familial neuropathy & mito

[Guest guest]

Just thought I'd add that both can be seen together. All three of my

kids are presumed to have a type of familial neuropathy. My older

daughter was so severely affected that she was referred to NYUMC to the

Dysautonomia Clinic, to rule out Familial Dysautonomia. She carried the

diagnosis of Autonomic Dysfunction/Peripheral Neuropathy for years. Her

neuropathy/dysautonomia symptoms far outshadowed any metabolic ones for

many years. Then my younger child (6 years younger) was diagnosed with

CIDP and Complex IV deficiency. CIDP is a form of chronic neuropathy,

and she has a dysautonomia as well.. At that time, they decided that my

older daughter's was mitochondrial in origin as well.

I think that it is safe to say, that one (diagnosis) does not

automatically exclude the other.

Jeannine

[Guest guest]

Absolutely they can coexist--sorry if it sounded like I said something

different. I gather that 's neuropathy (hers is axonal, not

demyelinating) is what caused the neuro to consider mito to begin with.

It's just that according to Dr. Haas, she doesn't have anything else

that goes along with mito. Turns out she is not complex deficient, based

on the muscle biopsy. He did do carbo load testing to see if her lactic

acid went up abnormally. If I understood him right, if this didn't

happen, mito is pretty much ruled out. Her blood and spinal fluid

lactates done in the past have always been normal.

Did you get a genetic diagnosis for the neuropathy? We're trying to

decide if it's worth thousands of more dollars of tests when more than

40% don't fit any of the profiles, plus it doesn't help us with

treatment. I guess the good thing would be knowing who in the family has

an asymptomatic case so they can get genetic counseling.

We've been told that the girls' autonomic nerves can potentially be

affected, but so far, (who has the worse neuropathy) hasn't had

problems with that, but weirdly, my lesser affected daughter has bladder

issues. My sister had a long struggle with primary enuresis, so I hope

it is also something my daughter can be treated for or will outgrow.

Judith

familial neuropathy & mito

> Just thought I'd add that both can be seen together. All three of my

> kids are presumed to have a type of familial neuropathy. My older

> daughter was so severely affected that she was referred to NYUMC to

the

> Dysautonomia Clinic, to rule out Familial Dysautonomia. She carried

the

> diagnosis of Autonomic Dysfunction/Peripheral Neuropathy for years.

Her

> neuropathy/dysautonomia symptoms far outshadowed any metabolic ones

for

> many years. Then my younger child (6 years younger) was diagnosed

with

> CIDP and Complex IV deficiency. CIDP is a form of chronic neuropathy,

> and she has a dysautonomia as well.. At that time, they decided that

my

> older daughter's was mitochondrial in origin as well.

>

> I think that it is safe to say, that one (diagnosis) does not

> automatically exclude the other.

>

> Jeannine

>

>

>

[Guest guest]

Hi,

My son was admitted in to the hospital for a fat and then a carb load to

monitor lactate/pyruvate etc - on the fat load he showed no increase in

either but an interesting 'atypical' finding was that after ingesting

carbohydrate - his pyruvate continued to climb (it was checked every half

hour) to about 4 times the normal upper limit and then returned to

'normal' - the interesting part of this is that his lactic acid did not

increase - puzzled the metabolic doctor - his glucose level also stayed

within normal limits. We did a skin biopsy fpr pyruvate dehydrogenase

disorder but that came back negative.

Anyone else's child have elevated pyruvate under these or any other

circumstance without elevated lactic?

karen H

familial neuropathy & mito

>

>

> > Just thought I'd add that both can be seen together. All three of my

> > kids are presumed to have a type of familial neuropathy. My older

> > daughter was so severely affected that she was referred to NYUMC to

> the

> > Dysautonomia Clinic, to rule out Familial Dysautonomia. She carried

> the

> > diagnosis of Autonomic Dysfunction/Peripheral Neuropathy for years.

> Her

> > neuropathy/dysautonomia symptoms far outshadowed any metabolic ones

> for

> > many years. Then my younger child (6 years younger) was diagnosed

> with

> > CIDP and Complex IV deficiency. CIDP is a form of chronic neuropathy,

> > and she has a dysautonomia as well.. At that time, they decided that

> my

> > older daughter's was mitochondrial in origin as well.

> >

> > I think that it is safe to say, that one (diagnosis) does not

> > automatically exclude the other.

> >

> > Jeannine

> >

> >

> >

[Guest guest]

On the subject of one diagnosis not excluding another we have a very rare case.

My first daughter was diagnosis by liver biopsy with lysosomal storage disease.

We did do a muscle biopsy, but unfortunately it was ruined and unable to be

tested and we could not do another before she passed away.

Since that time by other daughter has gotten ill. Through liver biopsy it all

shows storage disease, but we were able to do a muscle biopsy on her and per Dr.

Haas says has mito DNA depletion syndome!! We have been told over and over that

two major diseases like this have rarely, if ever been found in the same child.

Talk about some major issues!! We sometimes don't know what is causeing what

and when to treat or not. It sure has caused some major confusion.

Sharon W.