my mtDNA results...A8344G MERRF

May 7, 2005

After a lot of delays, today I got my first blood test result, for

mitochondrial mutations. Considering that only 15% of people with Multiple

Symmetrical Lipomatosis (MSL aka Madelungs) have any identified mutation at

all, and that many such mutations are only identified by muscle biopsy, I

guess I'm fortunate that mine was found by blood test alone.

The famously " infallible " Athena Diagnostics tested 3 month old blood (how

stored???) collected in tube types appropriate for a different (erroneously

ordered) test, thereby violating their own protocols in two ways. According

to them, I unequivocably have an mtDNA mutation at location " tRNA Lys

A8344G " , which is the most common (80%) of the four mutations associated

with MERRF.

To my understanding and research, this mutation, because it was found in

blood, could not have arisen spontaneously in me, and furthermore must have

come from my mother. She died when I was five, reportedly of cancer

(lymphoma). I doubt that ther six-year illness was completely misdiagnosed,

but she apparently either harbored MERRF or was symptomatic but undiagnosed

(not surprisingly, of course, in the early 1950's). She had only one child

(me, a male) and no sisters (one of her brothers was quite healthy until

rather old, but I don't know about the other). My two kids (one boy and one

girl) cannot inherit this, and thus this local familial " strain " has died

out. My maternal grandmother was spry in her 80's, so I doubt she was

symptomatic, but her sisters may have had children and any of her siblings

may have had MERRF, no way to know now.

QUESTIONS: Any opinions on the above, i.e. have I understood maternal

inheritance correctly? And what about the spontaneity? Also, any views on

whether I should insist on a re-test?

I expect this result will help with my disability application, that's now in

its last round of appeal. I'm oddly buoyed, for that reason, but also

troubled because now I can't hope that all my symptoms are just the result

of something else that's easily cured. Ha, as if I really had any hope of

that. :-) Nonetheless, this long ongoing journey has created in me a certain

heightened awareness, about a lot of related important issues of life. And I

suspect most all of you well understand what I mean. Sort of like a bit of

" early " (age 55) wisdom, or at least, perspective, with a lot more

compassion and understanding of suffering in all its many forms.

Steve D.

May 7, 2005

Steve

I am glad you are finally getting the answers you are searching for

and hope it really helps with the disability appel.

I know what you mean about the joy and sadness that you feel. I think

most of us go through that.

I understand mtDNA transmission as you do.

Good luck with the disability and give yourself time to absorb and

deal with the diagnosis.

laurie

> After a lot of delays, today I got my first blood test result, for

> mitochondrial mutations. Considering that only 15% of people with Multiple

> Symmetrical Lipomatosis (MSL aka Madelungs) have any identified mutation at

> all, and that many such mutations are only identified by muscle biopsy, I

> guess I'm fortunate that mine was found by blood test alone.

>

> The famously " infallible " Athena Diagnostics tested 3 month old blood (how

> stored???) collected in tube types appropriate for a different (erroneously

> ordered) test, thereby violating their own protocols in two ways. According

> to them, I unequivocably have an mtDNA mutation at location " tRNA Lys

> A8344G " , which is the most common (80%) of the four mutations associated

> with MERRF.

>

> To my understanding and research, this mutation, because it was found in

> blood, could not have arisen spontaneously in me, and furthermore must have

> come from my mother. She died when I was five, reportedly of cancer

> (lymphoma). I doubt that ther six-year illness was completely misdiagnosed,

> but she apparently either harbored MERRF or was symptomatic but undiagnosed

> (not surprisingly, of course, in the early 1950's). She had only one child

> (me, a male) and no sisters (one of her brothers was quite healthy until

> rather old, but I don't know about the other). My two kids (one boy and one

> girl) cannot inherit this, and thus this local familial " strain " has died

> out. My maternal grandmother was spry in her 80's, so I doubt she was

> symptomatic, but her sisters may have had children and any of her siblings

> may have had MERRF, no way to know now.

>

> QUESTIONS: Any opinions on the above, i.e. have I understood maternal

> inheritance correctly? And what about the spontaneity? Also, any views on

> whether I should insist on a re-test?

>

> I expect this result will help with my disability application, that's now

> in

> its last round of appeal. I'm oddly buoyed, for that reason, but also

> troubled because now I can't hope that all my symptoms are just the result

> of something else that's easily cured. Ha, as if I really had any hope of

> that. :-) Nonetheless, this long ongoing journey has created in me a

> certain

> heightened awareness, about a lot of related important issues of life. And

> I

> suspect most all of you well understand what I mean. Sort of like a bit of

> " early " (age 55) wisdom, or at least, perspective, with a lot more

> compassion and understanding of suffering in all its many forms.

>

> Steve D.

>

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>

May 7, 2005

Steve, Aha. So now you have an " address " to send your complaints. That's the

way I always think of my mutation..location, location, location. I do hope

this diagnosis aids your disability application. It certainly should. Labels

are very helpful in such situations, even if they have mixed emotional

implications for us patients. It should also help you get better medical

care i.e. a doctor who pays attention. One can hope anyway. Even though the

screening was done on mtDNA from " old " blood, I would think that would not

necessarily invalidate the results, since mtDNA does not deteriorate in that

length of time---at least that is what I understand. DNA is pretty hardy. I

don't know what of kind of track record Athena has on mtDNA analysis, but

identifying a known mutation should be straightforward. Hard to see how they

could mess that one up. You're absolutely right about personal

illness/suffering and how it raises our awareness of suffering in general.

Too bad compassion has to be so hard won, but that's the only way most of us

learn it, I'm afraid. Whenever I meet a very compassionate person, I always

wonder what hard things have happened in their life.

Take care,

Barbara

_____

From: [mailto: ] On Behalf

Of Steve

Sent: Saturday, May 07, 2005 2:54 AM

To:

Subject: my mtDNA results...A8344G MERRF