affects). Lipoic acid seems to help the less affected

twin. We encourage fat but don't do a Keto diet because the thiamine

seems to help them overcome the block. My boys are also extremely

fasting intolerant---they must eat every 2 hours (at night also) or

their is trouble the next day. We have only had the fibroblast

biopsy--showed complex 1 in the more affect child and not in the less

affected child --the thought is that the PDH is affecting the

complex. Unfortunately they can't confirm thiamine responive PDH

with a fibroblast biopsy so we will eventually have to do the muscle

biopsy.

COQ10 was also a biggy for my kids--they were extremely depleted.

I encourage you to talk to the doc about starting the vitamins

individually to see what is actually helping--and about getting

thiamine levels checked to see if they are rising---if they are not

that means it is helping and you need to increase the dose. Best of

luck--prayers to you and your family.

Kris

Cole and Zack

> HI,

>

> My son was recently diagnosed with Pyruvate dehydrogenase

> deficiency. It has been eight years looking for a diagnose. I was

> wondering if other families had children with this diagnose and how

> they were fairing. My son is on Topamax, depakote, zarontin,

> clonzepam, and kloppin for seizure control. Carnitor because

> depakote was depleting which has since doubled the dosage due to

> diagnose. We are also starting B50 complex, co-enzyme q10, and

alpha

> lipoic acid. The medical staff has also talked about trying the

> keogenic diet but since so far with much luck and praying we have

> been able to feed him orally the dietician said most children on

the

> keogenic diet would need to be tube fed. I wonder how much better

> will do being on the vitamins. Has anyone seen significant

> results? He is at about a one year capability mentally and at

about

> 18-24 month for gross motor skills. Feeding is always a big

issue.

> My hope would be that someday he would be able to communicate with

> us - - Let us know if he is hungry, thirsty, tired etc but the

> genetic doctor did not seem very hopeful.

>

> Any advice or comments would be helpful.

>

> ('s mom)