RE: Qs re: Suspected mito and Clinical Dx of mito

[Guest guest]

Hi Shayna,

You bring up a lot of good questions which have such individualized answers.

For me, having a " clinical " diagnosis hasn't made too much of a difference

regarding how my doctors treat the mito. They will ask from time to time how a

diagnosis was made and I tell them that my labwork, skin biopsy and other

testing strongly point toward mito but the muscle bx was inconclusive. They

seem to accept this for the most part. If they question me about it, I give

them

the protocol that my mito doctor has written up for me, explaining how mito

disease presents in me. His phone # and pager # are on there so if they have

any further questions, they can always call him. I think the key to this is

having a doctor who will back up the diagnosis if other doctors start to

question it. My mito doctor feels very strongly that I have mitochondrial

disease

despite the negative biopsy and I have heard him say this about other

patients, as well. If your other doctors really question the diagnosis but this

is

the diagnosis that the neurologist feels strongly about then maybe you need

to find doctors who are more supportive of you....not always easy to do, but I

think having a good team really matters.

Malisa

In a message dated 1/12/2006 10:40:19 A.M. Eastern Standard Time,

happyclam8@... writes:

As some of you know, at the moment I'm a " suspected mito " person, or,

as my neurogeneticist put it, " highly likely. " I will get my biopsy

results in 2 weeks. I'm wondering how I might work with negative

results if my doctor still believes I have mito anyway and wants to

treat me as if I do. This possibility has raised a few questions for

me and I wonder if some of you who have " suspected mito " or a

" clinical diagnosis " of mito could respond to them:

Do you feel that it makes sense to act as if you have mito even if you

are uncertain? (E.g. by taking the mito cocktail, avoiding certain

meds and anesthesias, etc.)

Do you feel in your heart of hearts that you have mito even though lab

evidence is inconclusive?

Does the lack of an absolutely definitive diagnosis pose problems when

dealing with doctors, non-mito specialists, and/or emergency room

visits? If so, how do you handle that?

Does the lack of an absolutely definitive diagnosis create social

difficulties--e.g. with friends or family not taking you seriously or

doubting you?

What do you tell people who you meet socially when they ask, " What is

your illness? "

I'd really appreciate your responses. Perhaps it will help me be more

psychologically prepared for whatever I wind up finding out in 2 weeks.

Best to all,

Shayna

[Guest guest]

Shayna

I think that these are things that you have to decide on your own as

the person you are, but will give you what I have done.

I went almost 2 years before getting mito results and went for several

years before that with a diagnosis of metabolic myopathy, unspecified.

I just told people I had a form of muscular dystrophy or a

neuromuscular disease. Many people who had been told still thought I

had MS. I decided that it really didn't matter as long as they

realized something was wrong.

I think taking the supplements is a must (just my opinion) as they are

basically anti-oxidentss which help the body to stay healthy and slows

the aging process.

I think dealing with doctors and hospitals is so dependent on the

doctor. I try not to be pushy, unless it comes to things like " do not

give me Ringers Lactate " . I ask that my charts be labeled with

Propafol and Ringers as allergies on the front of the folder, along

with my actual medication allergies. I live in a county that has only

one hospital, so having hospitals co-operate was easy. Getting a

report from any doctor who says that you have suspected mito is

important to getting by some of the medical roadblocks. I have also

found that having a well-organized notebook of reports, labs and other

tests in hand helps them take me more seriously.

I hope this helps some, but even more, I hope you get the answers you

need from the biopsy. I think it is important that you are prepared

for either answer. Also be prepared that you will probably go through

many emotions - positve and negative when you get the results.

Hugs,

laurie

> As some of you know, at the moment I'm a " suspected mito " person, or,

> as my neurogeneticist put it, " highly likely. " I will get my biopsy

> results in 2 weeks. I'm wondering how I might work with negative

> results if my doctor still believes I have mito anyway and wants to

> treat me as if I do. This possibility has raised a few questions for

> me and I wonder if some of you who have " suspected mito " or a

> " clinical diagnosis " of mito could respond to them:

>

> Do you feel that it makes sense to act as if you have mito even if you

> are uncertain? (E.g. by taking the mito cocktail, avoiding certain

> meds and anesthesias, etc.)

>

> Do you feel in your heart of hearts that you have mito even though lab

> evidence is inconclusive?

>

> Does the lack of an absolutely definitive diagnosis pose problems when

> dealing with doctors, non-mito specialists, and/or emergency room

> visits? If so, how do you handle that?

>

> Does the lack of an absolutely definitive diagnosis create social

> difficulties--e.g. with friends or family not taking you seriously or

> doubting you?

