my mtDNA results...A8344G MERRF

[Guest guest]

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.

[Guest guest]

Steve,

Your understanding is the same as mine with the mtDNA mutation.

I can understand your mixed feelings with getting these results back. I

think most of us, if not all, go through that. It will take time to let

your mind get around all of this. Wishing you luck with your appeal for

disability.

a

On Sat, 7 May 2005 03:53:49 -0400 " Steve " micro_choice@...>

writes:

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.

[Guest guest]

Steve,

I’m very glad to read that you have a diagnosis now. Even though it’s a

double edged sword, this opens the door to many options for you and you

should take advantage of them. The main one is that having the diagnosis

should indeed be helpful with your disability claim. They may not

understand that this is a form of Muscular Dystrophy so making them aware of

that fact is quite important. Muscular Dystrophy is coded for approval so

that should speed things up. Additionally, you can now use the benefits of

the MDA. I can’t tell you that their doctors are all versed on Mito but the

diagnosis offers other assistance that you might be able to take advantage

of at some point. I’d be sure to get an appointment so you are registered

with them.

The inheritance factor for you is a blessing. I can only imagine how

grateful you are for this. It does sound suspicious about your mother’s

early death but people with Mito do seem to have a high percentage of cancer

occurrence so the cancer diagnosis could have been correct and she may have

indeed had it.

It does come as a blow in some ways when you get the diagnosis but time

helps to deal with it and very few people are able to get such a definitive

diagnosis (for you the location of A8344G MERRF). Our family is suspected

of having a Melas/Merrf override but even now – we really only know the

complex deficiencies and nothing more. It’s also being passed down the

maternal line and we have many diagnosed family members – both adult and

children.

Give yourself time to absorb all this and remember that we’re here 24/7.

Alice

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