Re: Beth

[Guest guest]

In a message dated 03/31/2000 8:06:07 AM Pacific Standard Time,

marilou@... writes:

> I didn't know much then about all of this stuff and there was no list like

> this that I was aware of to get information. I encourage you to just go

> ahead and get the fresh one and drive to Cleveland. The TV thing is what

> worked best with back then and was the only way we could do a trip

> like that. As hard as it was for her, getting it over with allowed us to

> quit testing her, which in turn slowed down the progression of the disease

> because of her lowered stress level.

>

Beth -

Just wanted to add to what I said earlier: If it is possible to drive your

son to Cleveland in order to get a fresh rather than a frozen biopsy, then by

ALL means, DO IT! I only think that frozen should be done when there is NO

feasible way to get a fresh biopsy . . . the child is medically fragile and

not strong enough to travel by any method, for instance. BUT, if Clay will

do the drive to Cleveland with a VCR, it will be well worth it to ensure that

you are getting the best information possible!!

BTW, we, too, have seen Dr. Cohen, though he did not do 's biopsy. I

thought he was extremely competant and knowledgeable. Dr. Cohen tailored

's vitamin/supplement program. I think you will feel it is worth the

effort if you decide to go.

Kathy C.

mom to and

[Guest guest]

Beth,

I don't post often, but your situation sounds a great deal like ours.

is also very autistic and was extremely tactily defensive when she

was the age of your son. We did the frozen biopsy first and the results

were negative. We eventually ended up in Atlanta for a fresh biopsy which

came back with Complex I and III deficiencies.

I didn't know much then about all of this stuff and there was no list like

this that I was aware of to get information. I encourage you to just go

ahead and get the fresh one and drive to Cleveland. The TV thing is what

worked best with back then and was the only way we could do a trip

like that. As hard as it was for her, getting it over with allowed us to

quit testing her, which in turn slowed down the progression of the disease

because of her lowered stress level.

She hated it, but she got through it. (It took 2-3 adults to hold her down,

and we often blanket wrapped her to make is safer for her. It may sound

cruel but it worked like it does for an infant in a sense, especially with

the tactile issues). I remained very calm and reassuring, as she would

react far worse when I couldn't handle it. Because I was so calm, the

anesthesiologist would always let me stay with her until she was out (I

would tell her that she was just getting a quick blood test even though it

was an IV because it was pretty much the same procedure and she didn't

remember anything anyway). I used the Emla cream by putting a couple of

those clear sticky things that the hospital uses for wounds over it (I

always put it on both sides so that they would have a choice of veins since

hers were tough to find). She hated all of it, but I did it anyway. I

guess my point is that finding an answer made a huge difference for us, and

even if it is hell to get there, when it is over, it is over. I just wish I

knew about the frozen vs. fresh biopsy so she wouldn't have had to go

through it twice.

Best of luck, ML

--

Lou Micheaels

marilou@...

Home:

Fax:

Pager:

[Guest guest]

Beth,

One more thought:

We have never had a 'metabolic specialist' take care of . She has been

treated by a pediatric neurologist that we adore.

Best of luck, ML

>

--

Lou

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

[Guest guest]

Great point. We have had both and the only thing that matters is which

doctor cares enough to do the best job that our children deserve. Our main

doctor is an infectious disease/HIV doctor so he is defiantly not a metab

expert which he will tell you himself. before he was their main doctor he

was just a infectious disease consult that I happened to trust and have a

good relationship with. But he cares enough about my children's quality of

life to do what is right for them .

I think this is how many of us have happened upon our children's main

attending physicians. he certainly does not want any more metabolic

patients as it is not his area of expertise but was willing to do this for

us. In other situations I know that a ped is the main doctor, a

cardiologist, a neurologist and even a gastroenterologist. My advice is

always to identify whoever it is you trust the most and has similar

philosophy about the care of your child and ask that person to be the team

leader regardless of specialty or depth of knowledge.

