Re: Ventilator

[Guest guest]

In a message dated 02/29/2000 10:41:24 PM Pacific Standard Time,

jhairston@... writes:

> So, for you guys who visited ish Rite, did you find out anything that

> helped, or at least the facts for similar discussions to the one that I'm

> afraid of?

>

> Also, please share with me the logistical action about your visits - the

> agenda, if you can call it that. Two days, a week? Blood, skin, muscle,

> etc.? What sort of tests? How long for results? Just a general

> expectation of the action?

>

Hi, -

Well, we had mostly docs saying " can't be mito " when we made the decision, so

the circumstances are definitely different. BUT--I, too, have an older

daughter who is developing typically and I want to be able to have as much

information for her as possible.

So far, we know from the assessment at ish Rite that has

deficiencies at Complex I and III, as well as some other miscellaneous pieces

of information about the pathology of his disease (myofiber variation, rare

centrally located nucleus, myofiber degeneration, lipid accumulation, a few

fibers with no cytochrome c oxidase staining, etc.) Basically this would be

the " Yep it's mito " part for you. For us this was " Take note . . . this is

not a behavioral feeding problem with unrelated neuro issues . . . this is

mito! "

As far as genetics, they did a Southern blot analysis of skeletal muscle

mtDNA that revealed no deletions or duplications. They did mtDNA point

mutation analysis at four specific positions, I assume based upon his

clinical presentation--the ones that were most likely to be problematic.

This testing revealed no genetic errors. And then the report states that:

" Since the oxidative phosphorylation enzymology was abnormal, further

analysis of mtDNA by SSCP and sequencing will be performed. Based on the

defects observed on the oxidative phosphorylation enzymology, we are

screening the 22 transfer RNA genes, the 7 complex 1 genes, the 2 ATP

synthase genes, the single complex III gene, and the 2 ribosomal RNA genes in

the skeletal muscle mitochondrial DNA. "

They state that it will take about 11 months to complete the testing. (It

has been 10 months now since the biopsy and 6 months since we received the

diagnostic report. So we should get some results in another month to five

months.) They state that if this assessment is negative, then they would

like to use his tissue for an NIH grant study of nuclear encoded complex I

subunits.

So you have the FULL explanation of what I have been told they will be doing

to determine if they can locate the genetic source of 's difficulties.

The only other piece of information they have provided is that they feel that

our family history is suspicious for maternal inheritance. (I will share

more about the history if it will help you . . .) However, in comparing my

mother's family history to my father's, I see just as many soft signs in my

father's sib group as I do in my mother's. And there is absolutely nothing

even remotely like for many generations. Other docs have sort of

scoffed at the maternal inheritance assertion. But, then again, those are

some of the same docs who said " can't be mito " . Another doc has told us he

thinks it smacks of x-linked inheritance based on the history. So, at this

point, we don't have any answers about inheritance at all--just alot of

hypothesis and disagreement among the docs.

Perhaps we will find answers in the remaining genetic testing that will be

complete sometime in the next year. I hope that we do. I think. Maybe we

won't. I don't know what I will tell . I don't know what the right

decision regarding childbearing is for my sister's either. They both have

one child each . . . reasonably healthy . . . . mild reflux, one low muscle

tone, but functioning very very well. So go figure. What do you do with all

this inconclusive information?

Oh--and logistics--we did two days . . . one for the consult, one for the

biopsy and testing. Testing complete around lunch time. Biopsy (skin and

muscle), MRS, MRI, blood, urine and spinal fluid. Organic and amino acids,

carnitine level and free to total ratio. CSF lactic acid and pyruvate.

Fibroblast testing for beta oxidation. Analysis of muscle tissue, enzyme

testing. I think that covers it.

We did it in two trips . . . but I understand most do it in one trip. Not

sure how long it takes to schedule the biopsy after the consult.

I am happy to answer any other questions you might have!!!

Kathy C.

[Guest guest]

:

I am not able to answer your questions, but I wanted to know you are in my

thoughts.

Michele

[Guest guest]

- We went to Atlanta two years ago. We flew in one day, had a consult

with Dr. Shoffner and Dr. Krawiecki the next day, the surgery and tests the

third day, and flew home the fourth day - so it was really two days, plus

travel time. The whole experience while we were there was relatively easy;

things were well-organized and ran smoothly. The surgery was pretty quick

and my son came out of the anesthesia without any trauma. (The recovery

rooms were wonderful and had a VCR in each, which sounds like a little thing,

but made the recovery much easier for him). My son's health was not bad, so

that traveling was not difficult for us, and although we were nervous about

the anesthesia, he had had it a couple of times before without incident, so

we didn't have as much grounds for fear as other people.

