Seeking Outside Consultation

[Guest guest]

Hello Folks,

I'm a 51 y/o female who has been undergoing neurological evaluation

for several months after a year of symptoms.

To date, MRI (both brain and neck) are negative (Neuro was certain I

had MS prior to these tests). All blood tests (for muscle disease)

are negative. EMG I had this week was also negative. Sleep deprived

EEG positve for Frontal Lobe Epilepsy.

The doctor that did the EMG said he was not going to recommend a

muscle biopsy and was going to consult with my neuro.

Next day I get a call from the office asking me to pick up a lab

slip for a blood test called Anti-GAD. I looked it up and

apparently my neuro is now looking at Stiff Person Syndrome?

I sense I will have to seek an outside consultation with someone who

specializes in Mito, so I am asking if anyone on the list might be

able to direct me accordingly.

I live in Southern California, Bellflower to be exact, and about 30-

40 minutes outside of Los Angeles.

Thanks so much.

(Symtpoms for last year that wax and wane: Stiffness, Ataxia,

Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

Fasciculations)

~Kathy~

(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

learning disabilities)

[Guest guest]

Kathy

I can't help with a doctor as I live on the opposite side of the country,

but I was wondering if you had printed off articles from the UMDF web site

and given them to your doctors?

laurie

>

> Reply-To:

> Date: Fri, 27 Aug 2004 15:26:21 -0000

> To:

> Subject: Seeking Outside Consultation

>

> Hello Folks,

>

> I'm a 51 y/o female who has been undergoing neurological evaluation

> for several months after a year of symptoms.

>

> To date, MRI (both brain and neck) are negative (Neuro was certain I

> had MS prior to these tests). All blood tests (for muscle disease)

> are negative. EMG I had this week was also negative. Sleep deprived

> EEG positve for Frontal Lobe Epilepsy.

>

> The doctor that did the EMG said he was not going to recommend a

> muscle biopsy and was going to consult with my neuro.

>

> Next day I get a call from the office asking me to pick up a lab

> slip for a blood test called Anti-GAD. I looked it up and

> apparently my neuro is now looking at Stiff Person Syndrome?

>

> I sense I will have to seek an outside consultation with someone who

> specializes in Mito, so I am asking if anyone on the list might be

> able to direct me accordingly.

>

> I live in Southern California, Bellflower to be exact, and about 30-

> 40 minutes outside of Los Angeles.

>

> Thanks so much.

>

> (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

> Fasciculations)

>

> ~Kathy~

> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

> learning disabilities)

>

>

>

>

>

>

> 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]

In a message dated 8/28/2004 12:02:49 AM Eastern Standard Time,

JstKathy5@... writes:

I still think I'm going to need someone who specializes in Mito

disease to evaluate me. The MDA site doesn't have a referral list,

so I'm at a loss.

HI Kathy,

I'm not sure if he routinely sees adults or not, but Dr Boles is at

Children's Hospital of LA. I saw him when I was 24 for a consult, but I may

have just squeezed in before I got too old. It's worth a call though. He's a

mitochondrial specialist and I think is starting his own mito center. Maybe

someone else knows for sure if he sees adults. Below is his contact info:

Dr Boles

Division of Medical Genetics

Box 90

Children's Hospital of Los Angeles

PO Box 54700

Los Angeles, CA 90054-0700

Main program telephone:

Also Dr Enns at Stanford is good too. Let me know if you want his

contact info. I know for sure that he sees adults.

Hope you find someone who can help you! Keep looking!

Malisa

[Guest guest]

Laurie,

No, I didn't. My neuro, although clearly seeking the root of my

symptoms, is clearly an 'in the box' type of gal. If it doesn't fit

perfectly, she moves on, that's it, done deal.

When I had the EMG I did not have symptoms. The cramping,

stiffness, etc, was in it' quite phase, so maybe I'll wait until it

flares up again (gee, maybe it won't! hope hope!!) and ask for

repeated testing. I have also have this vibrating thing going on at

times, that may or may not show up, but it's worth a shot.

I still think I'm going to need someone who specializes in Mito

disease to evaluate me. The MDA site doesn't have a referral list,

so I'm at a loss.

Thanks for your reply Laurie!

