Need help before tomorrow's Genetics appt re fresh vs frozen biopsy

[Guest guest]

Once again (thanks in advance), I need help from all of you wonderful people.

We saw our local neurologist today and while we were on 's MAW trip

last wk, he and the pediatrician agreed that a muscle biopsy is necessary.

However, 2 neuro docs from Childrens in Seattle are leaving this month, so

they are wanting to bypass the EMG and 2nd neuro opinion and just get the

muscle biopsy done. When I talked with the Genetics counselor today (we have

our first appt in Genetics tomorrow at Childrens-Seattle-our " home "

hospital), they said they do a " flash freeze " muscle biopsy and send it to

some pediatric heart/cardiology center in Philadelphia. I told her that I

prefer to have a fresh bx done, based on what I have read on this list. But,

I thought I should be prepared to offer specific information as to " why " (or

why not) a fresh bx is preferable when we see the Genetics doc tomorrow.

Thanks!

Dena, mom to 10 y/o , suspected mito

[Guest guest]

I believe that there is capability to do fresh muscle biopsy in Portland

OR .... and I *know* that it can be done in Vancouver, BC.

Contact me privately for BC information.

Jean

waislandgirl@... wrote:

Once again (thanks in advance), I need help from

all of you wonderful people.

We saw our local neurologist today and while we were on 's

MAW trip

last wk, he and the pediatrician agreed that a muscle biopsy is

necessary.

However, 2 neuro docs from Childrens in Seattle are leaving this

month, so

they are wanting to bypass the EMG and 2nd neuro opinion and just

get the

muscle biopsy done. When I talked with the Genetics counselor

today (we have

our first appt in Genetics tomorrow at Childrens-Seattle-our "home"

hospital), they said they do a "flash freeze" muscle biopsy and

send it to

some pediatric heart/cardiology center in Philadelphia. I

told her that I

prefer to have a fresh bx done, based on what I have read on this

list. But,

I thought I should be prepared to offer specific information as

to "why" (or

why not) a fresh bx is preferable when we see the Genetics doc

tomorrow.

Thanks!

Dena, mom to 10 y/o , suspected mito