Re: Re: My weekend & diagnostic testing

[Guest guest]

The doc who did my sisters mucscle biopsy did it on her ankle I believe. He

said that the tissue was very, very affected. He told me this after we got my

blood work back. He said if they did a biopsy on my tissue it would depend on

what area was affected.

Janet Sample

Re: My weekend & diagnostic testing

---Interesting information, thanks for sharing. Like Dr Korsen said

if they could take a muscle biopsy of your gut it would show

something. With others with varying results...it seems like the

muscle tissues are all affected differently.

My muscle biopsy was taken from my vastus lateralis, which extends

the knee. That is one of my strongest muscles. I was told it did not

make a difference, but i question that. It was abnormal but

definitive diagnosis. So do muscle biopsies show more as the disease

progress? If it does, it would make sense that tissues samples

throughout the body may vary.

DawnAnich

In , Malilibear@a... wrote:

> Hi all,

> I am just catching up on e-mails. I had a commitment ceremony with

my

> fiance on Saturday. It was an amazing, magical day. If you want

to

> see pictures, you can go to my website at:

> www.caringbridge.org/pa/malisa

>

> In response to someone who posted about getting a diagnosis, I

have had

> symptoms of mito for 13 yrs and went to Atlanta to have a muscle

biopsy

> two years ago. The results came back negative, but my

mitochondrial

> specialist still felt strongly that I still had mito. We did a

skin

> biopsy recently and the results JUST came back on Friday. They

showed

> that the lactate/pyruvate ratio in my skin is markedly abnormal at

70

> (normal is 17 or less). My mito doctor says this is very strong

> evidence that I have a mito disorder. We don't have the

respiratory

> chain analysis back yet but I am hoping that it will show which

> complexes are affected. This has been a very long struggle for a

> confirmed diagnosis even though I have had a clinical diagnosis of

mito

> for several years. Luckily, I am at the point now where my

physicians

> don't question the diagnosis even though it wasn't confirmed via

muscle

> biopsy. But, I know some people have doctors who are constantly

> questionning whether mito is what they have. I think, in those

> circumstances, having a diagnosis is really helpful for the

patient, so

> you don't have to explain WHY you/your doctors believe you have

mito

> each time. Once you have a confirmed diagnosis, it isn't left to

new

> specialists to determine how to change around your treatment b/c

they

> don't believe you have mito. Either way, it's a highly personal

> decision whether to keep pursuing testing for it.

>

> Have any other people had abnormal skiin biopsies that helped

point

> them towards the mito diagnosis?

>

> Thanks.

> Malisa

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

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Personal attacks are not permitted on the list and anyone who sends one is

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[Guest guest]

Dawn, one of my six muscle biopsies was also on the vastus lateralis, and it

had exactly the same abnormal biochemical and histological findings as all

my other muscles. So in my case, it didn't matter which muscle was

selected--they all agreed. Because my disorders originate in nuclear DNA,

heteroplasmy is not an issue. All my muscles have very similar biochemical

derangement even though there may be some variation on how much atrophy one

sees in a given piece of tissue or how much localized excess lipid storage,

etc. But even those things have not varied much for me from muscle to muscle

or year to year or lab to lab. My findings have been remarkable consistent,

which is reassures me that they are indeed accurate.

Barbara

> Re: My weekend & diagnostic testing

>

> ---Interesting information, thanks for sharing. Like Dr Korsen said

> if they could take a muscle biopsy of your gut it would show

> something. With others with varying results...it seems like the

> muscle tissues are all affected differently.

>

> My muscle biopsy was taken from my vastus lateralis, which extends

> the knee. That is one of my strongest muscles. I was told it did not

> make a difference, but i question that. It was abnormal but

> definitive diagnosis. So do muscle biopsies show more as the disease

> progress? If it does, it would make sense that tissues samples

> throughout the body may vary.

