Re: Muscle Biopsy Results...RH

[Guest guest]

Dr. Simpson is having a fresh biopsy taken from me at Cleveland Clinic to test

for Oxidative and Complex I or III disorders because my frozen biopsy at OSU did

not yield ragged red fibers.

ohgminion rakshasis@...> wrote:

Same thing in Georgia - there was a person from Dr. Shoffner's office

witnessing the surgery, waiting for the muscle biopsy sample, so they

could rush it over immediately for testing and prep for other labs.

Take care,

RH

> >

> >

> > Well after a long wait, I've finally received the results from my

> > muscle biopsy and it appears that mitochondrial disorders have

been

> > ruled out. I know the doctors at UCLA were pretty surprised at

the

> > results as they were all but certain that I was dealing with a

> > mitochondrial issue of some sort.

> >

> > The biopsy did reveal significant denervation of my muscle tissue

> so

> > I'm back to where I started from in terms of having some sort of

> > neurological disorder. What surprised my doctors was the fact

that

> > the EMG and NCV studies failed to pick up signs of significant

> nerve

> > damage when the biopsy indicated some pretty major problems.

> >

> > I get to go in for more testing in order to pinpoint the problem

> but

> > now things are pointing towards an autoimmune disease. As a

> result,

> > I'll be searching out a support group focusing on this problem.

> >

> > I've benefited much from this site. All of the members are

> > awesome

> > in how they provide information and support for dealing with such

a

> > frustrating disorder.

> >

> > I do want to leave with some advice for all of those members that

> > remain undiagnosed. I to know the frustration of dealing with

> > doctors that think you are crazy and it's key to search out those

> > good physicians that are willing to listen. No rational person

> would

> > ever want such debilitating disorders and I have a tough time

> > understanding some doctors' attitudes.

> >

> > I've also learned a valuable lesson in persisting with tests to

> > identify the specific disorder that one is facing. Many

> > neuromuscular and mitochondrial disorders have overlapping

symptoms

> > and test results. Some of the tests that we endure for the

> > diagnostic process are not fun but I think it is worthwhile to go

> > through with the testing even if you are suspected of having a

> > condition that has limited treatment options.

> >

> > I had the option of not having the muscle biopsy and had I not

gone

> > through with it, I would probably have received a " probable

> > mitochondrial disorder " diagnosis. The doctors were absolutely

> > positive that this was the problem and only wanted the biopsy to

> > determine what type of mito disorder I was dealing with. Even

> though

> > my situation may not be the norm, the added testing has prevented

> me

> > from starting a treatment regimen that would have offered no

> > benefit.

> >

> > I encourage everyone to persist until they get a specific answer

on

> > whatever condition they might have. As medicine continues to

> > advance, specific knowledge as to ones condition can only help as

> new

> > advances in treatment options are developed.

> >

> > All the best to everyone as we head into the New Year.

> >

> > Bob

> >

> >

> >

> >

> >

> >

> >

> >

> >

> > Medical advice, information, opinions, data and statements

> contained herein are not necessarily those of the list moderators.

> The author of this e mail is entirely responsible for its content.

> List members are reminded of their responsibility to evaluate the

> content of the postings and consult with their physicians regarding

> changes in their own treatment.

> >

> > Personal attacks are not permitted on the list and anyone who

sends

> one is automatically moderated or removed depending on the severity

> of the attack.

> >

> >

> >

> >

[Guest guest]

I didn't have ragged red fibers noted in my fresh muscle biopsy from

Dr. Shoffner's office, but had a complete (0% activity) Complex I

defect.

Take care,

RH

> > >

> > >

> > > Well after a long wait, I've finally received the results from

my

> > > muscle biopsy and it appears that mitochondrial disorders have

> been

> > > ruled out. I know the doctors at UCLA were pretty surprised at

> the

> > > results as they were all but certain that I was dealing with a

> > > mitochondrial issue of some sort.

> > >

> > > The biopsy did reveal significant denervation of my muscle

tissue

> > so

> > > I'm back to where I started from in terms of having some sort

of

> > > neurological disorder. What surprised my doctors was the fact

> that

> > > the EMG and NCV studies failed to pick up signs of significant

> > nerve

> > > damage when the biopsy indicated some pretty major problems.

> > >

> > > I get to go in for more testing in order to pinpoint the

problem

> > but

> > > now things are pointing towards an autoimmune disease. As a

> > result,

> > > I'll be searching out a support group focusing on this problem.

> > >

> > > I've benefited much from this site. All of the members are

> > > awesome

> > > in how they provide information and support for dealing with

such

> a

> > > frustrating disorder.

> > >

> > > I do want to leave with some advice for all of those members

that

> > > remain undiagnosed. I to know the frustration of dealing with

> > > doctors that think you are crazy and it's key to search out

those

> > > good physicians that are willing to listen. No rational person

> > would

> > > ever want such debilitating disorders and I have a tough time

> > > understanding some doctors' attitudes.

> > >

> > > I've also learned a valuable lesson in persisting with tests to

> > > identify the specific disorder that one is facing. Many

> > > neuromuscular and mitochondrial disorders have overlapping

> symptoms

> > > and test results. Some of the tests that we endure for the

> > > diagnostic process are not fun but I think it is worthwhile to

go

> > > through with the testing even if you are suspected of having a

> > > condition that has limited treatment options.

> > >

> > > I had the option of not having the muscle biopsy and had I not

> gone

> > > through with it, I would probably have received a " probable

> > > mitochondrial disorder " diagnosis. The doctors were absolutely

> > > positive that this was the problem and only wanted the biopsy

to

> > > determine what type of mito disorder I was dealing with. Even

> > though

> > > my situation may not be the norm, the added testing has

prevented

> > me

> > > from starting a treatment regimen that would have offered no

> > > benefit.

> > >

> > > I encourage everyone to persist until they get a specific

answer

> on

> > > whatever condition they might have. As medicine continues to

> > > advance, specific knowledge as to ones condition can only help

as

> > new

> > > advances in treatment options are developed.

> > >

> > > All the best to everyone as we head into the New Year.

> > >

> > > Bob

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > >

> > > Medical advice, information, opinions, data and statements

> > contained herein are not necessarily those of the list

moderators.

> > The author of this e mail is entirely responsible for its

content.

> > List members are reminded of their responsibility to evaluate the

> > content of the postings and consult with their physicians

regarding

> > changes in their own treatment.

> > >

> > > Personal attacks are not permitted on the list and anyone who

> sends

> > one is automatically moderated or removed depending on the

severity

> > of the attack.

> > >

> > >

> > >

> > >