Infant son diagnosed with mito. disorder

[Guest guest]

My son had a muscle biopsy at 4 months due to severe hypotonia,

failure to thrive, tachypnea, and some other unexplained neurological

symptoms (poor eye movement, ankle clonus) as well as abnormal liver

function tests and unexplained dilation of his kidneys and major GI

problems (he is G-tube fed). I just learned two days ago that the

mitochondrial studies came back as being deficient in two areas (I'm

not sure which complexes were deficient, but there were two of them--

I want to say 2 and 4, but I need to get the report myself to verify

this; I was in shock when I heard as I completely expected the

results to be normal. Although there was a suspicion he had an

unknown metabolic disorder, no one told me anything about mito

disease). They actually repeated the test twice at the Mayo Clinic

to make sure that it wasn't a lab error, and the results were the

same.

My son's neurologist delivered this news in his typical fashion,

saying he wasn't sure whether a mitochondrial disorder was his

primary issue OR if another underlying issue was causing the

mitochondrial disorder (he stated reasons such as: Your son doesn't

have the typical small head of kids with mito. disorders, his

pyruvate has always been normal, he can hear). But I guess I am

confused because it seems to me that if the muscle biopsy confirmed

this diagnosis, doesn't he have it? I know there is a probability

that there is some huge unknown primary force causing my son's issues-

-including the deficient complexes in his mitochondria--but no one

seems to know what that is, and we have done ALL of the tests

possible.

I want to treat him as a kid with a mitochondrial disorder and begin

investigating vitamin therapy. I don't want to wait until he gets

worse or starts regressing. He is slowly getting there--he has done

great since getting the G-tube, and he just started holding up his

head at 6 months old, and we are working in physical therapy on

rolling & sitting. If there is anything I can do to improve his

situation, I want to.

I guess my question is: " Does the muscle biopsy confirm the

mitochondrial disorder? And what can we do to help my son be the

best he can be? " I know there is no cure, but are there any

treatments that help slow the progression of this disease or ease its

symptoms?

Thank you so much. I feel as if I have been thrust into a new world

here, and I am trying to get my footing.

[Guest guest]

I know of many children who don't have small heads and can hear. My pyruvate

is in the normal range, but the ratio with lactate is not normal. That is

usually more important than individual values.

One thing I might caution is working him too hard in therapy. It is good for

him if he isn't pushed to real fatigue. Once he learns to move around

himself, he will probably regulate him own activity. Supplements would

probably be good, but I wouldn't do it without a doctor's help. Just my

opinion.

laurie

>

> Reply-To:

> Date: Sun, 04 Apr 2004 16:14:35 -0000

> To:

> Subject: Infant son diagnosed with mito. disorder

>

> My son had a muscle biopsy at 4 months due to severe hypotonia,

> failure to thrive, tachypnea, and some other unexplained neurological

> symptoms (poor eye movement, ankle clonus) as well as abnormal liver

> function tests and unexplained dilation of his kidneys and major GI

> problems (he is G-tube fed). I just learned two days ago that the

> mitochondrial studies came back as being deficient in two areas (I'm

> not sure which complexes were deficient, but there were two of them--

> I want to say 2 and 4, but I need to get the report myself to verify

> this; I was in shock when I heard as I completely expected the

> results to be normal. Although there was a suspicion he had an

> unknown metabolic disorder, no one told me anything about mito

> disease). They actually repeated the test twice at the Mayo Clinic

> to make sure that it wasn't a lab error, and the results were the

> same.

>

> My son's neurologist delivered this news in his typical fashion,

> saying he wasn't sure whether a mitochondrial disorder was his

> primary issue OR if another underlying issue was causing the

> mitochondrial disorder (he stated reasons such as: Your son doesn't

> have the typical small head of kids with mito. disorders, his

> pyruvate has always been normal, he can hear). But I guess I am

> confused because it seems to me that if the muscle biopsy confirmed

> this diagnosis, doesn't he have it? I know there is a probability

> that there is some huge unknown primary force causing my son's issues-

> -including the deficient complexes in his mitochondria--but no one

> seems to know what that is, and we have done ALL of the tests

> possible.