>

> What do you tell people who you meet socially when they ask, " What is

> your illness? "

>

> I'd really appreciate your responses. Perhaps it will help me be more

> psychologically prepared for whatever I wind up finding out in 2 weeks.

>

> Best to all,

> Shayna

>

>

>

>

>

>

>

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>

>

>

>

>

[Guest guest]

Hi Shayna, You're wise to think ahead a little and help prepare yourself

for absorbing the news, whichever way it goes. I'll just add a few comments

to the other responses you've had.

> Do you feel that it makes sense to act as if you have mito even if you

> are uncertain? (E.g. by taking the mito cocktail, avoiding certain

> meds and anesthesias, etc.)

If you benefit and if your doctor still believes you fit the mito diagnosis

in spite of negative tests, it makes sense to continue.

> Do you feel in your heart of hearts that you have mito even though lab

> evidence is inconclusive?

I've seen enough of the printed technical talk to know that most experts do

not believe our current testing picks up all cases of mito. These diseases

are too variable and complex to pin down easily and the science of

mitochondrial disease is too young to be infallible. If your history fits

and your doctor still believes you have some form of mitochondrial disease,

it would probably give you more peace of mind to accept this as truth, even

though not scientifically proven.

> Does the lack of an absolutely definitive diagnosis pose problems when

> dealing with doctors, non-mito specialists, and/or emergency room

> visits? If so, how do you handle that?

I believe a confirmed diagnosis makes the system more user-friendly. But if

your doctor supports the diagnosis, that will go a long way toward

minimizing these problems. For example, having a written protocol or letter

from your doctor to take to ER or to referrals to other doctors will

generally insure that you are taken seriously.

> Does the lack of an absolutely definitive diagnosis create social

> difficulties--e.g. with friends or family not taking you seriously or

> doubting you?

It may, depending on their personal attitudes toward illness in general.

Just remember that how they react says more about them than it does about

you. If you know who you are and how you have chosen to live with this

illness, that self assurance will eventually communicate itself to those who

are more sensitive, even if they still have private questions about your

situation.

> What do you tell people who you meet socially when they ask, " What is

> your illness? "

If this is a casual acquaintance, by all means, I would use the mito label

with no qualification, assuming your doctor supports the diagnosis. I would

reserve the fact that there is no biochemical confirmation for only the most

trusted friends and family, the ones who have earned the right to know.

That's just my take. As Laurie said, we each have to find our own way.

What's comfortable for me might not be comfortable for you.

Barbara

[Guest guest]

> Do you feel that it makes sense to act as if you have mito even if

you

> are uncertain? (E.g. by taking the mito cocktail, avoiding certain

> meds and anesthesias, etc.)

My doctor felt so, but there are different levels of safety/potential

effect of things on the mito cocktail list. And avoiding certain

meds and anesthesia would be good and probably not overly onerous.

> Do you feel in your heart of hearts that you have mito even though

lab

> evidence is inconclusive?

I now have conclusive evidence (fresh muscle biopsy), but before I

got my results, I didn't think I " really had mito " . If I respond to

meds, what does it matter if I have mito or not? Some people don't

respond to anything on the mito cocktail list with a definitive dx,

others do respond with no concrete dx...

> Does the lack of an absolutely definitive diagnosis pose problems

when

> dealing with doctors, non-mito specialists, and/or emergency room

> visits? If so, how do you handle that?

It definitely did, mainly handled it through not going back to those

doctors who didn't believe my symptoms, and family support.

> Does the lack of an absolutely definitive diagnosis create social

> difficulties--e.g. with friends or family not taking you seriously

or> doubting you?

I have a definitive dx, and only my husband really takes it

seriously. Two family members " believe it " , others don't think I am

ill at all. Kind of " we all are under the weather lately " stuff.

Don't expect a " definitive " dx to change anyone's mind...

> What do you tell people who you meet socially when they ask, " What

is

> your illness? "

I am relatively okay, but have severe symptoms intermittently. I

will usually name the dx, and then say " it's a neuromuscular disease,

kind of like MS "

> I'd really appreciate your responses. Perhaps it will help me be

more

> psychologically prepared for whatever I wind up finding out in 2

weeks.

Good luck, we'll be thinking of you. I hope you get your results

soon, and deal with them well. Remember you aren't changing your

condition, just getting more knowledge (either what you have, or what

you might not have...). It seems that most of the better mito

doctors don't depend on a definitive dx to treat a strongly

symptomatic mito-type case...

