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Hi Everyone,

I posted a message earlier this morning that never appeared. I'm

new to this stuff so perhaps I didn't do it correctly. I'll try

again...

I am interested in people's suggestions about which Boston-area mito

docs to go to and which ones to avoid. Also, I am confused about

the different feedback I've gotten from the 2 doctors I've seen so

far and wonder if any of you have thoughts on my experience.

As an intro, I'll tell you that I've had symptoms since I was a kid

(I'm in my early 40's now) and have been disabled for many years.

At first it seemed like autonomic nervous system problems but as I

grew older many symptoms didn't fit that category or behave like

RSD, which was my original diagnosis. Recently, my primary care

physician heard of mito and sent me for evals. So far I know that I

have low carnitine. I am scheduled for more blood and urine tests,

a muscle biopsy, and an exercise test that measures how much oxygen

is getting to my muscles (I think). All at Mass General.

The first doctor I went to was at Beth Israel (BI). He seemed to be

looking for a precise phenotype but I didn't fit into that. He said

he couldn't diagnose my " cluster " of symptoms. He didn't totally

rule mito out, but he said it was unlikely. Then, I went to Dr. Sims

at MGH. She didn't seem to be looking for an exact phenotype--at

least she didn't mention it. She thought my history of neurological

and muscular pain, fatigue, exercise intolerance, gi problems,

temperature instability, the carnitine deficiency, and a few other

symptoms--along with a first cousin who is in a very similar boat--

could all be explained by mito. She said that even if the test

results were negative, she would still consider me to possibly have

it.

I wonder if there is a difference between doctors who only work with

specific, identifiable phenotypes and doctors who take a broader

view. Could that explain the discrepancy between their positions?

I'd be interested in your perceptions. And again, any

recommendations on which Boston docs are better for adults with

possible mito?

Glad to have found you,

Shayna Pearl

I am wondering

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> I wonder if there is a difference between doctors who only work with

> specific, identifiable phenotypes and doctors who take a broader

> view. Could that explain the discrepancy between their positions?

> I'd be interested in your perceptions. And again, any

> recommendations on which Boston docs are better for adults with

> possible mito?

>

> Glad to have found you,

> Shayna Pearl

I'm sure others will respond, but yes, different doctors view mitochondrial

disease differently and this can be very confusing for patients. I think you

are reading your experience with these two doctors correctly. The field is

relatively new, so there is little consensus among the experts at this

point. Many mito patients do not fit clearly into identifiable phenotypes. A

lot of us are " hybrids. " These disorders are just too complex to be easily

categorized.

Yes, there are others in this group who see Dr. Sims. There are also quite a

few who see Dr. Mark Korson at NEMC. I'm sure they will respond.

Take care,

Barbara

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I have to agree. Only, in our experience, some

physicians have chosen to work with (or identify

affected patients) based on genotype. If they have

the confirmed genetics, they will name and treat the

disease. Others have a braoder definition or better

understanding and will make/treat the diagnosis based

on phenotypical findings or a specific set of

laboratory studies (in the absence of identified

genes).

This has caused our family SIGNIFICANT grief, to the

extent of having 8 total pathology reports/results.

Those with broader perspectives except all of the

positive results, some different variations in regards

to " findings " . A few others have flately refused to

accept/treat based on the available reports and

clinical presentation.

The worst part for us has been not knowing ahead of

tiem what a particular physicians beliefs/philosophy

is until we actually see them....and the troubles

start all over again.