>

> DawnAnich

>

>

>

>

>

>

> In , Malilibear@a... wrote:

> > Hi all,

> > I am just catching up on e-mails. I had a commitment ceremony with

> my

> > fiance on Saturday. It was an amazing, magical day. If you want

> to

> > see pictures, you can go to my website at:

> > www.caringbridge.org/pa/malisa

> >

> > In response to someone who posted about getting a diagnosis, I

> have had

> > symptoms of mito for 13 yrs and went to Atlanta to have a muscle

> biopsy

> > two years ago. The results came back negative, but my

> mitochondrial

> > specialist still felt strongly that I still had mito. We did a

> skin

> > biopsy recently and the results JUST came back on Friday. They

> showed

> > that the lactate/pyruvate ratio in my skin is markedly abnormal at

> 70

> > (normal is 17 or less). My mito doctor says this is very strong

> > evidence that I have a mito disorder. We don't have the

> respiratory

> > chain analysis back yet but I am hoping that it will show which

> > complexes are affected. This has been a very long struggle for a

> > confirmed diagnosis even though I have had a clinical diagnosis of

> mito

> > for several years. Luckily, I am at the point now where my

> physicians

> > don't question the diagnosis even though it wasn't confirmed via

> muscle

> > biopsy. But, I know some people have doctors who are constantly

> > questionning whether mito is what they have. I think, in those

> > circumstances, having a diagnosis is really helpful for the

> patient, so

> > you don't have to explain WHY you/your doctors believe you have

> mito

> > each time. Once you have a confirmed diagnosis, it isn't left to

> new

> > specialists to determine how to change around your treatment b/c

> they

> > don't believe you have mito. Either way, it's a highly personal

> > decision whether to keep pursuing testing for it.

> >

> > Have any other people had abnormal skiin biopsies that helped

> point

> > them towards the mito diagnosis?

> >

> > Thanks.

> > Malisa

>

>

>

>

>

> 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 was told by Dr. C when my daughter's biopsy was done that we either

took it too soon, (not enough damage done through progression) or the

right muscle wasn't taken (the damaged part). There is no way to know

for sure if the muscle they pick will show mito or not. There is no

doubt in his mind though that she has it with other results and family

history.

dawnanich wrote:

>---Interesting information, thanks for sharing. Like Dr Korsen said

>if they could take a muscle biopsy of your gut it would show

>something. With others with varying results...it seems like the

>muscle tissues are all affected differently.

>

>My muscle biopsy was taken from my vastus lateralis, which extends

>the knee. That is one of my strongest muscles. I was told it did not

>make a difference, but i question that. It was abnormal but

>definitive diagnosis. So do muscle biopsies show more as the disease

>progress? If it does, it would make sense that tissues samples

>throughout the body may vary.

>

>DawnAnich

>

>

>

>

>

>

> In , Malilibear@a... wrote:

>

>

>>Hi all,

>>I am just catching up on e-mails. I had a commitment ceremony with

>>

>>

>my

>

>

>>fiance on Saturday. It was an amazing, magical day. If you want

>>

>>

>to

>

>

>>see pictures, you can go to my website at:

>>www.caringbridge.org/pa/malisa

>>

>>In response to someone who posted about getting a diagnosis, I

>>

>>

>have had

>

>

>>symptoms of mito for 13 yrs and went to Atlanta to have a muscle

>>

>>

>biopsy

>

>

>>two years ago. The results came back negative, but my

>>

>>

>mitochondrial

>

>

>>specialist still felt strongly that I still had mito. We did a

>>

>>

>skin

>

>

>>biopsy recently and the results JUST came back on Friday. They

>>

>>

>showed

>

>

>>that the lactate/pyruvate ratio in my skin is markedly abnormal at

>>

>>

>70

>

>

>>(normal is 17 or less). My mito doctor says this is very strong

>>evidence that I have a mito disorder. We don't have the

>>

>>

>respiratory

>

>

>>chain analysis back yet but I am hoping that it will show which

>>complexes are affected. This has been a very long struggle for a

>>confirmed diagnosis even though I have had a clinical diagnosis of

>>

>>

>mito

>

>

>>for several years. Luckily, I am at the point now where my

>>

>>

>physicians

>

>

>>don't question the diagnosis even though it wasn't confirmed via

>>

>>

>muscle

>

>

>>biopsy. But, I know some people have doctors who are constantly

>>questionning whether mito is what they have. I think, in those

>>circumstances, having a diagnosis is really helpful for the

>>

>>

>patient, so

>

>

>>you don't have to explain WHY you/your doctors believe you have

>>

>>

>mito

>

>

>>each time. Once you have a confirmed diagnosis, it isn't left to

>>

>>

>new

>

>

>>specialists to determine how to change around your treatment b/c

>>

>>

>they

>

>

>>don't believe you have mito. Either way, it's a highly personal

>>decision whether to keep pursuing testing for it.

>>

>>Have any other people had abnormal skiin biopsies that helped

>>

>>

>point

>

>

>>them towards the mito diagnosis?

>>

>>Thanks.

>>Malisa

>>

>>

>

>

>

>

>

>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.

>

>