Re: Intro, and boy do I have questions..

[Guest guest]

And don't forget even if the lactic acid and all other tests come out as

" normal " that does not mean she does not have a mitochondrial disorder. Many

times this happens, any on this list to testify to that. S.

Re: Intro, and boy do I have questions..

>

>

>>

>>Ok having an elevated lactic acid is a pretty good sign of that she may

>have

>>a Mito disorder or a pretty good sign that she may not? Sorry, I am still

>in

>

>

>That she may have a mito disorder. I'll tell you what a couple of really

>good sites to get the basics are: www.umdf.org and

>www.geocities.com/Heartland/Meadows7865 . The first is the United

>Mitochondrial Disease Foundation and the second is Ken Hirsch who has a son

>with Complex I and III deficiencies - and he is also a pediatric

>hematologist/oncologist. Both have really good starting information

without

>getting you too far into the molecular biology of the disease!

>

>Take Care

>Kathy

>

>

>

>------------------------------------------------------------------------

>Having difficulty getting " in synch " with list members?

>http://www.onelist.com

>Try ONElist's Shared Calendar to organize events, meetings and more!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Tomi, did you get the Carnitore link I sent you? I hope so and it helped

answer some of your questions, it helped me. S.

Re: Intro, and boy do I have questions..

>From: KCorley309@...

>

>Tomi -

>

>Again, my understanding is very basic . . . but carnitine is substance that

>is needed for proper metabolism involving the mitochondria. Some people

with

>mito disorders are carnitine deficient. Others do not show as deficient in

>the lab tests, but respond positively to carnitine supplements, regardless.

>Several people on the list have been talking about the carnitine

supplements

>being of value regardless of whether a deficiency was documented.

>

>I am sure that others on the list can provide you with a lot more detail

>about how carnitine works . . .

>

>Kathy

>mom to and

>

>------------------------------------------------------------------------

>Are you hogging all the fun?

>http://www.onelist.com

>Friends tell friends about ONElist!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Tomi, did you get the Carnitore link I sent you? I hope so and it helped

answer some of your questions, it helped me. S.

Re: Intro, and boy do I have questions..

>From: KCorley309@...

>

>Tomi -

>

>Again, my understanding is very basic . . . but carnitine is substance that

>is needed for proper metabolism involving the mitochondria. Some people

with

>mito disorders are carnitine deficient. Others do not show as deficient in

>the lab tests, but respond positively to carnitine supplements, regardless.

>Several people on the list have been talking about the carnitine

supplements

>being of value regardless of whether a deficiency was documented.

>

>I am sure that others on the list can provide you with a lot more detail

>about how carnitine works . . .

>

>Kathy

>mom to and

>

>------------------------------------------------------------------------

>Are you hogging all the fun?

>http://www.onelist.com

>Friends tell friends about ONElist!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

Madison sounds very similar to my daughter . She is 9 and walked

at 5. She still does not really speak. We abandoned the testing much

earlier than you it seems, and she has only the diagnosis of " inborn error

of energy metabolism " but has been responsive to some supplements so we are

going to begin again (testing that is) after school is out.

>

>Yesterday we had our 2nd apt. with our new and much improved Neurologist!

He

>asked a bunch of questions and then mentioned testing for Mito. He ordered

>testing for Lactate Acid Pyruvate (LOL, sorry about the spelling!).

I guess Lactic acid (lactate) level and Pyruvate (pyruvic acid) level isn't

so important if the ratio of one to the other stays the same. Steph has

been 3-5 times normal in both, but since it's at the same time (thus the

ratio is ok) they don't get too excited about it.

>didnt get into it much but he also mentioned that we might want to do a

>muscle biopsy....My question is how do you test for Mito? Is it a muscle

>biopsy or blood work? Like I said I know nothing about this and after

Muscle biopsy is the way to test for mito as it identifies how much activity

there is in the mitochondria. It seems from hearing folks on the lists that

there are three or four places that will do fresh biopsies, and fresh muscle

will test significantly better than frozen muscle. Cincinnati and Atlanta

come to mind, and it seems that New York and San Diego might be good too. I

personally opted not to do it since we ruled out anything that there is

known treatment options, and we can try everything else (supplements)

ourselves since experts differ on what supplements work for what.