~Kathy~

> Kathy

>

> I can't help with a doctor as I live on the opposite side of the

country,

> but I was wondering if you had printed off articles from the UMDF

web site

> and given them to your doctors?

>

> laurie

>

> > From: " jstkathy52004 "

> > Reply-To:

> > Date: Fri, 27 Aug 2004 15:26:21 -0000

> > To:

> > Subject: Seeking Outside Consultation

> >

> > Hello Folks,

> >

> > I'm a 51 y/o female who has been undergoing neurological

evaluation

> > for several months after a year of symptoms.

> >

> > To date, MRI (both brain and neck) are negative (Neuro was

certain I

> > had MS prior to these tests). All blood tests (for muscle

disease)

> > are negative. EMG I had this week was also negative. Sleep

deprived

> > EEG positve for Frontal Lobe Epilepsy.

> >

> > The doctor that did the EMG said he was not going to recommend a

> > muscle biopsy and was going to consult with my neuro.

> >

> > Next day I get a call from the office asking me to pick up a lab

> > slip for a blood test called Anti-GAD. I looked it up and

> > apparently my neuro is now looking at Stiff Person Syndrome?

> >

> > I sense I will have to seek an outside consultation with someone

who

> > specializes in Mito, so I am asking if anyone on the list might

be

> > able to direct me accordingly.

> >

> > I live in Southern California, Bellflower to be exact, and about

30-

> > 40 minutes outside of Los Angeles.

> >

> > Thanks so much.

> >

> > (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

> > Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

> > Fasciculations)

> >

> > ~Kathy~

> > (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

> > Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

> > learning disabilities)

> >

> >

> >

> >

> >

> >

> > 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]

Kathy,

I don't live in CA, but I've been there for testing. There's the

metabolic clinic at UCSD. I also believe Dr. Boles is in Los

Angeles and if you don't mind traveling a little further - Dr. Enns

is at Stanford.

Good luck. (You will need the patience of a saint if you are trying

to schedule an appointment with the UCSD!) I don't know anything

about the others, but maybe someone else has some input there.

Maggie

> Hello Folks,

>

> I'm a 51 y/o female who has been undergoing neurological

evaluation

> for several months after a year of symptoms.

>

> To date, MRI (both brain and neck) are negative (Neuro was certain

I

> had MS prior to these tests). All blood tests (for muscle disease)

> are negative. EMG I had this week was also negative. Sleep

deprived

> EEG positve for Frontal Lobe Epilepsy.

>

> The doctor that did the EMG said he was not going to recommend a

> muscle biopsy and was going to consult with my neuro.

>

> Next day I get a call from the office asking me to pick up a lab

> slip for a blood test called Anti-GAD. I looked it up and

> apparently my neuro is now looking at Stiff Person Syndrome?

>

> I sense I will have to seek an outside consultation with someone

who

> specializes in Mito, so I am asking if anyone on the list might be

> able to direct me accordingly.

>

> I live in Southern California, Bellflower to be exact, and about

30-

> 40 minutes outside of Los Angeles.

>

> Thanks so much.

>

> (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

> Fasciculations)

>

> ~Kathy~

> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

> learning disabilities)

[Guest guest]

Hi Kathy,

Sorry to hear of your troubles. It is very frustrating when a doctor doesn't

listen to us. But I know that some of us know alot more than the doctors when it

comes to our own health.

I am wondering why the doctor who did your EMG said he wasn't going to recommend

a muscle biopsy. A negative EMG doesn't rule out a Mito disease.

If I were you, I would still go and get the bloodtest done. The Anti GAD tests

for diabetes, Epilepsy, and other diseases.

Did you happen to read up on Stiff Person Syndrome on the web? Did any of the

symptoms match any of your symptoms? If so it might be in your best interest to

have the blood test done.

I can't help you out with a doctor b/c I am on the other side of the country.

But I have noticed that Malisa gave you a good start on who to call for an appt.

These doctors are very well known Mito doctors.

Good luck in your search, I hope you get some answers soon. It took me 10 yrs.

until I got my diagnosis. Looking for answers is very exhausting.

Hugs,

Ann-Marie

Seeking Outside Consultation

Hello Folks,

I'm a 51 y/o female who has been undergoing neurological evaluation

for several months after a year of symptoms.