Joanne Kocourek (mom to , lies, and )

visit us at: http://www.caringbridge.org/il/annakris

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My sympathies! I can certainly identify with the wary approach to new

physicians, carefully feeling out where they are on the spectrum. I've been

there, done that. Though I never had a diagnosis based on clinical

presentation..........no one recognized anything at that stage. Once I had

the biochemical enzymatic diagnosis from DiMauro, everyone seemed to accept

it, regardless of whether my symptoms fit a clearly-defined phenotype--which

they didn't. I have never fit any CPT phenotype and never will, but for some

reason that has not caused anyone to question the diagnosis, even before our

CPT mutation was discovered in '98. BUT what I do find is that lots of

doctors tend to ignore my second diagnosis, the global mito defect, and just

refer to the CPT def. I am constantly fighting this battle. In many ways I

understand why it happens.....One rare disorder is hard enough to grasp, but

two is a bit much. They can understand the CPT def and get a handle on it

quicker, and it is genetically confirmed whereas we still don't know which

heat shock protein or transport mechanism is impaired in the global

defect.....so rather than struggle with the morass of questions, they just

focus on what we already know. The problem is that my phenotype is much

closer to MELAS than CPT, so the CPT label is very misleading when it is the

only label applied. I try to patiently educate, bit by bit, and eventually

this seems to broaden their understanding, especially in conjunction with

observing my disease course. But it's slow slow slow.........and sometimes I

still feel very frustrated when they try to stuff me in a stereotypical CPT

box. Your frustration must be double, being the primary advocate for two

daughters. An understanding physician can make all the difference. If they

only knew how much healing takes place simply through feeling understood!

Take care,

Barbara

> RE: Boston Docs and Dx Confusion

>

> I have to agree. Only, in our experience, some

> physicians have chosen to work with (or identify

> affected patients) based on genotype. If they have

> the confirmed genetics, they will name and treat the

> disease. Others have a braoder definition or better

> understanding and will make/treat the diagnosis based

> on phenotypical findings or a specific set of

> laboratory studies (in the absence of identified

> genes).

>

> This has caused our family SIGNIFICANT grief, to the

> extent of having 8 total pathology reports/results.

> Those with broader perspectives except all of the

> positive results, some different variations in regards

> to " findings " . A few others have flately refused to

> accept/treat based on the available reports and

> clinical presentation.

>

> The worst part for us has been not knowing ahead of

> tiem what a particular physicians beliefs/philosophy

> is until we actually see them....and the troubles

> start all over again.

>

> Joanne Kocourek (mom to , lies, and )

> visit us at: http://www.caringbridge.org/il/annakris

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> One rare disorder is hard enough to grasp

Barbara et al, I too can SO relate.

Early on in the process of finding out what I had (just a label would have

been nice) and what was causing it (only few clues so far), I was actually

told by more than one doctor that I simply COULDN'T have MSL (Multiple

Symmetrical Lipomatosis), BECAUSE it was so rare. I DEPLORE this attitude.

Although I admit it might have it's value, such as under time-pressured

triage, perhaps. And I suppose I can imagine how a rural primary doc might

develop this attitude, after seeing thousands of children with sore throats,

over the course of a career. But it's not appropriate for specialists who

have accepted referral of a difficult complicated case with unexplained

oddities (like mine, for instance).

Paraphrase of my conversation with the first doc that removed (mostly) some

huge lipomas from the back of my head, neck, shoulders, and back (that

promptly " grew " back, worse in some areas, in only a couple of months):

Me: Please look at these pictures and medical journals about MSL.

Doc: Yeah, but you don't have MSL.

Me: But how can you rule it out?

Doc: It's SO incredibly rare, it says here there are only 200 cases in the

WORLD, so you can't possibly have it.

Me: You can POSITIVELY rule it out? Doesn't that mean that the docs should

have ruled it out in THESE 200 cases?

Doc: You don't understand, you really can't have it. Those cases were

confirmed by genetic testing.

Me: But aren't my lipomas extremely atypical, in that they are very large

and unencapsulated, symmetrical on my upper torso and head, and " grew " back

so quickly, just like in MSL?

Doc: True, they are very atypical, but that happens sometimes.

Me: (thinking but not saying this) Well, thanks for caring.

My biggest beef is that there is no mechanism (other than wasting my time

with a letter) for these doctors or their supervisors (ha) to ever find out

what huge mistakes they had made, in some cases. And also, that there is no

mechanism for these (and other) doctors to EVER know and truly understand

the vast suffering and trouble they have brought on, with their lazy

dismissals.