Take care,

RH

[Guest guest]

I'm sorry, forgot to add one thing: when I first had abnormal

lactate/pyruvate tests, that was more than enough indication for me

that I have a metabolic disease, probably mitochondrial in nature. I

personally think anyone who has abnormal lactate/pyruvate levels

probably has either a primary or secondary mitochondria problem. So

that took me from " suspected neuromuscular disease " to " probable

mitochondrial disease " , leaving off the " probable " for those who

asked.

I have a biochemistry background, so I don't think it's a blind guess

on the abnormal lactate/pyruvate levels being a strong sign of

something wrong (please correct me if I'm wrong guys). It was 2

years between my first lactate/pyruvate level blood test and my

muscle biopsy...

Take care,

RH

>

> Hi Shayna, You're wise to think ahead a little and help prepare

yourself

> for absorbing the news, whichever way it goes. I'll just add a few

comments

> to the other responses you've had.

>

> > Do you feel that it makes sense to act as if you have mito even

if you

> > are uncertain? (E.g. by taking the mito cocktail, avoiding

certain

> > meds and anesthesias, etc.)

>

> If you benefit and if your doctor still believes you fit the mito

diagnosis

> in spite of negative tests, it makes sense to continue.

>

> > Do you feel in your heart of hearts that you have mito even

though lab

> > evidence is inconclusive?

>

> I've seen enough of the printed technical talk to know that most

experts do

> not believe our current testing picks up all cases of mito. These

diseases

> are too variable and complex to pin down easily and the science of

> mitochondrial disease is too young to be infallible. If your

history fits

> and your doctor still believes you have some form of mitochondrial

disease,

> it would probably give you more peace of mind to accept this as

truth, even

> though not scientifically proven.

>

> > Does the lack of an absolutely definitive diagnosis pose problems

when

> > dealing with doctors, non-mito specialists, and/or emergency room

> > visits? If so, how do you handle that?

>

> I believe a confirmed diagnosis makes the system more user-

friendly. But if

> your doctor supports the diagnosis, that will go a long way toward

> minimizing these problems. For example, having a written protocol

or letter

> from your doctor to take to ER or to referrals to other doctors will

> generally insure that you are taken seriously.

>

> > Does the lack of an absolutely definitive diagnosis create social

> > difficulties--e.g. with friends or family not taking you

seriously or

> > doubting you?

>

> It may, depending on their personal attitudes toward illness in

general.

> Just remember that how they react says more about them than it does

about

> you. If you know who you are and how you have chosen to live with

this

> illness, that self assurance will eventually communicate itself to

those who

> are more sensitive, even if they still have private questions about

your

> situation.

>

> > What do you tell people who you meet socially when they

ask, " What is

> > your illness? "

>

> If this is a casual acquaintance, by all means, I would use the

mito label

> with no qualification, assuming your doctor supports the diagnosis.

I would

> reserve the fact that there is no biochemical confirmation for only

the most

> trusted friends and family, the ones who have earned the right to

know.

> That's just my take. As Laurie said, we each have to find our own

way.

> What's comfortable for me might not be comfortable for you.

>

> Barbara

>

[Guest guest]

My children have a dx of metabolic disorder, NOS. I

have no dx yet. My son and I both take the cocktail.

My daughter doesn't yet, but... We use Cohen's article

about surgery and make them take MH precautions. We

avoid mito toxic meds like Depakote.

They are not good enough yet at making diagnoses for

inconclusive results to put us off. Plus, the cocktail

has shown remarkable results.

A diagnosis won't make physicians or others stop

having glazed eyes. They don't understand it anyway.

Mom to the two best kids in the world!

http://www.caringbridge.org/visit/thomasandkatie

__________________________________________________

[Guest guest]

, what are " MH precautions " ?

>

> My children have a dx of metabolic disorder, NOS. I

> have no dx yet. My son and I both take the cocktail.

> My daughter doesn't yet, but... We use Cohen's article

> about surgery and make them take MH precautions. We

> avoid mito toxic meds like Depakote.

>

> They are not good enough yet at making diagnoses for

> inconclusive results to put us off. Plus, the cocktail

> has shown remarkable results.

>

> A diagnosis won't make physicians or others stop

> having glazed eyes. They don't understand it anyway.

>

>

>

>

>

> Mom to the two best kids in the world!

> http://www.caringbridge.org/visit/thomasandkatie

>

> __________________________________________________

>

[Guest guest]

--- shaynapearl happyclam8@...> wrote:

> , what are " MH precautions " ?

MH= malignant hyperthermia

Mom to the two best kids in the world!

http://www.caringbridge.org/visit/thomasandkatie

__________________________________________________