To date, MRI (both brain and neck) are negative (Neuro was certain I

had MS prior to these tests). All blood tests (for muscle disease)

are negative. EMG I had this week was also negative. Sleep deprived

EEG positve for Frontal Lobe Epilepsy.

The doctor that did the EMG said he was not going to recommend a

muscle biopsy and was going to consult with my neuro.

Next day I get a call from the office asking me to pick up a lab

slip for a blood test called Anti-GAD. I looked it up and

apparently my neuro is now looking at Stiff Person Syndrome?

I sense I will have to seek an outside consultation with someone who

specializes in Mito, so I am asking if anyone on the list might be

able to direct me accordingly.

I live in Southern California, Bellflower to be exact, and about 30-

40 minutes outside of Los Angeles.

Thanks so much.

(Symtpoms for last year that wax and wane: Stiffness, Ataxia,

Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

Fasciculations)

~Kathy~

(DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

learning disabilities)

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]

Kathy,

It really wouldn't hurt to go to the UMDF website and print off some of the

articles on Mito disease and take them to your Neuro to read. If she reads them,

they just might change her mind and she might start thinking " outside the Box "

for answers to your symptoms. It's worth a try!!

What blood tests have you had that came back negative? Did you have lactic acid,

pyruvate, CK done? You stated that the blood work you had done came back

negative, I am wondering if you had all the important blood tests done, or maybe

your Neuro missed some.

Good luck

Hugs,

Ann-Marie

Seeking Outside Consultation

> >

> > Hello Folks,

> >

> > I'm a 51 y/o female who has been undergoing neurological

evaluation

> > for several months after a year of symptoms.

> >

> > To date, MRI (both brain and neck) are negative (Neuro was

certain I

> > had MS prior to these tests). All blood tests (for muscle

disease)

> > are negative. EMG I had this week was also negative. Sleep

deprived

> > EEG positve for Frontal Lobe Epilepsy.

> >

> > The doctor that did the EMG said he was not going to recommend a

> > muscle biopsy and was going to consult with my neuro.

> >

> > Next day I get a call from the office asking me to pick up a lab

> > slip for a blood test called Anti-GAD. I looked it up and

> > apparently my neuro is now looking at Stiff Person Syndrome?

> >

> > I sense I will have to seek an outside consultation with someone

who

> > specializes in Mito, so I am asking if anyone on the list might

be

> > able to direct me accordingly.

> >

> > I live in Southern California, Bellflower to be exact, and about

30-

> > 40 minutes outside of Los Angeles.

> >

> > Thanks so much.

> >

> > (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

> > Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

> > Fasciculations)

> >

> > ~Kathy~

> > (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

> > Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

> > learning disabilities)

> >

> >

> >

> >

> >

> >

> > 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]

Kathy

Good idea Ann-Marie.

Even my lactic acid and pyruvate were in the normal range, but the ratio was

not. If you have had these checked, the doctor may not know to check the

ratio.

laurie

>

> Reply-To:

> Date: Sat, 28 Aug 2004 01:52:40 -0400

> To: >

> Subject: Re: Seeking Outside Consultation

>

> Kathy,

>

> It really wouldn't hurt to go to the UMDF website and print off some of the

> articles on Mito disease and take them to your Neuro to read. If she reads

> them, they just might change her mind and she might start thinking " outside

> the Box " for answers to your symptoms. It's worth a try!!

>

> What blood tests have you had that came back negative? Did you have lactic

> acid, pyruvate, CK done? You stated that the blood work you had done came back

> negative, I am wondering if you had all the important blood tests done, or

> maybe your Neuro missed some.

>

> Good luck

> Hugs,

> Ann-Marie

> Seeking Outside Consultation

>>>

>>> Hello Folks,

>>>

>>> I'm a 51 y/o female who has been undergoing neurological

> evaluation

>>> for several months after a year of symptoms.

>>>

>>> To date, MRI (both brain and neck) are negative (Neuro was

> certain I

>>> had MS prior to these tests). All blood tests (for muscle

> disease)

>>> are negative. EMG I had this week was also negative. Sleep

> deprived

>>> EEG positve for Frontal Lobe Epilepsy.

