New here with a question about where to go for muscle biopsy

[Guest guest]

Hello--

My son is 4--globally delayed, hypotonic, with orthopedic issues.

We've seen the usual slew of specialists--neuro, genetics, etc.

About 2 years ago he had an MRI that came back with a finding of

periventricular leukomalacia (PVL), believed to have been suffered in

utero but with cause unknown. The doctors' going theory until this

point is that the PVL could explain all of our son's various issues.

He had 2 brain MRIs, extensive labwork (metabolic studies, specific

genetic syndromes, karyotype, etc.). Everything has come back normal

except for the MRI showing the brain damage. We'd considered getting

a muscle biopsy done but doctors and I agreed that this didn't seem

to be necessary after the PVL finding. He's making slow but steady

progress in all areas, with speech being the slowest. Hypotonia has

improved quite a bit since birth. He's doing well in preschool and

we have never seen any signs of regression, even when he's been ill.

However, we recently went for a second opinion in genetics, and the

doctor is recommending that we go ahead with the muscle biopsy b/c my

son's orthopedic problems (bilateral hip dysplasia and equinovarious

feet) were not present at birth, but developed afterwards. I don't

quite understand what the doctor means by this, but he says that the

fact that they weren't this way when ds was born suggests to him that

there could be something metabolic going on. (This is sort of

opposite from the way I've heard orthopedics explain it.) Our main

reason for going back to genetics was to get some idea of what our

risk would be in any future children, and the biopsy would be done

for this reason, more than b/c something has changed in my son's

condition. I've heard about the fresh vs. frozen tissue debate when

it comes to muscle biopsies, and also have heard people speak very

highly of Dr. Bruce Cohen at Cleveland Clinic. He would be the

closest of the " mito docs " that I know of (we are in southeast

Michigan, so Dr. Schoffner would be much farther away). When I

called Dr. Cohen's office though, his secretary said that he isn't

taking new patients. So does anyone have some advice as to where to

go to have the biopsy and testing? I don't want to have the biopsy

done at our hospital and sent out for testing, and then 5 years from

now find out that " fresh is best " , if you know what I mean. (I don't

know if it's against the rules here to discuss specific hospitals or

doctors so if it is, please let me know and I would be happy to get

any information by email.)

I am a little shaken by the fact that talk of " muscle biopsy "

and " metabolic/mito disorder " has suddenly come back into our lives.

We haven't been actively searching for a diagnosis for my son for 2

years now--as long as we found " something " as we did with the PVL,

and he's been making progress, I'd gotten to a point where I felt at

peace with not searching anymore.

Thank you for any advice that you have !

[Guest guest]

Welcome to the group. Sorry I can't offer too much advice on hospitals and locations for muscle biopsies, as you already seem to know what I do. Our daughter does see Dr. Cohen, but have heard the same as you regarding new patients. I guess he does have some fellows, that see new patients, but have heard very negative reports on them from others in this group. I would think your next best option would be Dr. Shoffner in Atlanta, he is highly respected. I understand travel would be hard, but maybe worth it.

Best wishes

Find e-mail and documents on your PC instantly with the new MSN Toolbar Suite beta–FREE!

[Guest guest]

,

My heart is with you as I read your turmoil over this decision. For us our geneticist left it up to us to do a biopsy. We had a frozen one done as we live in washington state. We had to travel the hour and a half to go to the hospital where they know how to handle the specimen right and also knew where to send it. We got our results today. Positive for mito.

It is really hard to know what to do, and all I can say is pray about it and trust your heart. These precious children deserve to have the best life possible. Some times it means looking a little further, not that we really want to, but to give them the best.

You are in my prayers,

kebc77 wrote:

Hello--My son is 4--globally delayed, hypotonic, with orthopedic issues. We've seen the usual slew of specialists--neuro, genetics, etc. About 2 years ago he had an MRI that came back with a finding of periventricular leukomalacia (PVL), believed to have been suffered in utero but with cause unknown. The doctors' going theory until this point is that the PVL could explain all of our son's various issues. He had 2 brain MRIs, extensive labwork (metabolic studies, specific genetic syndromes, karyotype, etc.). Everything has come back normal except for the MRI showing the brain damage. We'd considered getting a muscle biopsy done but doctors and I agreed that this didn't seem to be necessary after the PVL finding. He's making slow but steady progress in all areas, with speech being

the slowest. Hypotonia has improved quite a bit since birth. He's doing well in preschool and we have never seen any signs of regression, even when he's been ill. However, we recently went for a second opinion in genetics, and the doctor is recommending that we go ahead with the muscle biopsy b/c my son's orthopedic problems (bilateral hip dysplasia and equinovarious feet) were not present at birth, but developed afterwards. I don't quite understand what the doctor means by this, but he says that the fact that they weren't this way when ds was born suggests to him that there could be something metabolic going on. (This is sort of opposite from the way I've heard orthopedics explain it.) Our main reason for going back to genetics was to get some idea of what our risk would be in any future children, and the biopsy would be done for this reason, more than b/c something has changed in my son's