Waiting for the results from Atlanta was an extremely frustrating

process. We didn't get the final diagnosis (Complex I and III) for about 6

or 7 months, and even then only when we called looking for it. When we did

finally get a letter from them with the results, we could not understand it,

and the doctors were not at all enthusiastic about explaining it to us in the

level of detail that we were looking for. However, it has been good and

helpful to have a diagnosis. They were able to determine that he did not

have any mutations in the mitochondrial DNA and to tell us that it is most

likely the result of a nuclear DNA mutation and therefore is probably not a

huge risk for my sisters or my (so far) normally developing children when

they want to have children unless they were to have the unlikely misfortune

to find someone with the same recessive problem. We delayed two years before

we went because it seemed not worth putting him through the procedure when it

wouldn' t change his treatment or even give us much of a useful prognosis,

but I'm glad now that we did it. It's helpful to know what we're dealing

with and not to be constantly searching for an answer. It sounds like it

may be a harder call for you as to whether it is worth putting your daughter

through the trip and the testing if it would be hard on her. Good luck.

[Guest guest]

ohhh john!

my heart aches for your family......i think we all know the constant ache of

living in the shadow of death with our precious babies (even when they aer no

longer babies they will still be OUR babies), but it is never any easier when

reality comes crashing in. i'm not sure if you saw gloria c's post a few

days ago regarding her thoughts on doing all you can to get

information/diagnoses...it certainly changed our family's position on the

subject (we used to NOT want to do anymore testing, but have since decided to

pursue the answers, good, bad or otherwise)

i will certainly keep your family in my thoughts......(and prayers if that is

okay). we will be at the conference, too and hope to meet up

someday...w0ould be nice to put some faces on the cybernames

ruth

[Guest guest]

Hi and Ann,

My son was diagnosed by Schoffner here in Atlanta at age 2 1/2. For me it

was good to finally have a diagnosis. (complex 1 and 4). What we did learn

was very important (and good news) is that his mito was not maternally

inherited (ie his disease stems from the nuclear DNA as opposed to the

mitochondrial DNA). This was good to know as we have two girls as well.

Once the biopsy is scheduled, the actual procedure is a one day out patient

procedure. Of course you would need to come out for an initial consultation

unless this can be done by phone.

Please let me know if you have more questions.

n Howe, Atlanta Ventilator

>

>

> Hey, guys. It's the middle of the night here in Mississippi and my wife

and

> I are discussing the virtues of attempting the seven hour drive to Atlanta

> to ish Rite to see Dr. Schoffner and pals. Mito gave us unmitigated

> hell this past weekend - seizures, fevers, you name it we had it.

> Essentially we had everything but sleep.

>

> Anyway, we have been thru a good bit with Kennedy and have reached a

> peaceful acceptance that she is sick, she is dying, and we can do

everything

> we can but no magic bullet is going to drop out of the sky. We hate to

put

> her thru another episode of vampirism (our word for the blood samples),

> anesthesia for biopsies, etc. Especially if at the end of all this we get

> an assessment of " yep, she has mito. "

>

> But here's my dilemma. I watched a TV show on a father giving away his

> daughter and stayed up all night squawling like a big sissy. You see,

it's

> not losing Kennedy that I'm so afraid of. It's the other girls getting

> married and asking Ann and I about children. Oh, Lord, what do we tell

> them? We don't know how this disease finds it's way thru the generations,

> what their chances are of being carriers, anything. I don't have a lot of

> heart left and just can't stand the thought of not doing all we can do to

> learn enough about Kennedy to pass it along to the other girls later.

>

> So, for you guys who visited ish Rite, did you find out anything that

> helped, or at least the facts for similar discussions to the one that I'm

> afraid of?

>

> Also, please share with me the logistical action about your visits - the

> agenda, if you can call it that. Two days, a week? Blood, skin, muscle,

> etc.? What sort of tests? How long for results? Just a general

> expectation of the action?

>

> Last question..................who's going to the conference June 1? Any

> mito c3 guys going?