>>>

>>> The doctor that did the EMG said he was not going to recommend a

>>> muscle biopsy and was going to consult with my neuro.

>>>

>>> Next day I get a call from the office asking me to pick up a lab

>>> slip for a blood test called Anti-GAD. I looked it up and

>>> apparently my neuro is now looking at Stiff Person Syndrome?

>>>

>>> I sense I will have to seek an outside consultation with someone

> who

>>> specializes in Mito, so I am asking if anyone on the list might

> be

>>> able to direct me accordingly.

>>>

>>> I live in Southern California, Bellflower to be exact, and about

> 30-

>>> 40 minutes outside of Los Angeles.

>>>

>>> Thanks so much.

>>>

>>> (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

>>> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

>>> Fasciculations)

>>>

>>> ~Kathy~

>>> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

>>> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

>>> learning disabilities)

>>>

>>>

>>>

>>>

>>>

>>>

>>> 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]

Kathy

It was an EMG that indicated a metabolic muscle disease. The test before

exercise was normal. had this test at the same time (we are sisters)

and we walked up and down stairs until we couldn't do it anymore and the EMG

was repeated. It was after the exercise that it was positive.

laurie

>

> Reply-To:

> Date: Sat, 28 Aug 2004 03:30:54 -0000

> To:

> Subject: Re: Seeking Outside Consultation

>

>

> Laurie,

>

> No, I didn't. My neuro, although clearly seeking the root of my

> symptoms, is clearly an 'in the box' type of gal. If it doesn't fit

> perfectly, she moves on, that's it, done deal.

>

> When I had the EMG I did not have symptoms. The cramping,

> stiffness, etc, was in it' quite phase, so maybe I'll wait until it

> flares up again (gee, maybe it won't! hope hope!!) and ask for

> repeated testing. I have also have this vibrating thing going on at

> times, that may or may not show up, but it's worth a shot.

>

> I still think I'm going to need someone who specializes in Mito

> disease to evaluate me. The MDA site doesn't have a referral list,

> so I'm at a loss.

>

> Thanks for your reply Laurie!

>

> ~Kathy~

>

>

>

>> Kathy

>>

>> I can't help with a doctor as I live on the opposite side of the

> country,

>> but I was wondering if you had printed off articles from the UMDF

> web site

>> and given them to your doctors?

>>

>> laurie

>>

>>> From: " jstkathy52004 "

>>> Reply-To:

>>> Date: Fri, 27 Aug 2004 15:26:21 -0000

>>> To:

>>> Subject: Seeking Outside Consultation

>>>

>>> Hello Folks,

>>>

>>> I'm a 51 y/o female who has been undergoing neurological

> evaluation

>>> for several months after a year of symptoms.

>>>

>>> To date, MRI (both brain and neck) are negative (Neuro was

> certain I

>>> had MS prior to these tests). All blood tests (for muscle

> disease)

>>> are negative. EMG I had this week was also negative. Sleep

> deprived

>>> EEG positve for Frontal Lobe Epilepsy.

>>>

>>> The doctor that did the EMG said he was not going to recommend a

>>> muscle biopsy and was going to consult with my neuro.

>>>

>>> Next day I get a call from the office asking me to pick up a lab

>>> slip for a blood test called Anti-GAD. I looked it up and

>>> apparently my neuro is now looking at Stiff Person Syndrome?

>>>

>>> I sense I will have to seek an outside consultation with someone

> who

>>> specializes in Mito, so I am asking if anyone on the list might

> be

>>> able to direct me accordingly.

>>>

>>> I live in Southern California, Bellflower to be exact, and about

> 30-

>>> 40 minutes outside of Los Angeles.

>>>

>>> Thanks so much.

>>>

>>> (Symtpoms for last year that wax and wane: Stiffness, Ataxia,

>>> Myoclonus, Clonus, Muscle Pain, Weakness, Numbness/Tingling,

>>> Fasciculations)

>>>

>>> ~Kathy~

>>> (DX to date: Type II Diabetes, Frontal Lobe Epilepsy, Interstital

>>> Cystitis, Adult son with Autism, Adult son with ADDHD/multiple

>>> learning disabilities)

>>>

>>>

>>>

>>>

>>>

>>>

>>> 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.

>>>

>>>

>>>

>>>