You're in the best place to get those questions answered as there are

hundreds here who have gone before you. Welcome, and glad you came!

Kathy

[Guest guest]

Kathy and all,

Thanks for the warm welcome!! Now I have a dingdong question....what are some

of the symptoms that would make a doctor suggest Mitro? Is there certain

diagnostic criteria? All I can think of for Madison is low tone and ataxia

and those are symptoms to hundreds of syndromes. What kind of doc suggested

that you test for Mitro?

thanks for everyone's input and patience!

Tomi

mom to Madison 3.3 undiagnosed

kansas

[Guest guest]

Hi Laurie,

I don't mean to dispute you here , but with regards to supplements, I

would be very careful about giving them without a doctor following it. My

kids have a mito disorder, yet they take no supplements because they don't

appear to need anything. Sometimes supplements can cause more harm than

good. And sometimes the harm isn't noticable unless you get blood tests. I

do agree supplements can be quite useful for alot of people, but someone new

to the mito world might not fully understand what is involved.

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

[Guest guest]

Hi Laurie,

I don't mean to dispute you here , but with regards to supplements, I

would be very careful about giving them without a doctor following it. My

kids have a mito disorder, yet they take no supplements because they don't

appear to need anything. Sometimes supplements can cause more harm than

good. And sometimes the harm isn't noticable unless you get blood tests. I

do agree supplements can be quite useful for alot of people, but someone new

to the mito world might not fully understand what is involved.

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

[Guest guest]

Hi...

Another place that fresh muscle biopsies are done is Philadelphia. The

work is done at St. 's Hospital for Children, but the surgery

can be done at some of the other hospitals in Philly. I just had a

biopsy and am awaiting full results (which will still take a few weks

more). The surgery was done at Hahnemann U. Hosp, and by

prearrangement, the tissue was transported to St. immediately.

They had to have it before 10 AM so the procedure was scheduled at 8:30

AM.

I do not know how St. compares to the other centers around the

country, but someone else on the list might.

Merril ....an older mito

[Guest guest]

Tomi-

It seems like there are every description of people who have mito. Her features

would not rule it out or

confirm it. Mito is usually tested with a muscle biopsy. I would suggest a fresh

muscle biopsy, since

they are more accurate. I had 4 frozen biopsies before the fresh one that gave

me a diagnosis. If her

doctor believes she had mito, you could also treat without having a definite

diagnosis. Treatment is

usually the use of suppliments - CoQ10, vit. C, vit. E and the prescription

Carnitore. It depends on

which doctor you see as to which suppliments and the amounts they recommend.

Hope this gets you started.

Laurie

> My name is Tomi and my daughter is Madison. Where do I start.....Madison is

> 3.3 years and is severely Dev Delayed (crawled at 22months does not walk but

> is cruising furniture), has no speech, does not sign point or gesture. She

> has been tested for Angelman Syndrome, Syndrome, -Magenis

> Syndrome, Kabuki Syndrome, ID 15, Telomere deletion on 22q and all testing

> for these syndromes have come back normal. All normal metabolic testing also

> except she did have slightly elevated Lactate Acid when she was 13 months.

> The doc said normal was between .5 and 2.2 and Madison's was 2.8. At that

> time they said nothing to worry about.

>

> Madison also has some subtle dysmorphic features...like epicanthal eye folds,

> low hair line, narrow forehead, wide mouth with wide spaced teeth, full face,

> short neck, short stature, narrow small hands and feet, finger tip pads...and

> so on. Really these features are hard to notice to the untrained eye...but

> they are there. She also is ataxic, low tone, some autistic characteristics

> (spinning objects, arm flapping), behavioral issues, sensory problems and

> horrible fine motor skills. She test at about the 6 month level in speech, 10

> month level in gross motor, 6 month level in fine motor and 10 month level

> cognitively. She understands some of what we say, but it is hard to tell.

> Because of these features her Geneticist thinks she has a syndrome....but her

> Neuro thinks not necessarily and that is what brings us here.