>

> I want to treat him as a kid with a mitochondrial disorder and begin

> investigating vitamin therapy. I don't want to wait until he gets

> worse or starts regressing. He is slowly getting there--he has done

> great since getting the G-tube, and he just started holding up his

> head at 6 months old, and we are working in physical therapy on

> rolling & sitting. If there is anything I can do to improve his

> situation, I want to.

>

> I guess my question is: " Does the muscle biopsy confirm the

> mitochondrial disorder? And what can we do to help my son be the

> best he can be? " I know there is no cure, but are there any

> treatments that help slow the progression of this disease or ease its

> symptoms?

>

> Thank you so much. I feel as if I have been thrust into a new world

> here, and I am trying to get my footing.

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

> are not necessarily those of the list moderators. The author of this e mail is

> entirely responsible for its content. List members are reminded of their

> responsibility to evaluate the content of the postings and consult with their

> physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

> automatically moderated or removed depending on the severity of the attack.

>

>

>

>

[Guest guest]

I also don't fit the " look " of a person with mito. I was told that I

shouldn't be average weight for mito. I had a muscle biopsy to confirm

the diagnosis. Although some tests come back normal, it doesn't mean I

don't have it, according to a cardiologist who was researching

mitochondrial disorders. He said what one doctor considers " normal'

another doctor might consider it " abnormal " I hope you can find some

answers.

Smiles,

a

On Sun, 04 Apr 2004 16:14:35 -0000 " whitneywg " whitneywg@...>

writes:

My son had a muscle biopsy at 4 months due to severe hypotonia,

failure to thrive, tachypnea, and some other unexplained neurological

symptoms (poor eye movement, ankle clonus) as well as abnormal liver

function tests and unexplained dilation of his kidneys and major GI

problems (he is G-tube fed). I just learned two days ago that the

mitochondrial studies came back as being deficient in two areas (I'm

not sure which complexes were deficient, but there were two of them--

I want to say 2 and 4, but I need to get the report myself to verify

this; I was in shock when I heard as I completely expected the

results to be normal. Although there was a suspicion he had an

unknown metabolic disorder, no one told me anything about mito

disease). They actually repeated the test twice at the Mayo Clinic

to make sure that it wasn't a lab error, and the results were the

same.

My son's neurologist delivered this news in his typical fashion,

saying he wasn't sure whether a mitochondrial disorder was his

primary issue OR if another underlying issue was causing the

mitochondrial disorder (he stated reasons such as: Your son doesn't

have the typical small head of kids with mito. disorders, his

pyruvate has always been normal, he can hear). But I guess I am

confused because it seems to me that if the muscle biopsy confirmed

this diagnosis, doesn't he have it? I know there is a probability

that there is some huge unknown primary force causing my son's issues-

-including the deficient complexes in his mitochondria--but no one

seems to know what that is, and we have done ALL of the tests

possible.

I want to treat him as a kid with a mitochondrial disorder and begin

investigating vitamin therapy. I don't want to wait until he gets

worse or starts regressing. He is slowly getting there--he has done

great since getting the G-tube, and he just started holding up his

head at 6 months old, and we are working in physical therapy on

rolling & sitting. If there is anything I can do to improve his

situation, I want to.

I guess my question is: " Does the muscle biopsy confirm the

mitochondrial disorder? And what can we do to help my son be the

best he can be? " I know there is no cure, but are there any

treatments that help slow the progression of this disease or ease its

symptoms?

Thank you so much. I feel as if I have been thrust into a new world

here, and I am trying to get my footing.

Medical advice, information, opinions, data and statements contained

herein are not necessarily those of the list moderators. The author of

this e mail is entirely responsible for its content. List members are

reminded of their responsibility to evaluate the content of the postings

and consult with their physicians regarding changes in their own

treatment.

Personal attacks are not permitted on the list and anyone who sends one

is automatically moderated or removed depending on the severity of the

attack.

