PDCD Pyruvate Deficiency Questions!!

[Guest guest]

My 21/2 year old was just diagnosed due to her muscle biopsy

yesterday. We don't have all the details yet, but it is thought she

is in between an infantile and childhood onset. She has many

neurological symptoms/conditions. Is anyone on this list caring for

a child with this desease? Could you tell me about life expectancy,

progression of the desease? Anything you think I should know! I

would really appreciate it.

She has seizures, ataxia, hypermobility, auditory

retreival/processing trouble, weakness everywhere, very poor

eyesight, sensory difficulties ears, depth perception, temp control,

type of dystonia, benign hydrocephalus.

[Guest guest]

Our 3 1/2 year old son was diagnosed with PDH deficiency by

muscle biopsy a year ago. I don't know how many of your questions I

can answer but feel free to contact me any time. I know that if you

look in the right place on the umdf site they have at least one

article about pdh deficiency. Sheldon is pretty stable right now, he's

on carnitor, B1, C, Prevacid, and CoQ10.

How's your daughter's speech? I'm interested in how PDH affects

speech/communication since Sheldon doesn't talk at all. He does have

some signs and right now he is able to sign quite a bit but he loses

signs frequently.

My 21/2 year old was just diagnosed

due to her muscle biopsy

yesterday. We don't have all the details yet, but it is thought

she

is in between an infantile and childhood onset. She has many

neurological symptoms/conditions. Is anyone on this list caring

for

a child with this desease? Could you tell me about life

expectancy,

progression of the desease? Anything you think I should know!

I

would really appreciate it.

She has seizures, ataxia, hypermobility, auditory

retreival/processing trouble, weakness everywhere, very poor

eyesight, sensory difficulties ears, depth perception, temp

control,

type of dystonia, benign hydrocephalus.

Please contact mito-owner with any problems or

questions.

Yahoo!

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[Guest guest]

We have a child through foster care that has hydrocephalus so if you

want to talk further, let me know.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting,

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD,

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency, ...

Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), &

Marquis (3), Joey & (12 months) (some with Mito symptoms)

PDCD Pyruvate Deficiency Questions!!

>

>

>

> My 21/2 year old was just diagnosed due to her muscle biopsy

> yesterday. We don't have all the details yet, but it is thought she

> is in between an infantile and childhood onset. She has many

> neurological symptoms/conditions. Is anyone on this list caring for

> a child with this desease? Could you tell me about life expectancy,

> progression of the desease? Anything you think I should know! I

> would really appreciate it.

>

> She has seizures, ataxia, hypermobility, auditory

> retreival/processing trouble, weakness everywhere, very poor

> eyesight, sensory difficulties ears, depth perception, temp control,

> type of dystonia, benign hydrocephalus.

>

>

>

>

>

>

>

>

>

> Please contact mito-owner with any problems or questions.

>

[Guest guest]

Elie started talking at a normal age and has been talking well, her

speech has always been a little slurred, and is getting more slurred

lately. When everything is going haywire with her, we are hardly

able to understand her. Also, when she is having " episodes " of any of

her neurological symptoms she has gotten more non-verbal and whines

and cries instead of talks.

> Our 3 1/2 year old son was diagnosed with PDH deficiency by muscle

> biopsy a year ago. I don't know how many of your questions I can

> answer but feel free to contact me any time. I know that if you

look

> in the right place on the umdf site they have at least one article

> about pdh deficiency. Sheldon is pretty stable right now, he's on

> carnitor, B1, C, Prevacid, and CoQ10.

>

> How's your daughter's speech? I'm interested in how PDH affects

> speech/communication since Sheldon doesn't talk at all. He does

have

> some signs and right now he is able to sign quite a bit but he

loses

> signs frequently.

>

>

> >My 21/2 year old was just diagnosed due to her muscle biopsy

> >yesterday. We don't have all the details yet, but it is thought

she

> >is in between an infantile and childhood onset. She has many

> >neurological symptoms/conditions. Is anyone on this list caring

for

> >a child with this desease? Could you tell me about life

expectancy,

> >progression of the desease? Anything you think I should know! I

> >would really appreciate it.

> >

> >She has seizures, ataxia, hypermobility, auditory

> >retreival/processing trouble, weakness everywhere, very poor

> >eyesight, sensory difficulties ears, depth perception, temp

control,

> >type of dystonia, benign hydrocephalus.

> >

> >

> >

> >

> >

> >

> >

> >

> >Please contact mito-owner with any problems or

questions.

> >

> >

[Guest guest]

sorry i'm late in chiming in on this thread, but i've been swamped this week. My daughter has "partial" PDCD, meaning that her enzyme activity is low (functioning at 19% capacity) but we've not done the biopsy to get the official diagnosis. i think prognosis is at least partially dependent upon how poor the enzyme activity level is. Our doc just explained it to me like this: in PDCD, there is always a decreased amount of enzyme activity. "Normal" activity is anywhere from 40-100%; in fact a person can even function down to 10%. So i guess those are some Q's to start with.

ruth

mom to Mitch (nearly 10) and Lexi (nearly 7), both mito affected and my treasures