>

> Yesterday we had our 2nd apt. with our new and much improved Neurologist! He

> asked a bunch of questions and then mentioned testing for Mito. He ordered

> testing for Lactate Acid Pyruvate (LOL, sorry about the spelling!). He really

> didnt get into it much but he also mentioned that we might want to do a

> muscle biopsy....My question is how do you test for Mito? Is it a muscle

> biopsy or blood work? Like I said I know nothing about this and after

> checking out a few web sites I'm even more confused! And since she has all of

> the " syndrome " like characteristics is this even necessary? Do children with

> Mito disorders have dysmorphic features? I guess what I'm saying is I dont

> want to start the research mode if it doesn't even come close to fitting my

> daughter. When I start researching something....I never stop! I can tell you

> everything you would ever want to know or not want to know about the

> syndromes she has been tested for! Thanks for listening...sorry it was so

> long! Any ideas, opinions or questions would be great!!

>

> Tomi,

> mom to Madison 3.3

> 8,

> 5,

> Will the wild man 14 months

> kansas...............

[Guest guest]

Kathy writes:

<< Actually the elevated lactic acid is a pretty good sign. >>

Kathy,

Ok having an elevated lactic acid is a pretty good sign of that she may have

a Mito disorder or a pretty good sign that she may not? Sorry, I am still in

Mito 101 and have not yet passed my exam! LOL!! And like your daughter Kathy,

Madison is globally delayed and progressing in snail motion.

Tomi

mom to Madison 3.3 undiagnosed....but a real sweetheart, 8 and

faithful, 5 and full of life, Will the man 14 months and wife to

my best friend.

Wichita, Kansas

[Guest guest]

In a message dated 5/15/99 10:59:05 AM Eastern Daylight Time,

KuriousMom@... writes:

<< Ok having an elevated lactic acid is a pretty good sign of that she may

have

a Mito disorder or a pretty good sign that she may not? Sorry, I am still in

Mito 101 and have not yet passed my exam! LOL!! >>

I haven't passed 101 yet, just started a couple of days before you did,

really! But it is a pretty good sign that it may be mito. You will get it .

.. . there is alot of information and it is very complex, but you seem to be

doing the right things to seek out the information! Has anyone given you

links to resources on the net?

Kathy

mom to and

[Guest guest]

>

>Kathy and all,

>

>Thanks for the warm welcome!! Now I have a dingdong question....what are

some

>of the symptoms that would make a doctor suggest Mitro? Is there certain

>diagnostic criteria? All I can think of for Madison is low tone and ataxia

>and those are symptoms to hundreds of syndromes. What kind of doc suggested

>that you test for Mitro?

Actually the elevated lactic acid is a pretty good sign. Essentially the

mitochondria are the part of the cell that processes the food/fuel into

energy and gives the cell the ability to do what it does - conductivity if

it's a nerve cell, strength for a muscle cell, heart, liver, brain etc.

With mito disease the delay is more global than it would be for say, mental

retardation due to lack of oxygen at birth or cerebral palsy which is often

from brain damage. In fact the very consistancy of delays seems to say that

it's something in every cell in the body, not just the brain. I always felt

that Steph's diagnosis would really depend on what doctor she saw - the

autism guys saw autism, the neuros saw mental retardation, the orthopedic

docs saw cerebral palsy. In fact, it was all - and none. She's globally

developmentally delayed and globally moving forward at a snails pace. The

elevated lactic acid says she's not burning her " fuel " cleanly - like a car

with one bad cylinder. There is gas in her exhaust - which says the engine

isn't firing well - the energy plants in the cells are the mitochondria!

Kathy

[Guest guest]

In a message dated 5/15/99 8:29:43 AM Pacific Daylight Time,

KCorley309@... writes:

<<

I haven't passed 101 yet, just started a couple of days before you did,

really! But it is a pretty good sign that it may be mito. You will get it

..

. . there is alot of information and it is very complex, but you seem to be

doing the right things to seek out the information! Has anyone given you

links to resources on the net?

>>

Kathy,

Ya I have been given some great resources....now I just need about 4 hours of

uninterrupted time to sit and dig!! Oh...I just received in the mail orders

for testing to be done next week for Lactic Acid Pyruvate (hers was done 2.5

years ago) and Acyl Carnitine Profile. I know what the Lactic Acid part is

but what is the Acyl Carnitine profile?