[Guest guest]

I'm very sorry that your son is so sick. It sounds like you're

persuing everything possible on his behalf so keep up the good

work ! Yes, a biopsy can confirm a mitochondrial disease, but a

negative biopsy result doesn't mean he doesn't have it. Mito can

effect certain organs / muscles and not others. It can also effect

only one muscle or organ...therefore, unless the biopsy sample is

taken from a muscle or organ that is directly effected you'll end up

with a normal result. For example, if it's only the heart or brain

they'll likely miss it because they don't typically biopsy those

areas. Usually, they take samples from large muscles such as the

thigh, calf or bicep.

There are many blood labs to check for specific deficiencies however

these too can show normal values despite your child being very

sick. Most important is that you continue to follow up with the

docs. Mito patients are treated for symptoms and secondary diseases

or conditions. This would be the same treatments that would be used

in the general population, such as pacemakers or meds for heart

problems or respirators / ventilators for breathing problems. Mito

patients tend to have problems with the organs and muscles that

require the most amount of energy to maintain (heart & brain at the

top of the list). Nutritional supplements should only be used under

a doctors advice since they are not all safe.

Best of luck with your son,

bug

[Guest guest]

I cannot say for sure, but I believe if the muscle biopsy is positive that means

you do have a mito disesase. In myself and my son ours were confirmed by a

blood test, my sister had the muscle biopsy.

As far as normal--My son and I do not fit the " normal " definition. We are both

heavier, not small. My sister and mother were short and petite.

I would start the vitamin cocktail now--get help from your doctor as to what

portions of it you can try. As my sisters husband said about their 5 year old

son back in 1997--they are vitamins, not illegal drugs. Also, vitamins take a

while to get into your system and work--that was the problem with my sister.

So, the sooner you start, the better chance he will have.

Janet Sample

Infant son diagnosed with mito. disorder

> My son had a muscle biopsy at 4 months due to severe hypotonia,

> failure to thrive, tachypnea, and some other unexplained neurological

> symptoms (poor eye movement, ankle clonus) as well as abnormal liver

> function tests and unexplained dilation of his kidneys and major GI

> problems (he is G-tube fed). I just learned two days ago that the

> mitochondrial studies came back as being deficient in two areas (I'm

> not sure which complexes were deficient, but there were two of them--

> I want to say 2 and 4, but I need to get the report myself to verify

> this; I was in shock when I heard as I completely expected the

> results to be normal. Although there was a suspicion he had an

> unknown metabolic disorder, no one told me anything about mito

> disease). They actually repeated the test twice at the Mayo Clinic

> to make sure that it wasn't a lab error, and the results were the

> same.

>

> My son's neurologist delivered this news in his typical fashion,

> saying he wasn't sure whether a mitochondrial disorder was his

> primary issue OR if another underlying issue was causing the

> mitochondrial disorder (he stated reasons such as: Your son doesn't

> have the typical small head of kids with mito. disorders, his

> pyruvate has always been normal, he can hear). But I guess I am

> confused because it seems to me that if the muscle biopsy confirmed

> this diagnosis, doesn't he have it? I know there is a probability

> that there is some huge unknown primary force causing my son's issues-

> -including the deficient complexes in his mitochondria--but no one

> seems to know what that is, and we have done ALL of the tests

> possible.

>

> I want to treat him as a kid with a mitochondrial disorder and begin

> investigating vitamin therapy. I don't want to wait until he gets

> worse or starts regressing. He is slowly getting there--he has done

> great since getting the G-tube, and he just started holding up his

> head at 6 months old, and we are working in physical therapy on

> rolling & sitting. If there is anything I can do to improve his

> situation, I want to.

>

> I guess my question is: " Does the muscle biopsy confirm the

> mitochondrial disorder? And what can we do to help my son be the

> best he can be? " I know there is no cure, but are there any

> treatments that help slow the progression of this disease or ease its

> symptoms?

>

> Thank you so much. I feel as if I have been thrust into a new world

> here, and I am trying to get my footing.