condition. I've heard about the fresh vs. frozen tissue debate when it comes to muscle biopsies, and also have heard people speak very highly of Dr. Bruce Cohen at Cleveland Clinic. He would be the closest of the "mito docs" that I know of (we are in southeast Michigan, so Dr. Schoffner would be much farther away). When I called Dr. Cohen's office though, his secretary said that he isn't taking new patients. So does anyone have some advice as to where to go to have the biopsy and testing? I don't want to have the biopsy done at our hospital and sent out for testing, and then 5 years from now find out that "fresh is best", if you know what I mean. (I don't know if it's against the rules here to discuss specific hospitals or doctors so if it is, please let me know and I would be happy to get any information by email.)I am a little shaken by the fact that talk of "muscle biopsy" and

"metabolic/mito disorder" has suddenly come back into our lives. We haven't been actively searching for a diagnosis for my son for 2 years now--as long as we found "something" as we did with the PVL, and he's been making progress, I'd gotten to a point where I felt at peace with not searching anymore. Thank you for any advice that you have !Please contact mito-owner with any problems or questions. __________________________________________________

[Guest guest]

>Hi . I don't know of the closest place to you for a muscle

biopsy but if you're after a specialist Abbey sees Dr. Kelley

at Kennedy-Krieger (s Hopkins) in Baltimore. We have been

thrilled with him. He is always available to us 7 days a week and his

assistant, is wonderful. We did not have a biopsy done as we

had our diagnosis through labs but since Abbey is having surgery next

month in NC & a biopsy can be processed fresh, we are having one done

at that time as well. I've always been told that fresh is the better

way to go but I would talk to someone before you decide.

Best Wishes

> Hello--

>

> My son is 4--globally delayed, hypotonic, with orthopedic issues.

> We've seen the usual slew of specialists--neuro, genetics, etc.

> About 2 years ago he had an MRI that came back with a finding of

> periventricular leukomalacia (PVL), believed to have been suffered

in

> utero but with cause unknown. The doctors' going theory until this

> point is that the PVL could explain all of our son's various

issues.

> He had 2 brain MRIs, extensive labwork (metabolic studies, specific

> genetic syndromes, karyotype, etc.). Everything has come back

normal

> except for the MRI showing the brain damage. We'd considered

getting

> a muscle biopsy done but doctors and I agreed that this didn't seem

> to be necessary after the PVL finding. He's making slow but steady

> progress in all areas, with speech being the slowest. Hypotonia

has

> improved quite a bit since birth. He's doing well in preschool and

> we have never seen any signs of regression, even when he's been

ill.

>

> However, we recently went for a second opinion in genetics, and the

> doctor is recommending that we go ahead with the muscle biopsy b/c

my

> son's orthopedic problems (bilateral hip dysplasia and

equinovarious

> feet) were not present at birth, but developed afterwards. I don't

> quite understand what the doctor means by this, but he says that

the

> fact that they weren't this way when ds was born suggests to him

that

> there could be something metabolic going on. (This is sort of

> opposite from the way I've heard orthopedics explain it.) Our main

> reason for going back to genetics was to get some idea of what our

> risk would be in any future children, and the biopsy would be done

> for this reason, more than b/c something has changed in my son's

> condition. I've heard about the fresh vs. frozen tissue debate

when

> it comes to muscle biopsies, and also have heard people speak very

> highly of Dr. Bruce Cohen at Cleveland Clinic. He would be the

> closest of the " mito docs " that I know of (we are in southeast

> Michigan, so Dr. Schoffner would be much farther away). When I

> called Dr. Cohen's office though, his secretary said that he isn't

> taking new patients. So does anyone have some advice as to where

to

> go to have the biopsy and testing? I don't want to have the biopsy

> done at our hospital and sent out for testing, and then 5 years

from

> now find out that " fresh is best " , if you know what I mean. (I

don't

> know if it's against the rules here to discuss specific hospitals

or

> doctors so if it is, please let me know and I would be happy to get

> any information by email.)

>

> I am a little shaken by the fact that talk of " muscle biopsy "

> and " metabolic/mito disorder " has suddenly come back into our

lives.

> We haven't been actively searching for a diagnosis for my son for 2

> years now--as long as we found " something " as we did with the PVL,

> and he's been making progress, I'd gotten to a point where I felt

at

> peace with not searching anymore.

>

> Thank you for any advice that you have !

>

>