Anne

----------

>

> To: Mitoonelist

> Subject: Re: Beth

> Date: Friday, March 31, 2000 10:18 AM

>

> Beth,

> One more thought:

> We have never had a 'metabolic specialist' take care of . She has

been

> treated by a pediatric neurologist that we adore.

>

[Guest guest]

orion's frozen biopsy showed an abnormality, but nothing specific. the

results were very vague. the fresh one was done about 2 weeks later, and was

much more informative-- from what i understand, they were able to determine a

specific enzyme (or enzymes) that was missing, which caused his kreb's cycle

to " back up " .

i hope i am explaining this ok... it has been a over a year since the

fresh was done (it was done post-mortem, during the autopsy). i still have

not received any autopsy reports (not even the fresh biopsy report), so i am

trying to explain this from memory of what orion's dr has told me.

the only reason we even had the frozen one done was because we were

desperate for answers, and orion's weight did not yet meet the requirement to

have the fresh one.

julia

orion's mommy

<a href= " http://www.angelfire.com/ri/orion1 " >Orion's Page</a>

p.s. if anyone would like to see some pictures of orion, they are under the

link " orion's portfolio " on his website.

In a message dated 3/31/00 1:07:19 PM Pacific Standard Time,

clayboy@... writes:

<< I explained what I had read over the past month on the list about

frozen vs. fresh and he said its nonsense. He said that you never

hear from the people who had positive results from frozen or ones

that

had negative results from both fresh and frozen; and that you only

hear stories of fresh being positive when the frozen wasn't - when it

was years later that the fresh was done and the disease progressed.

I

didn't want to write all of that because I didn't want to piss

(sorry)

everyone off.

>>

[Guest guest]

To all who have taken time to reply:

Thank you very much.

I must have not communicated clearly, but its not that my doctor will

not work with another doctor in another area, he just thinks that

Cleveland is not that great and that Atlanta and Portland are the

best. He also believes that the frozen are fine and there's no need

to go to Cleveland. He said he would work with me and set up

whatever

I wanted if I wanted to go to Cleveland, but he did not think it was

worth it. Sorry, I should have really made that clearer.

I explained what I had read over the past month on the list about

frozen vs. fresh and he said its nonsense. He said that you never

hear from the people who had positive results from frozen or ones

that

had negative results from both fresh and frozen; and that you only

hear stories of fresh being positive when the frozen wasn't - when it

was years later that the fresh was done and the disease progressed.

I

didn't want to write all of that because I didn't want to piss

(sorry)

everyone off.

I just can't write his name because I don't think that's fair. The

few moms in my area know who I'm talking about.

I think this doctor cares, he just thinks he knows it all and quite

frankly, he doesn't.

So, I just need to do what I need to do and I think after reading

everyone's comments and thinking about it. Clayton can handle a 9

hour ride - it won't be pretty, but why put him through a test here

if

its not the best test.

Who was writing me about wrapping their daughter in a blanket while

she was screaming. Why is this necessary? Don't you just put them

out and then run all the tests and take the biopsy?

I'm not doing an emg because I haven't been convinced on its

necessity. This is why my doctor bugs me. He doesn't explain the

medical findings and reasons why to do a test. I'm just suppose to

trust him because he's the doctor. I've learned a lot over the past

3 1/2 years and letting doctors probe my child and watch him suffer.

I

just can't let it happen anymore unless me and dad really believe

its

worth it.

Thank you all so much for your time and any little details about what

to expect, I would really appreciate. I like to be prepared for

everything.

Warmly,

Beth

> In a message dated 03/31/2000 8:06:07 AM Pacific Standard Time,

> marilou@... writes:

>

> > I didn't know much then about all of this stuff and there was no

list like

> > this that I was aware of to get information. I encourage you to

just go

> > ahead and get the fresh one and drive to Cleveland. The TV

thing

is what

> > worked best with back then and was the only way we could

do a trip

> > like that. As hard as it was for her, getting it over with

allowed us to

> > quit testing her, which in turn slowed down the progression of

the disease

> > because of her lowered stress level.

