Re: The long road to diagnosis, and beyond....

[Guest guest]

In a message dated 7/28/1999 8:08:04 AM Eastern Daylight Time, sawyer@...

writes:

> I think it would be interesting if everyone

> posted about their experience getting a biopsy and diagnosis. We'd

> probably all learn a lot. I'm always interested in hearing about how

> people get a diagnosis, and how they ended up here.

When I was born, none of my conditions had even been discovered, so the

doctors concluded that I was " just a slow baby. " My parents were comfortable

with that diagnosis and never pursued another one, although I was always the

slowest, the last, the tiredest, etc., at everything physical.

I tried at age 25 to get a diagnosis, but the doctor I saw just gave me some

exercises (some good, some not too good) and said there was little he could

do without my birth records, which either the Air Force or my parents had

misplaced.

I tried again about 10 years later and found a brilliant clinician at the

University of Georgia, Dr. Carl , who discovered all sorts of

skeletal-muscular symptoms I wasn't even aware of. He told me I needed a

specialist and suggested we start with the rarest symptoms (my eye muscles).

I suggested we post my symptoms on the Internet first, to see if we could

find any leads. He diligently wrote down all the symptoms for me and I keyed

them in and sent them to a neurology discussion list I'd stumbled across one

day.

An MDA researcher at Harvard, a Ph.D. -- I think his name was Rubin -- wrote

back and said, " It sounds to me like you might have a mitochondrial

disorder. " He suggested I call Dr. s, an MD in Boston.

Dr. s said, " You're in luck -- a primary mitochondrial research center is

right down the road from you " and referred me to a friend of his, Dr.

Newman, a neurological ophthalmologist at Emory.

Dr. Newman suspected a mitochondrial disease and referred me to Dr.

Shoffner for diagnosis and to a surgeon to correct the strabismus. Both were

at Emory at the time.

And then I moved to the Savannah area and my husband changed jobs and I

waited for the good insurance to kick in again. In the meantime, Dr. Shoffner

moved to ish Rite in Atlanta. Once I resumed the process, Aetna said

they didn't consider the biopsy medically necessary. After a year of

haggling, Janice West prevailed -- she discovered another case that Aetna had

already paid for, and they were too embarrassed to say no.

Dr. Shoffner did the biopsy and discovered Centronuclear (Myotubular)

Myopathy or MTM. Some of the lab work indicated an OxPhos disorder, too. Dr.

Shoffner recommended that I see a neurologist once a year to monitor things.

I started seeing Dr. Mikell and Dr. Herbert in Savannah. In the

meantime, I learned that MTM is one of the MDA list of diseases, making me

one of Jerry's -- er -- Grownups!

The surgeon at Emory was encouraging about the surgery at first, but later

became increasingly hesitant to do it, citing MH and neurological bases for

double vision and potential inability of the brain to readjust to normal

sight. Some of you remember my tantrums regarding this matter. Finally,

however, Dr. Mikell recommended that I call Dr. DeVaro in Savannah, and

he's the one did the surgery yesterday!

Thanks again, everyone, for all the prayers and good wishes.

Love,

[Guest guest]

-

I am so very pleased that things went so well for you. I knew that this was

looming, but somehow, I think I missed the date!!! Well, here's hoping for

quick recovery and much improvement of your symptoms!!!

Kathy

mom to and (suspected OxPhos disorder . . . and STILL (patiently)

WAITING on results!)

[Guest guest]

-

I am so very pleased that things went so well for you. I knew that this was

looming, but somehow, I think I missed the date!!! Well, here's hoping for

quick recovery and much improvement of your symptoms!!!

Kathy

mom to and (suspected OxPhos disorder . . . and STILL (patiently)

WAITING on results!)

[Guest guest]

-

I am so very pleased that things went so well for you. I knew that this was

looming, but somehow, I think I missed the date!!! Well, here's hoping for

quick recovery and much improvement of your symptoms!!!

Kathy

mom to and (suspected OxPhos disorder . . . and STILL (patiently)

WAITING on results!)

[Guest guest]

In a message dated 07/31/1999 9:12:11 PM Eastern Daylight Time,

KCorley309@... writes:

> I am so very pleased that things went so well for you. I knew that this

was

> looming, but somehow, I think I missed the date!!! Well, here's hoping

for

> quick recovery and much improvement of your symptoms!!!

Hang, Kathy, with all the procedures we have to keep up with, I'm surprised

we remember our OWN surgery dates! Mito parents probably do end up forgetting

to take care of themselves from time to time.

Love,

[Guest guest]

In a message dated 07/31/1999 9:12:11 PM Eastern Daylight Time,

KCorley309@... writes:

> I am so very pleased that things went so well for you. I knew that this

was

> looming, but somehow, I think I missed the date!!! Well, here's hoping

for

> quick recovery and much improvement of your symptoms!!!

Hang, Kathy, with all the procedures we have to keep up with, I'm surprised

we remember our OWN surgery dates! Mito parents probably do end up forgetting

to take care of themselves from time to time.

Love,

[Guest guest]

In a message dated 07/31/1999 9:12:11 PM Eastern Daylight Time,

KCorley309@... writes:

> I am so very pleased that things went so well for you. I knew that this

was

> looming, but somehow, I think I missed the date!!! Well, here's hoping

for

> quick recovery and much improvement of your symptoms!!!

