My weekend & diagnostic testing

[Guest guest]

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

[Guest guest]

Malisa

Congrats on the committment ceremony.

laurie

> Hi all,

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

> fiance on Saturday.

[Guest guest]

---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

[Guest guest]

What a beautiful picture! I am so glad everything was in place for

you, the results coming back Friday were an extra treat!

I wish you all the love and companionship that could be, you and Dave

and your happiness were in our thoughts on Saturday

Take care,

RH

> 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