> >

>

> Beth -

>

> Just wanted to add to what I said earlier: If it is possible to

drive your

> son to Cleveland in order to get a fresh rather than a frozen

biopsy, then by

> ALL means, DO IT! I only think that frozen should be done when

there is NO

> feasible way to get a fresh biopsy . . . the child is medically

fragile and

> not strong enough to travel by any method, for instance. BUT, if

Clay will

> do the drive to Cleveland with a VCR, it will be well worth it to

ensure that

> you are getting the best information possible!!

>

> BTW, we, too, have seen Dr. Cohen, though he did not do 's

biopsy. I

> thought he was extremely competant and knowledgeable. Dr. Cohen

tailored

> 's vitamin/supplement program. I think you will feel it is

worth the

> effort if you decide to go.

>

> Kathy C.

> mom to and

[Guest guest]

on 3/31/00 1:13 PM, Beth Mortl wrote:

>

> I explained what I had read over the past month on the list about

> frozen vs. fresh and he said its nonsense. He said that you never

> hear from the people who had positive results from frozen or ones

> that

> had negative results from both fresh and frozen; and that you only

> hear stories of fresh being positive when the frozen wasn't - when it

> was years later that the fresh was done and the disease progressed.

Our two biopsies (frozen (negative) and then fresh (positive)) were done

about 8 months apart.

>

> Who was writing me about wrapping their daughter in a blanket while

> she was screaming. Why is this necessary? Don't you just put them

> out and then run all the tests and take the biopsy?

>

I wrote about the blanket wrap. We had to do this because we couldn't even

get a needle near her to put her out. None of the drugs like Versed or

Chloral Hydrate work on her so we couldn't even make her drowsy first. We

also had to do many blood tests.

>

--

Lou

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

[Guest guest]

Thanks Lou. Sorry that I forgot you wrote that and I'm sorry

your daughter had to go through that. It is so hard when they don't

understand and fight so hard. Versed makes Clayton slower and a

little weaker to fight, but there is some evidence out there that it

is not good for autistics brains. Chloral hydrate doesn't work for

us

either. Makes him more aggressive and it burns going down. He has

reflux. I don't know why they use that drug anymore. Its really

horribly painful to take.

Thanks for the info and again, forgive me.

Beth

>

> >

> > I explained what I had read over the past month on the list about

> > frozen vs. fresh and he said its nonsense. He said that you never

> > hear from the people who had positive results from frozen or ones

> > that

> > had negative results from both fresh and frozen; and that you only

> > hear stories of fresh being positive when the frozen wasn't -

when

it

> > was years later that the fresh was done and the disease

progressed.

>

> Our two biopsies (frozen (negative) and then fresh (positive)) were

done

> about 8 months apart.

> >

> > Who was writing me about wrapping their daughter in a blanket

while

> > she was screaming. Why is this necessary? Don't you just put

them

> > out and then run all the tests and take the biopsy?

> >

> I wrote about the blanket wrap. We had to do this because we

couldn't even

> get a needle near her to put her out. None of the drugs like

Versed

or

> Chloral Hydrate work on her so we couldn't even make her drowsy

first. We

> also had to do many blood tests.

> >

>

> --

> Lou

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

active boys)

[Guest guest]

Beth, I am glad that the doctor will stand b you wherever you go. That is

so important.

>

> I explained what I had read over the past month on the list about

> frozen vs. fresh and he said its nonsense.

Hardly! I'm sorry but this is what defeats progress in the field of

mitochondrial disease - physicians perpetuating information that is

inaccurate. He is absolutely right that frozen biopsies can give very

accurate results but the degree of reliability and validity is not equal

and this is a scientific fact. I would be more than happy to share with

you for his benefit the written documentation I have of this when we meet.

I respect if his opinion is that you can do just as well with a frozen

biopsy but his job is to give you the scientific facts and present his

opinion as just that.

Ps you're not upsetting me by the way and I doubt you are upsetting

anyone. - I just have to dispute him when he says that this is nonsense.