Hang, Kathy, with all the procedures we have to keep up with, I'm surprised

we remember our OWN surgery dates! Mito parents probably do end up forgetting

to take care of themselves from time to time.

Love,

[Guest guest]

-

Thanks for updating us. When will you know the success of the surgery?

Laurie

The surgeon at Emory was encouraging about the surgery at first, but later

> became increasingly hesitant to do it, citing MH and neurological bases for

> double vision and potential inability of the brain to readjust to normal

> sight. Some of you remember my tantrums regarding this matter. Finally,

> however, Dr. Mikell recommended that I call Dr. DeVaro in Savannah, and

> he's the one did the surgery yesterday!

>

> Thanks again, everyone, for all the prayers and good wishes.

>

> Love,

>

>

[Guest guest]

In a message dated 08/01/1999 10:35:06 AM Eastern Daylight Time,

lfitzger@... writes:

> Thanks for updating us. When will you know the success of the surgery?

In terms of appearance, now! (If the CPEO starts progressing, or progressing

more rapidly, we'll have to redo it later.)

In terms of vision, it'll take maybe 3 weeks to see if the brain will fuse

the little bit of double vision that's left. If we decide to fine-tune it

with surgery, we'll do that in 6-8 weeks. But in the meantime, I will be able

to drive much better, but not read yet...thank goodness I can read the

computer screen. And I look fine, which helps the morale immensely.

Love,

[Guest guest]

In a message dated 08/03/1999 12:39:30 AM Eastern Daylight Time,

joelinda@... writes:

>

> Oh, my, , you have really been thru the ringer. Hat off to you!

Thanks, . I sure felt like it at the time. But you know, it hasn't been

nearly as hard as most of us have been through. When I got to the end of it

all, I had good news -- a nuclear disorder that seems to have slowed or even

stopped progressing. I wish to God I could share that diagnosis with all of

us, and the children, and grandchildren.

Much love,

[Guest guest]

Oh, my, , you have really been thru the ringer. Hat off to you!

Re: The long road to diagnosis, and beyond....

>From: Arrants@...

>

>In a message dated 7/28/1999 8:08:04 AM Eastern Daylight Time,

sawyer@...

>writes:

>> I think it would be interesting if everyone

>> posted about their experience getting a biopsy and diagnosis. We'd

>> probably all learn a lot. I'm always interested in hearing about how

>> people get a diagnosis, and how they ended up here.

>

>When I was born, none of my conditions had even been discovered, so the

>doctors concluded that I was " just a slow baby. " My parents were

comfortable

>with that diagnosis and never pursued another one, although I was always

the

>slowest, the last, the tiredest, etc., at everything physical.

>

>I tried at age 25 to get a diagnosis, but the doctor I saw just gave me

some

>exercises (some good, some not too good) and said there was little he could

>do without my birth records, which either the Air Force or my parents had

>misplaced.

>

>I tried again about 10 years later and found a brilliant clinician at the

>University of Georgia, Dr. Carl , who discovered all sorts of

>skeletal-muscular symptoms I wasn't even aware of. He told me I needed a

>specialist and suggested we start with the rarest symptoms (my eye

muscles).

>I suggested we post my symptoms on the Internet first, to see if we could

>find any leads. He diligently wrote down all the symptoms for me and I

keyed

>them in and sent them to a neurology discussion list I'd stumbled across

one

>day.

>

>An MDA researcher at Harvard, a Ph.D. -- I think his name was Rubin --

wrote

>back and said, " It sounds to me like you might have a mitochondrial

>disorder. " He suggested I call Dr. s, an MD in Boston.

>

>Dr. s said, " You're in luck -- a primary mitochondrial research center

is

>right down the road from you " and referred me to a friend of his, Dr.

>Newman, a neurological ophthalmologist at Emory.

>

>Dr. Newman suspected a mitochondrial disease and referred me to Dr.

>Shoffner for diagnosis and to a surgeon to correct the strabismus. Both

were

>at Emory at the time.

>

>And then I moved to the Savannah area and my husband changed jobs and I

>waited for the good insurance to kick in again. In the meantime, Dr.

Shoffner

>moved to ish Rite in Atlanta. Once I resumed the process, Aetna said

>they didn't consider the biopsy medically necessary. After a year of

>haggling, Janice West prevailed -- she discovered another case that Aetna

had

>already paid for, and they were too embarrassed to say no.

>

>Dr. Shoffner did the biopsy and discovered Centronuclear (Myotubular)

>Myopathy or MTM. Some of the lab work indicated an OxPhos disorder, too.

Dr.

>Shoffner recommended that I see a neurologist once a year to monitor

things.

>I started seeing Dr. Mikell and Dr. Herbert in Savannah. In

the

>meantime, I learned that MTM is one of the MDA list of diseases, making me

>one of Jerry's -- er -- Grownups!

>

>The surgeon at Emory was encouraging about the surgery at first, but later

>became increasingly hesitant to do it, citing MH and neurological bases for

>double vision and potential inability of the brain to readjust to normal

>sight. Some of you remember my tantrums regarding this matter. Finally,

>however, Dr. Mikell recommended that I call Dr. DeVaro in Savannah,

and

>he's the one did the surgery yesterday!

>

>Thanks again, everyone, for all the prayers and good wishes.

>

>Love,

>

>

>

>---------------------------