XOXO,

Tomi clueless in Kansasssss

[Guest guest]

>

>Ok having an elevated lactic acid is a pretty good sign of that she may

have

>a Mito disorder or a pretty good sign that she may not? Sorry, I am still

in

That she may have a mito disorder. I'll tell you what a couple of really

good sites to get the basics are: www.umdf.org and

www.geocities.com/Heartland/Meadows7865 . The first is the United

Mitochondrial Disease Foundation and the second is Ken Hirsch who has a son

with Complex I and III deficiencies - and he is also a pediatric

hematologist/oncologist. Both have really good starting information without

getting you too far into the molecular biology of the disease!

Take Care

Kathy

[Guest guest]

Gees...I forgot the most important one (and now a word from our sponsor) :

www.imdn.org who sponsors this list also has info - plus a chat room. There

is a chat room at massachusetts general hospital but there seems to be some

problems with it lately. Every Sunday and Wednesday evening (9 eastern, 8

central, 7 mountain, 6 pacific) there is a chat where alot of the really

informaed regulars meet and can answer all your questions. They are all

really nice people for the most part (a couple of obnoxious troublemakers

come in from time to time but you can just ignore them). I think this

sunday we are going to try to use the IMDN room and maybe it will be easier.

Kathy

>That she may have a mito disorder. I'll tell you what a couple of really

>good sites to get the basics are: www.umdf.org and

>www.geocities.com/Heartland/Meadows7865 . The first is the United

>Mitochondrial Disease Foundation and the second is Ken Hirsch who has a son

>with Complex I and III deficiencies - and he is also a pediatric

>hematologist/oncologist. Both have really good starting information

without

>getting you too far into the molecular biology of the disease!

>

>Take Care

>Kathy

>

>

>

>------------------------------------------------------------------------

>Having difficulty getting " in synch " with list members?

>http://www.onelist.com

>Try ONElist's Shared Calendar to organize events, meetings and more!

>------------------------------------------------------------------------

>Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

[Guest guest]

In a message dated 99-05-14 21:25:53 EDT, you write:

<< I do not know how St. compares to the other centers around the

country, but someone else on the list might.

Merril ....an older mito >>

I have heard goo things about St. s in Pa. Seems to me that the

Barnett Center is located there.

Lynnie

[Guest guest]

In a message dated 99-05-14 21:25:53 EDT, you write:

<< I do not know how St. compares to the other centers around the

country, but someone else on the list might.

Merril ....an older mito >>

I have heard goo things about St. s in Pa. Seems to me that the

Barnett Center is located there.

Lynnie

[Guest guest]

In a message dated 99-05-14 23:10:30 EDT, you write:

<< Kathy and all,

Thanks for the warm welcome!! Now I have a dingdong question....what are

some

of the symptoms that would make a doctor suggest Mitro? Is there certain

diagnostic criteria? All I can think of for Madison is low tone and ataxia

and those are symptoms to hundreds of syndromes. What kind of doc suggested

that you test for Mitro?

thanks for everyone's input and patience!

Tomi

mom to Madison 3.3 undiagnosed

kansas

>>

Dear Tomi:

A UCSD Mito-specialist told me once that when three or more systems of the

body are disturbed, consider a mito. disorder!

The man who started (sent us for) the testing on our children was a

Geniticist, but testing can refered to a Metabolics Specialist,

Neurologist... and many more kinds of docs... it depends where their

interests lie.

Your in Kansis? The diagnostic Centers in San Diego, California and Atlanta,

Georga are about equal distance from you as the plane flys... and there is a

Center in New York. Dr. Coen in Ohio is very good, diagnosticly speaking,

too. Can you fly? You know there are free flights for people who need them

for medical testing and treatment!! Ask me if you need a lead.

Lynnie

[Guest guest]

In a message dated 99-05-14 23:10:30 EDT, you write:

<< Kathy and all,

Thanks for the warm welcome!! Now I have a dingdong question....what are

some

of the symptoms that would make a doctor suggest Mitro? Is there certain

diagnostic criteria? All I can think of for Madison is low tone and ataxia

and those are symptoms to hundreds of syndromes. What kind of doc suggested

that you test for Mitro?

thanks for everyone's input and patience!