Anne

[Guest guest]

In a message dated 3/31/00 4:02:26 PM Eastern Standard Time,

juhlmann@... writes:

<< My advice is always to identify whoever it is you trust the most and has

similar

philosophy about the care of your child and ask that person to be the team

leader regardless of specialty or depth of knowledge.

Anne

>>

Very good advice Anne! 's ped has been that doctor for us and he

consults with whomever he needs to - 's neuro, GI doc, immunologist, etc.

But he is the one who I trust explicitly .... he cares so much for and

our family. If he doesn't know the answer, he will go find someone who does!

Mom to , 12

[Guest guest]

Dear beth,

I APPLAUD your common sense approach in taking yuor time to decide which

tests are really necessary and worth doing! There are sooooo many tests that

we ALL could run on our kids but I agree that we need to make INFORMED

choices!! When you have finished gathering all of your info, then you can

decide whether or not the emg is worth it.

Hang in there--sounds to me that you are doing EVERYTHING right!

ruth

[Guest guest]

In a message dated 03/31/2000 5:06:43 PM Eastern Daylight Time,

clayboy@... writes:

> I explained what I had read over the past month on the list about

> frozen vs. fresh and he said its nonsense. He said that you never

> hear from the people who had positive results from frozen or ones

> that

> had negative results from both fresh and frozen; and that you only

> hear stories of fresh being positive when the frozen wasn't - when it

> was years later that the fresh was done and the disease progressed.

> I

> didn't want to write all of that because I didn't want to piss

> (sorry)

> everyone off.

Well . . . I think he is wrong. There is a great article on fresh vs.

frozen, written by one of the mito guys in Atlanta . . . Doug Wallace. He is

a PhD from Emory who has worked with Shoffner. He is the Director of the

Center for Molecular Medicine at Emory University in Atlanta, GA. So this is

one of the guys your doc thinks is good! Anyway, Wallace says that frozen

methods are getting better and more reliable for Complex I, but that freezing

still increases the likelihood of of inactivating these fragile enzymes.

Furthermore, there are some assays that can ONLY be done on fresh muscle

mitochondria . . . " including the coupled complex V-respiration assay, which

is the most reliable way of assaying for a complex V (ATP synthase) defect. "

Here is a link, in case I haven't sent it already, that will give you the

article in which Wallace explains the issues about " Fresh vs. Frozen " . His

bottom line is that you have to try to strike a balance between " obtaining

optimal experimental conditions for the enzyme assays and ensuring the

convenience of the patients and families. " He adds that " the ultimate goal,

however will be to optimize both, through the further refinement of

mitochondrial isolation and assay procedures from frozen tissues. " The

article was written in 1997, so perhaps significant strides have been made

since then to change the reliability of frozen biopsies, however, even if

they have, I would doubt that those new methods would have trickled down to

the average medical center.

This article appeared in the Exceptional Parent publication " Mitochondrial

and Metabolic Disorders: A Primary Physician's Guide " . You can download it

from this link with Adobe software (if you don't have it, there is also a

link to obtain it and it is free!) Might be worth printing it and taking it

to him . . .

<A HREF= " http://biochemgen.ucsd.edu/mmdc/ep-toc.htm " >Physician's Guide to

Mito</A>

Kathy

[Guest guest]

In a message dated 03/31/2000 5:53:46 PM Eastern Daylight Time,

marilou@... writes:

> He said that you never

> > hear from the people who had positive results from frozen or ones

> > that

> > had negative results from both fresh and frozen; and that you only

> > hear stories of fresh being positive when the frozen wasn't - when it

> > was years later that the fresh was done and the disease progressed.

>

Well, I know of one parent on this list who got conclusive results from a

frozen biopsy. Maybe there are more. And no one here thinks it is

impossible to get good results from frozen, just that if you are going to go

through the effort, insurance battles, anethesia and infection risk, pain and

suffering for the child, the recovery period which is supposed to be very

short, but was not so short for my son, the horrible and sometimes long wait

for results, then it might be worth it to travel to someplace that increases

the possibility of detecting the problem. The only addition cost is that of

the travel, and it is a drop in the bucket by comparison to the other

costs!!!!