>

> Hairston

> Kennedy's Dad

> Mito C3, vent, g-tube, the works

>

> To be painfully direct, we have been thru so much with Kennedy that we

have

> given up hope

>

>

>

>

> ------------------------------------------------------------------------

> Luck o' the Irish! Get your St. Paddy's day party supplies at

> GreatEntertaining.com today. Green salami, brew kits, shamrock

> confetti, gold coins, & more. Go Bragh!

> http://click./1/2042/1/_/368657/_/951892803/

> ------------------------------------------------------------------------

>

> Brought to you by www.imdn.org - an on-line support group for those

affected by mitochondrial disease.

>

[Guest guest]

My thoughts and prayers are with you .

[Guest guest]

,

We too agonized over the decision to have tested in Atlanta. We are

so glad that we did. Unfortunately, for as much as we did learn, we did not

learn whether or not I am the carrier - thus we don't know if the boys have

it. What we do know is that it was not a recessive gene that both my

husband and I have. Our two boys are developing normally, and we are

thankful for that - yet they could show symptoms at any time if I am the

carrier. It was still worth getting it done. We have decided at this point

not to pursue any additional testing unless it looks like there is a problem

- the boys can't pass it on as all the mitochondria comes from the cytoplasm

of the egg.

We had our consultation in Atlanta one day and the biopsy the next morning.

We were on our way back to Phoenix by 5pm that afternoon. We spent two

nights - could walk where we needed to go from our accommodations - and felt

like we were treated with the utmost care. For us it was worth the trip and

the discomfort for - they were very good with her. My only

suggestion would be that if your daughter is distracting, find a way to meet

with the docs without her. did her autistic movie-talk and asked

repetitive questions through the whole thing and it was very distracting for

us. It was hard to listen.

I understand the pain that you and your family are feeling. If you are

worried about your daughters, then you should probably do something about

it. You are in my thoughts and prayers.

Lou

>

>

>

>

>

--

Lou

mom to ,14 Complex I & III; Jeff 16 and Greg 10 (typical active boys)

[Guest guest]

Lou,

Question for you - how did you rule out an autosomal recessive inheritance?

I was under the impression that this was impossible to rule out unless the

actual defect was found.

Thanks,

Terri

>

<SNIP>

>What we do know is that it was not a recessive gene that both my

>husband and I have. Our two boys are developing normally, and we are

>thankful for that - yet they could show symptoms at any time if I am >the

>carrier.

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[Guest guest]

on 3/3/00 12:37 PM, Terri Mason wrote:

>

>

> Lou,

>

> Question for you - how did you rule out an autosomal recessive inheritance?

> I was under the impression that this was impossible to rule out unless the

> actual defect was found.

>

> Thanks,

>

> Terri

Terri,

We are in the midst of an evaluation with a developmental psychologist so

that we can figure what in the world we are going to do with in a

Junior High next year (more than a little scary!). All of my copies of her

records are with this Dr. right now so I can't tell you the specifics.

There was a day when I could recite it all perfectly - but those days are

long gone. What I do remember is that they did rule that out - I paid

particular attention to that because I was worried about our boys passing it

on. I feel like a bonehead for not remembering the medical explanation, but

I will write to you as soon as I get the records back.

--

Lou

mom to ,14 Complex I & III; Jeff 16 and Greg 10 (typical active boys)

[Guest guest]

Thanks Lou - I'll wait patiently!

Terri

>

>Reply-To: Mitoonelist

>To: <Mitoonelist>

>Subject: Re: Ventilator

>Date: Sat, 04 Mar 2000 15:56:26 -0700

>

>on 3/3/00 12:37 PM, Terri Mason wrote:

>

> >

> >

> > Lou,

> >

> > Question for you - how did you rule out an autosomal recessive

>inheritance?

> > I was under the impression that this was impossible to rule out unless

>the

> > actual defect was found.

> >

> > Thanks,

> >

> > Terri

>

>Terri,

>We are in the midst of an evaluation with a developmental psychologist so

>that we can figure what in the world we are going to do with in a

>Junior High next year (more than a little scary!). All of my copies of her

>records are with this Dr. right now so I can't tell you the specifics.

>There was a day when I could recite it all perfectly - but those days are

>long gone. What I do remember is that they did rule that out - I paid

>particular attention to that because I was worried about our boys passing

>it

>on. I feel like a bonehead for not remembering the medical explanation,

>but

>I will write to you as soon as I get the records back.

>

>--

> Lou

>mom to ,14 Complex I & III; Jeff 16 and Greg 10 (typical active boys)

>

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