Tomi

mom to Madison 3.3 undiagnosed

kansas

>>

Dear Tomi:

A UCSD Mito-specialist told me once that when three or more systems of the

body are disturbed, consider a mito. disorder!

The man who started (sent us for) the testing on our children was a

Geniticist, but testing can refered to a Metabolics Specialist,

Neurologist... and many more kinds of docs... it depends where their

interests lie.

Your in Kansis? The diagnostic Centers in San Diego, California and Atlanta,

Georga are about equal distance from you as the plane flys... and there is a

Center in New York. Dr. Coen in Ohio is very good, diagnosticly speaking,

too. Can you fly? You know there are free flights for people who need them

for medical testing and treatment!! Ask me if you need a lead.

Lynnie

[Guest guest]

In a message dated 99-05-15 09:51:46 EDT, you write:

<< The

elevated lactic acid says she's not burning her " fuel " cleanly - like a car

with one bad cylinder. There is gas in her exhaust - which says the engine

isn't firing well - the energy plants in the cells are the mitochondria!

Kathy >>

Nice Job, Kathy!! I love these word-pictures

Lynnie

[Guest guest]

In a message dated 99-05-15 09:51:46 EDT, you write:

<< The

elevated lactic acid says she's not burning her " fuel " cleanly - like a car

with one bad cylinder. There is gas in her exhaust - which says the engine

isn't firing well - the energy plants in the cells are the mitochondria!

Kathy >>

Nice Job, Kathy!! I love these word-pictures

Lynnie

[Guest guest]

In a message dated 99-05-15 10:59:05 EDT, you write:

<< Kathy,

Ok having an elevated lactic acid is a pretty good sign of that she may have

a Mito disorder or a pretty good sign that she may not? Sorry, I am still in

Mito 101 and have not yet passed my exam! LOL!! And like your daughter

Kathy,

Madison is globally delayed and progressing in snail motion.

Tomi >>

Our daughter, Amy is 22 years old. She had mildly eleavated Lactic Acid in a

test she had when she was 3 years old. Her levil has been normal ever since.

A High Lactic Acid levil is the symptom for Many of the mito-diseases, but

not ALL of the mito-diseases. Each of the different mito-disorders has

symptoms of their own. Many of the symptoms overlap and two members of the

same family who have a mito-disease can have intirely different symptoms.

Lynnie

Lynnie MOrgan

[Guest guest]

In a message dated 99-05-15 10:59:05 EDT, you write:

<< Kathy,

Ok having an elevated lactic acid is a pretty good sign of that she may have

a Mito disorder or a pretty good sign that she may not? Sorry, I am still in

Mito 101 and have not yet passed my exam! LOL!! And like your daughter

Kathy,

Madison is globally delayed and progressing in snail motion.

Tomi >>

Our daughter, Amy is 22 years old. She had mildly eleavated Lactic Acid in a

test she had when she was 3 years old. Her levil has been normal ever since.

A High Lactic Acid levil is the symptom for Many of the mito-diseases, but

not ALL of the mito-diseases. Each of the different mito-disorders has

symptoms of their own. Many of the symptoms overlap and two members of the

same family who have a mito-disease can have intirely different symptoms.

Lynnie

Lynnie MOrgan

[Guest guest]

Tomi -

Again, my understanding is very basic . . . but carnitine is substance that

is needed for proper metabolism involving the mitochondria. Some people with

mito disorders are carnitine deficient. Others do not show as deficient in

the lab tests, but respond positively to carnitine supplements, regardless.

Several people on the list have been talking about the carnitine supplements

being of value regardless of whether a deficiency was documented.

I am sure that others on the list can provide you with a lot more detail

about how carnitine works . . .

Kathy

mom to and

[Guest guest]

Tomi -

Again, my understanding is very basic . . . but carnitine is substance that

is needed for proper metabolism involving the mitochondria. Some people with

mito disorders are carnitine deficient. Others do not show as deficient in

the lab tests, but respond positively to carnitine supplements, regardless.

Several people on the list have been talking about the carnitine supplements

being of value regardless of whether a deficiency was documented.

I am sure that others on the list can provide you with a lot more detail

about how carnitine works . . .

Kathy

mom to and