Re: To Biopsy or Not to Biopsy????

[Guest guest]

In a message dated 99-04-09 19:37:45 EDT, you write:

<< And I have been thinking of one other issue: If all parents opt not to

pursue full testing because there are no effective treatments, then how will

knowledge ever be gained regarding how to treat these kids? I mean, they

will all be floating out there without any concerted effort made towards

figuring out how all of this fits together . . .

I am really struggling with all of this . . . I want to make sure that I

have

really thought through this thoroughly. Please, anyone out there, give me

some feedback to help me make the decision that is right for and for

our

family. I know that there isn't a right or a wrong decision about all of

this . . . that it depends on each family's situation . . . I just need help

processing all of this!!!!

Thanks!!!!

Kathy

Dear KAthy:

You have done a good job of listening and learning the doc's perspective, now

the really hard work is to decide if you want to put him through the testing.

It is a very personal decision and I do not envey you this decision.

Our daughter, Amy has had two biopsies... one (1991) frozen- sent to Shoffner

when he was at Emory and a Fresh (1997) biopsy- done at UCSD with Haas and

Naviaux.

I am VERY glad that we did BOTH of these tests! We still don't have a

definative diagnosis, but I know that every possable, up-to-date avanew has

been looked at under the paverbeal microscope. I will never have to ask

myself if I could have, should have, would have. We are giving Amy

everything we can to diagnose, treat, and provide the highest quality of life

possable.

HOWEVER, this is not the way EVERYONE looks at testing and I respect their

right to have their view. I am not them and do not have to live with their

decisions...they do. They may feel perfectly fine not pursueing the testing.

And hay, I am OK with that.

Sooooo? Where does this leave you? I don't know! But what ever you decide

try not to have regrets.

As I said, I don't envey you this decision.

Lynnie

[Guest guest]

Kathy writes: " For those of you who opted to pursue a biopsy . . . was it

really as

" anti-climatic " as he makes it out to be? "

Hi, Kathy -

My OXPHOS was already suspected by Dr. Shoffner after our first consultation

years ago, and he mentioned the possibility of trying CoQ10. At that time,

we discussed the option of a biopsy, but he spent as much time discussing the

cons as he did the pros. It took me several years to decide to go ahead and

pursue it. Although the biopsy is what revealed my Centronuclear Myopathy, I

don't think it contributed anything further toward the OXPHOS diagnosis --

for the OXPHOS, it was my bloodwork that confirmed Dr. Shoffner's hunch.

So I think my experience with OXPHOS pretty much parallels yours, so far. The

only initial suggestion for treatment was CoQ10, 300-400 mg. a day. After the

biopsy and bloodwork, the suggested amount was increased, but that's

the only change.

I don't think you can really go wrong either way, Kathy. It's a matter of

weighing the benefits and risks to your child, your family, and others. I

really respect you for having the concern and heart to consider all those

factors -- the decision likely will hinge on what weight you end up giving to

each factor.

You have available two good decisions. The only bad decision would be

second-guessing yourself after choosing one of them.

My non-medical opinion.

[Guest guest]

Thank you all so very much for your responses!!!! I think we have made a

decision to pursue the biopsy. The primary driving factor for that is that

we believe that it will improve the quality of care that receives even

if it only causes the doctors to look a little more closely or take things a

little more seriously when is sick or in crisis. But there are still

other reasons that are valid, even if not equal in weight to the primary

reason--for family members to have information to make informed choices, to

have some validation that we are not crazy . . . that does indeed have

SOMETHING, and to ensure that this is not a faceless, nameless disorder in

which there is no reason to conduct scientific inquiry--that there are

wonderful people with this terrible disorder that is probably not as uncommon

as they think.

I do believe that this is the right choice for us . . . though, like all of

you have expressed, not necessarily the right choice for everyone.

Again thank you all so very much for your help!!

Kathy

[Guest guest]

Thank you all so very much for your responses!!!! I think we have made a

decision to pursue the biopsy. The primary driving factor for that is that

we believe that it will improve the quality of care that receives even

if it only causes the doctors to look a little more closely or take things a

little more seriously when is sick or in crisis. But there are still

other reasons that are valid, even if not equal in weight to the primary

reason--for family members to have information to make informed choices, to

have some validation that we are not crazy . . . that does indeed have

SOMETHING, and to ensure that this is not a faceless, nameless disorder in

which there is no reason to conduct scientific inquiry--that there are

wonderful people with this terrible disorder that is probably not as uncommon

as they think.

I do believe that this is the right choice for us . . . though, like all of

you have expressed, not necessarily the right choice for everyone.

Again thank you all so very much for your help!!

Kathy

[Guest guest]

Kathy-

My own experience was to go to Atlanta and have the biopsy suggested.

This is a real change of gears. Does he feel the risk to is too

great?

For me, having a definitive diagnosis has been a positive thing. I still

don't have the DNA test results back, but if it is in the mtDNA, I was

told that the blood of relatives could be tested to determine if they

have it. Knowing if it is maternal or nuclear will help the young adults

of mine and of my siblings to make more informed decisions about having

children. It has also made a very big difference in the medical care I

have received. Doctors now treat me seriously instead of saying that

things can't be so or that the symptoms are in my head. I was also able

to get my insurance to pay a portion of my CoQ10. My insurance is now

approving things for me that would have otherwise been a real hasstle

over each item. It also created closure for me after searching for a

diagnosis for more than 15 years.

I know the reasons are different for each family and it has to be each

families choice, but for me, the biopsy was well worth the results of

having the diagnosis.

Good luck with what must be a hard decision.

Laurie

[Guest guest]

In a message dated 4/9/99 8:06:13 PM Eastern Daylight Time,

lfitzger@... writes:

<< My own experience was to go to Atlanta and have the biopsy suggested.

This is a real change of gears. Does he feel the risk to is too

great? >>

Laurie -

Sorry - somehow I missed responding to you . . . hopefully I have gotten to

everyone else . . .

I don't think that he feels the risk is too great for . . . he has been

under general anethesia for bi-lat vent tubes, an endoscopy, and

fundoplication and g-tube placement, all without any problems. 's weight

is really pretty decent now (since g-tube placement).

I think that the difference in approach may have something to do with which

doctor is conducting the consult, apparently. I think that Dr. Krawieki

wants parents to go into it with their eyes open, ensuring that they have

considered every aspect of the decision. I guess that is appropriate, though

it would be nice if it could somehow be made easier. However, no matter how

you look at it, this is not an easy topic to think about, discuss, or move

on.

Thanks for your input!!! I really needed to hear from parents who have been

there!!! Meant the world to me!

Kathy

[Guest guest]

Kathy-

I'll be thinking about as he has his biopsy. Hang in there.

Laurie