Bug - Re: large Vs needle biopsy

July 8, 2004

Hi Bug,

Thank you for the kind wishes.

I had a large (1 " x2 " ) biopsy taken from my upper arm in 2002 in Toronto.

The resulting diagnosis was " non-genetic " Mitochondrial Cytopathy and

that ONLY my eyelids and POSSIBLY my heart would be affected.

The " expert " that gave that diagnosis took NO family history - at all!

I have had bilateral Ptosis from birth and have had a history of

having a heart murmur as far back as I can remember. As a child I was

skinny and sickly. I also had endurance problems (could run fast but

not far) So a simple question would be – when did I acquire the

" non-genetic' Mito?

The " expert " deemed – in a god-like fashion, that the illnesses and

symptoms (Diabetes, chronic fatigue, muscle soreness/cramping, left

ventricle hypertrophy, intestinal problems etc. etc. were NOT related

to Mito. An MRI, which is all that the referring Neuro had requested

was, in fact never done. In hindsight, what I think about that

particular " expert " is … " the emperor has no clothes "

But because of the reputation the " expert " has, I was left with the,

" it's all in your head " diagnosis that all too many Mito patients have

received at he hands of the *inexperienced, ignorant and incompetent.

Because there was no family history taken, the fact that my siblings

and my ancestors suffered from illnesses and symptoms similar to mine,

this information played no part in the diagnosis. Fortunately,

information on the UMDF kept me searching for answers – because, what

I had been diagnosed with and what was written by competent, mito

savvy professionals clearly discredited my initial diagnosis.

Obviously the " large " biopsy was a waste – at least in the hands of

the individual doing the initial diagnosis.

Like most people I'm anxiously awaiting the results of the

Best regards

===============================================================

>>Glad all went well with your procedure. I too had needle

>>biopsies a couple of years ago with no success (3 total). Although

>>they showed some sort of inflammation, an open muscle biopsy was

>>required for a definitive dx of mito myopathy. I was told the

>>needle biopsies are much cheaper to perform so the insurance

>>companies generally require them before paying out for an open

>>muscle biopsy. I've also heard that they are rarely effective (due

>>to the poor sample size) for obtaining a dx. After all, an entire

>>muscle might not be effected. Generally portions of certain muscles

>>are effected by the disease and other sections or muscles can look

>>perfectly healthy...therefore, the process of biopsy is hit or miss

>>anyway. Hence the needle biopsies being less effective. Hope you

>>have better luck and better health !

>>Bug

==============================================================

*Ignorance can be fixed, but …stupid is forever.

July 8, 2004

Since mitochondria are in all cells but red blood cells and mostly

sperm, the fact that all body systems can be effected is kind of a no

brainer in my mind. You may not be affected in all body systems from

the onset of systems, but that unfortunately doesn't mean you won't have

added symptoms in additional body systems as years go by. It sounds

like you need to have things reviewed by another mito doc. Is that a

possibility? Are you taking the mito cocktail, etc.?

Ken wrote:

>Hi Bug,

>

>Thank you for the kind wishes.

>

>I had a large (1 " x2 " ) biopsy taken from my upper arm in 2002 in Toronto.

>

>The resulting diagnosis was " non-genetic " Mitochondrial Cytopathy and

>that ONLY my eyelids and POSSIBLY my heart would be affected.

>The " expert " that gave that diagnosis took NO family history - at all!

>

>I have had bilateral Ptosis from birth and have had a history of

>having a heart murmur as far back as I can remember. As a child I was

>skinny and sickly. I also had endurance problems (could run fast but

>not far) So a simple question would be - when did I acquire the

> " non-genetic' Mito?

>

>The " expert " deemed - in a god-like fashion, that the illnesses and

>symptoms (Diabetes, chronic fatigue, muscle soreness/cramping, left

>ventricle hypertrophy, intestinal problems etc. etc. were NOT related

>to Mito. An MRI, which is all that the referring Neuro had requested

>was, in fact never done. In hindsight, what I think about that

>particular " expert " is ... " the emperor has no clothes "

>

>But because of the reputation the " expert " has, I was left with the,

> " it's all in your head " diagnosis that all too many Mito patients have

>received at he hands of the *inexperienced, ignorant and incompetent.

>

>Because there was no family history taken, the fact that my siblings

>and my ancestors suffered from illnesses and symptoms similar to mine,

>this information played no part in the diagnosis. Fortunately,

>information on the UMDF kept me searching for answers - because, what

>I had been diagnosed with and what was written by competent, mito

>savvy professionals clearly discredited my initial diagnosis.

>

>Obviously the " large " biopsy was a waste - at least in the hands of

>the individual doing the initial diagnosis.

>

>Like most people I'm anxiously awaiting the results of the

>

>Best regards

>===============================================================

>

>>>Glad all went well with your procedure. I too had needle

>>>biopsies a couple of years ago with no success (3 total). Although

>>>they showed some sort of inflammation, an open muscle biopsy was

>>>required for a definitive dx of mito myopathy. I was told the

>>>needle biopsies are much cheaper to perform so the insurance

>>>companies generally require them before paying out for an open

>>>muscle biopsy. I've also heard that they are rarely effective (due

>>>to the poor sample size) for obtaining a dx. After all, an entire

>>>muscle might not be effected. Generally portions of certain muscles

>>>are effected by the disease and other sections or muscles can look

>>>perfectly healthy...therefore, the process of biopsy is hit or miss

>>>anyway. Hence the needle biopsies being less effective. Hope you

>>>have better luck and better health !

>>>

>

>>>Bug

>>>

>==============================================================

>

>*Ignorance can be fixed, but ...stupid is forever.

>

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>

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>

July 9, 2004

Ken,

I just had a large muscle biopsy at columbia/ presby in NY at the MDA center.

There they took an extensive family history before they even considered me a

candidate for a biopsy. (Yes, I have a long family history of problems). When

my biopsy came back positive for Mito (they don't know what kind, since I have

an unusual varient red ragged fibers with cytochrome c oxidase def), they didn't

tell me what to expect until the DNA sequencing is done. I'm still waiting, but

at least, I'm not getting bogus info. I think a biopsy is a usuful tool, if the

right dr. is using it.

Perrie