>

>

>

>

>

> Medical advice, information, opinions, data and statements contained herein

are not necessarily those of the list moderators. The author of this e mail is

entirely responsible for its content. List members are reminded of their

responsibility to evaluate the content of the postings and consult with their

physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

>

>

[Guest guest]

There is a common misconception that vitamins are good for you. Not

all of them are and some are downright dangerous to certain

individuals. Please make sure you get the advice of your son's

doctor before starting anything. You can do more harm than good

sometimes even with the best intentions. The FDA (Food and Drug

Administration) does not regulate supplements, therefore there can

be inconsistencies between brands. Also, since the FDA doesn't

regulate them they don't have the same kind of information on them

such as side-effects and dosages as they would for regulated

medications. I'd be concerned about someone offering you advice to

just start taking them because they aren't " illegal drugs. " Have

you ever heard of Ephedra or Fen-Phen ? This was considered

a " natural " supplement too and it killed people. Others cause

serious heart, liver or kidney problems which are irreversible and

even fatal to some. A doctor can help you make the proper choices

on which ones may be more beneficial to your son. The information I

received was that only 20% of mito patients benefit from

the " cocktail. "

bug

[Guest guest]

I want to clarify what I was saying about the vitamins not being " illegal

drugs " . Of course you should get a doctors advice. I was referring to my

brother in law and my nephew and also my son taking the mito cocktail

without having an official diagnosis but showing signs of mito. My sister

was on the mito cocktail as well as an experimental drug DCA. The mito

cocktail was prescribed for her son by the same doctor who diagnosed her

with melas. Her husband did not want her son tested because of possible

legal issues later on with getting life insurance. My nephew definitely has

melas to some degree as he is smaller than my 11 year old son and is now 13

years old, he also has many health problems.

My son started taking the qgel about a year ago--should have started him

sooner. We went from February to October almost every two weeks with very

bad constipation, xrays, stimulants. Had a referral to a " specialist " at

the university hospital 2 hours away. They only prescribed same diet and

stimulants that were sure to help. Finally I took him to the doctor who

diagnosed me and my sister two hours away in Milwaukee. That is when we

started the Qgel and took the blood test for MELAS. MELAS was confirmed in

January a year ago. My son does not have constipation problems now since

starting the Qgel except when I go to work early and he forgets to take it

for two or three days in a row.

Well, just wanted to clarify that. I am leary of most supplements also and

generally do not take them unless they are recommended by my gp or the melas

doc in Milwaukee.

JAnet Sample

Re: Infant son diagnosed with mito. disorder

> There is a common misconception that vitamins are good for you. Not

> all of them are and some are downright dangerous to certain

> individuals. Please make sure you get the advice of your son's

> doctor before starting anything. You can do more harm than good

> sometimes even with the best intentions. The FDA (Food and Drug

> Administration) does not regulate supplements, therefore there can

> be inconsistencies between brands. Also, since the FDA doesn't

> regulate them they don't have the same kind of information on them

> such as side-effects and dosages as they would for regulated

> medications. I'd be concerned about someone offering you advice to

> just start taking them because they aren't " illegal drugs. " Have

> you ever heard of Ephedra or Fen-Phen ? This was considered

> a " natural " supplement too and it killed people. Others cause

> serious heart, liver or kidney problems which are irreversible and

> even fatal to some. A doctor can help you make the proper choices

> on which ones may be more beneficial to your son. The information I

> received was that only 20% of mito patients benefit from

> the " cocktail. "

>

> bug

>

>

>

>

> Medical advice, information, opinions, data and statements contained

herein are not necessarily those of the list moderators. The author of this

e mail is entirely responsible for its content. List members are reminded of

their responsibility to evaluate the content of the postings and consult

with their physicians regarding changes in their own treatment.

>

> Personal attacks are not permitted on the list and anyone who sends one is

automatically moderated or removed depending on the severity of the attack.

>

>

[Guest guest]

Your child is eligible for services from the MDA if his muscles are involved.

Mito diseases fall under their umbrella of 40 neuromuscular disorders. You can

find out more information at

http://www.mdausa.org

Alice

We mostly notice his muscles, which I suppose are just more obvious to us. I

am not sure if I should expect this to change or not.