Biopsies

May 16, 1998

Thanks Laurie, I'm feeling so down this afternoon about that very point,

that noone in my family will respond. I just can't comprehend people not

caring about this little boy even if he weren't related. But then they all

let me be the chosen one to be abused (my father had a violent temper and

actually murdered some people tho he was able to hide it and no one in the

family beleives me, at home we were the perfect family) and so maybe there

is something connected here?? As long as I can be the broken person in the

family they are kept intact and blameless the therapist said. The sad part

is they are not intact (many of them have such similar symptoms as we do-per

my brother's son who attempted suicide and my sister's son who is on

Wellbutrin for the suicidal feelings/depression and violent temper, and my

sister's similar heart problems, etc.). And all I wanted to do in the past

is help us all. Now all I want to do is help us and let them chose to go one

with their problems but they are even unwilling to do that. How can humans

be so cold? And they all pretend to be friendly and caring whenever we talk

or get together for anything, wierd, I can't figure it out.

I will go on and make the genogram and include what I know. S.

Re: Biopsies

>

>-

>

>This is my personal opinion, but I don't think you need to have the help of

those who don't want to be a

>part of this. The way I did it was to make a family tree for both my

father's side and my mother's side

>of the family. I used a circle for females and a square for males. I used a

" / " for those who were no

>longer living. I then numbered each person and listed their confirmed

diagnosis (like died of a heart

>attack or GERD). I did this for my parents, grandparents, siblings and

children of myself and siblings.

>There were things I left off for some, but it was enough to give the

doctor's a picture of the family. I

>know Dr. Shoffner wasn't even interested in cousins at this point. Once a

defect is found (if in the

>mtDNA) then we can decide who needs to be informed or looked at more

closely.

>

>Laurie

>

>>

>> I was thinking it is my daughter Shenan who should do that and not

as

>> she would have both the nDNA and the mtDNA disorders most likely or at

least

>> the mtDNA which wouldn't have being my son's son. (Unless of course

he

>> had one thru his mom).

>

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May 15, 1999

To anyone interested in biopsies.

St. does do fresh biopsies, but there is a limiting factor to their

capabilities. As I found out with my new patient that is going to be biopsied in

Atlanta in June, St. has a weight limitation. They have looked at 3 of my

patients, 2 who were apparently above the wt. limit and were biopsied, and one

who wasn't biopsied who was just teetering below 20 pounds. Being a pediatrician

and seeing kids under 20 pounds, I've become very " concerned " about the lack of

resources locally (I live on the Jersey side of Philly). So, Philly offers

another option for some people, but if less than 25 pounds whish is what I was

told was their cut-off, then don't spend time, energy, hope, effort, etc in

coming to Philly.

Ken

May 15, 1999

,

Dr.Cohen does not actually do the biopsies in Cleveland, he is a

neurologist not a surgeon. He does see folks with mitochondrial

disease and he will help make the arrangements for a biopsy to be

done, either at Case Western in Cleveland(actually where the specimen

goes), or ish Rite in Atlanta.

You are so close to the folks in California that also do fresh muscle

biopsies, wouldn't it be easier all the way around for you to try to

arrange an evaluation out there? There are all kinds of folks on

the Ca list that give some guidance and perhaps even help with the

arrangements, or steer you in the right direction.

Jeannine

May 16, 1999

-

This is my personal opinion, but I don't think you need to have the help of

those who don't want to be a

part of this. The way I did it was to make a family tree for both my father's

side and my mother's side

of the family. I used a circle for females and a square for males. I used a " / "

for those who were no

longer living. I then numbered each person and listed their confirmed diagnosis

(like died of a heart

attack or GERD). I did this for my parents, grandparents, siblings and children

of myself and siblings.

There were things I left off for some, but it was enough to give the doctor's a

picture of the family. I

know Dr. Shoffner wasn't even interested in cousins at this point. Once a defect

is found (if in the

mtDNA) then we can decide who needs to be informed or looked at more closely.

Laurie

>

> I was thinking it is my daughter Shenan who should do that and not as

> she would have both the nDNA and the mtDNA disorders most likely or at least

> the mtDNA which wouldn't have being my son's son. (Unless of course he

> had one thru his mom).

June 1, 1999

Hi Nik,

had a skin and muscle biopsy when he was 4 years old. The

procedure itself and the healing time was no big deal. left with a

band-aid and was told to follow up with his ped. We were in San Diego

seeing a specialist at the time. As a matter of fact, he was undergoing a

weeks worth of testing. He didn't seem to have any pain and it didn't seem

to bother him when he crawled or moved around. It was a very small

incision. The test results took about 3 months or so to get back and were

negative. We had a frozen biopsy I think so that could be why the results

were negative. Or it could be that they took a sample of good mitochondria.

It's like looking for a needle in a haystack so don't be too disappointed if

it comes back normal. All in all it's a pretty easy procedure. It's the

waiting for the results that's hard. )

Sue ( & Jack)-worn out parents to the greatest kids on earth--

Chris-8: Leigh's Disease, MR (mild), hypotonia, non-walker/talker

-7: Leigh's Disease, MR (mild), hypotonia, non-walker/talker, trach

tube (tracheomalasia), g-tube/fundo http://jscb.home.mindspring.com

June 1, 1999