Hi Anne, Re: thiamine responsive PDH

[Guest guest]

Hi Anne, I'm SO delighted to hear back from you. Sounds like you

have some GREAT docs and I'm so happy for you that you do!

It will be very interested to find out the results of your B vitamin

tests (as I'm sure YOU ARE!). Do you now what lab will be doing

them and whether the tests are straight serum or functional

level? The results of my SERUM level tests and my

FUNCTIONAL level tests in some of the B vitamins have been

quite different. If you need info to understand the differences, I

have something I can post the breifly explains the difference and

why one doc thinks that the functional tests are much more

reliable. From my experience, I agree with him.

<< I do not look sick

> except when I really crash, my strength is good but endurance

is very

> low and my heart races at the drop of a hat, literally if I am tired,

> I have developed a startle response that sends me into

tachecardia.>>

Sounds much like me!

<<> My B-12 and B-2 levels are the only ones we have tested

and they are

> low despite supplimentation, down to B-12 injections with a

very pure

> form of B-12 we ordered from a pharmecy in Georgia, I

developed huge

> welts when trying to take the injections.>>

Are you taking the cyanocobalamin formula or the

methycobalamin formula? I seem to remember that one tends to

give more reactions that the other........but I can't remember

which. I DO remember that, FOR ME. taking B12 im without

ALSO taking folic acid im to balance it out caused some

problems.

<< This week we are testing

> levels of all the B vitamins. My co-Q 10 levels are at the low

end

> of normal even with supplimentation so am increasing this.>>

All my B vitamins were low but 2 and 6. Co Q low, too. Q gel

helps a lot!!!

<< The big one is the complete intolerance of carbs, I have

> not been able to figure this out until reading your post. I have

> been on a gluten free diet for many years but now it seems all

carbs

> and anything with additives will do this to me. I swell up ,

> especially my hands and feet, which also turn red and become

hot,Iget

> clumsy, extremely tired (better than any sleeping pill), groggy,

> brain fog, constipation and neuropathy worsens, bladder

control

> problems, myocolonus worsens>>

Oh dear, I'm so sorry to read this . It sounds so sadly familiar. I

went gluten free first, then had to cut out as many carbs as I can.

I only eat the carbs in nuts and seeds now and a llittle bit of

apple and LOTS of butter, coconut oil and butter.

<<> How much success have you had in trying the protocol. Any

symptoms

> alleviated? >>

I am doing amazingly well, especially when I read about people

with outher kinds of mito. Everything is better if I follow my diet

and supplement protocol, and SWIFTLY MUCH WORSE worse if

I go off. The thiamine injections every 12 hours are CRITICAL for

me. There are a handful of other nutritional supplements that I

also consider semi critical: biotin, alpha lipoic acid, Carnitor,

Q-gel (SUGAR FREE only--the gels have sorbitol), MANGANESE,

Pantothenic Acid and niacinamide, plus a B complex injection

every 3 days. Most of these supplements are listed in the www.

e-medicine.com info on PDCD (Pyruvate Dehydrogenase

Complex Deficiency) . PDCD seems to be another name for the

same thing.

According to the genetic info from s Hopkins on PDH and

thiamine-reponsive PDH (well hidden on the www.umdf.org site

on the very bottom of the " Resource " page), the form I have is

well documented in the genetic data base and is one with one of

the best prognosies.

If you have questions, please let me know and I will try to

answer any I can . I will try to get in touch with the " mito mom "

with the t.r. PDH kids and see if we can pool info that you might

need. I had originally suggested that you contact me via e-mail,

but , because there may be others who may need the info, either

now, or later in the archives, I'll

try to keep as much info public on the boards as possible. I'm

not comfortable mentioning docs and protocols, in general,

especially not until I get her permission, or ask how she would

feel about going public.

Please know you and your daughter are in my thoughts and

prayers.

Anita

(thiamine -responsive PDH)