BTW, don't think anyone is upset with you . . . I am not even upset at your

doc for that matter. I just don't think he is completely informed about what

he is discussing with you. Mine weren't either. Some of them have even

thanked me for providing them with the information now that they have seen

that DID have mito after all.

Kathy

mom to , and Meg.

[Guest guest]

Kathy:

Thanks for the advice and opinion. I appreciate it. I need to hear

all the details of what happens so that I know what I'm getting into

and why.

My doc has a major ego. He won't be thankful that I bring him any

info. He thinks he knows it all and there are a few moms on this list

that had him as a doc and confirmed this. He gave me the Exceptional

Parent articles for the parent and also the Pysician's Guide which

does say fresh is best. He still thinks the frozen are fine.

Now my problem is that Dr. Cohen isn't seeing new patients until July

and how do I tell my ego doc that I want a second opinion. What I

may

do is have my doc here set up the biopsy for me in Cleveland which he

said he'd do. And get that part done and then in the meantime try

and

contact Dr. Cohen myself and see if he'll fit us in for an appt

while

we are there. Lots of details to work out. But I must say I am much

more confident doing this travel with the understanding of why it is

important.

Kathy I think you are really right when you say, if you're going to

put your kid through all of this, do it with the best possibility of

positive results.

Thanks so much to everyone for your help.

Beth

> In a message dated 03/31/2000 5:53:46 PM Eastern Daylight Time,

> marilou@... writes:

>

> > He said that you never

> > > hear from the people who had positive results from frozen or

ones

> > > that

> > > had negative results from both fresh and frozen; and that you

only

> > > hear stories of fresh being positive when the frozen wasn't -

when it

> > > was years later that the fresh was done and the disease

progressed.

> >

>

> Well, I know of one parent on this list who got conclusive results

from a

> frozen biopsy. Maybe there are more. And no one here thinks it is

> impossible to get good results from frozen, just that if you are

going to go

> through the effort, insurance battles, anethesia and infection

risk,

pain and

> suffering for the child, the recovery period which is supposed to

be

very

> short, but was not so short for my son, the horrible and sometimes

long wait

> for results, then it might be worth it to travel to someplace that

increases

> the possibility of detecting the problem. The only addition cost

is

that of

> the travel, and it is a drop in the bucket by comparison to the

other

> costs!!!!

>

> BTW, don't think anyone is upset with you . . . I am not even upset

at your

> doc for that matter. I just don't think he is completely informed

about what

> he is discussing with you. Mine weren't either. Some of them have

even

> thanked me for providing them with the information now that they

have seen

> that DID have mito after all.

>

> Kathy

> mom to , and Meg.

[Guest guest]

In a message dated 04/02/2000 11:06:35 PM Eastern Daylight Time,

clayboy@... writes:

> He gave me the Exceptional

> Parent articles for the parent and also the Pysician's Guide which

> does say fresh is best. He still thinks the frozen are fine.

>

Isn't that ironic!?!

Oh, well. At least you feel he will support whatever you decide. Me, too,

for that matter!

Wish I could help you with more details about what the process is for the

biopsies in Cleveland. Though we have seen Cohen, 's biopsy was in

Atlanta.

Kathy

[Guest guest]

Beth: Your story just reinforces what we've heard from our A list

doctors before, that pregnancy with scar tissue in place can often

(but not always- is proof of that!) lead to miscarriage.

Please remind me, have you had surgery in an attempt to remove your

remaining scar tissue and septum or was it decided that it was best

to leave it there?

As for the methoxidate or whatever it is called, why would this have

a risk of rupture? Forgive me, I don't know much about this drug. I

assume it causes contractions to expell the " products " of the missed

abortion, but with an early pregnancy loss would there really be a

risk of rupture? Does anyone have any information on this?

Hang in there Beth, I hope your doctor has a solution for you OTHER

than recommending a D & C!

Gwen