I accept that MSL is rare, but given this pervasive rare-hence-impossible

attitude, I am POSITIVE there are MANY more undiscovered cases. Even in the

highly developed world, the PATIENT usually has to be incredibly persistent

(and SURVIVE long enough) to get an accurate diagnosis. Imagine how it is in

the third world (the world that includes most of the people on our planet)?

Or for the really poor, in the United States?

Steve D.

> Date: Thu, 6 Oct 2005 08:57:13 -0500

>

> Subject: RE: Boston Docs and Dx Confusion

>

> My sympathies! I can certainly identify with the wary approach to new

> physicians, carefully feeling out where they are on the spectrum. I've

> been

> there, done that. Though I never had a diagnosis based on clinical

> presentation..........no one recognized anything at that stage. Once I had

> the biochemical enzymatic diagnosis from DiMauro, everyone seemed to

> accept

> it, regardless of whether my symptoms fit a clearly-defined

> phenotype--which

> they didn't. I have never fit any CPT phenotype and never will, but for

> some

> reason that has not caused anyone to question the diagnosis, even before

> our

> CPT mutation was discovered in '98. BUT what I do find is that lots of

> doctors tend to ignore my second diagnosis, the global mito defect, and

> just

> refer to the CPT def. I am constantly fighting this battle. In many ways I

> understand why it happens.....One rare disorder is hard enough to grasp,

> but

> two is a bit much. They can understand the CPT def and get a handle on it

> quicker, and it is genetically confirmed whereas we still don't know which

> heat shock protein or transport mechanism is impaired in the global

> defect.....so rather than struggle with the morass of questions, they just

> focus on what we already know. The problem is that my phenotype is much

> closer to MELAS than CPT, so the CPT label is very misleading when it is

> the

> only label applied. I try to patiently educate, bit by bit, and eventually

> this seems to broaden their understanding, especially in conjunction with

> observing my disease course. But it's slow slow slow.........and sometimes

> I

> still feel very frustrated when they try to stuff me in a stereotypical

> CPT

> box. Your frustration must be double, being the primary advocate for two

> daughters. An understanding physician can make all the difference. If they

> only knew how much healing takes place simply through feeling understood!

>

> Take care,

> Barbara

>

>

>

>> RE: Boston Docs and Dx Confusion

>>

>> I have to agree. Only, in our experience, some

>> physicians have chosen to work with (or identify

>> affected patients) based on genotype. If they have

>> the confirmed genetics, they will name and treat the

>> disease. Others have a braoder definition or better

>> understanding and will make/treat the diagnosis based

>> on phenotypical findings or a specific set of

>> laboratory studies (in the absence of identified

>> genes).

>>

>> This has caused our family SIGNIFICANT grief, to the

>> extent of having 8 total pathology reports/results.

>> Those with broader perspectives except all of the

>> positive results, some different variations in regards

>> to " findings " . A few others have flately refused to

>> accept/treat based on the available reports and

>> clinical presentation.

>>

>> The worst part for us has been not knowing ahead of

>> tiem what a particular physicians beliefs/philosophy

>> is until we actually see them....and the troubles

>> start all over again.

>>

>> Joanne Kocourek (mom to , lies, and )

>> visit us at: http://www.caringbridge.org/il/annakris

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Shayna

People here have had differing takes on Dr. Sims, Neurology Associates at

MGH, insofar as being rather cold (not empathetic about being tired etc.)

but also very knowledgeable. I suppose this would be a typical geek profile.

What did you think of her, manner-wise?

I've had recent experience with Dr. Gilmore O'Neill of the same group at

MGH. He is astonishingly caring IMHO, immediately expressing strong empathy

for my struggles getting to a diagnosis (guess he's heard it before, and

really taken it in). He looked over my lab report showing I had the most

common (A8344G) of the several known mutations causing MERRF, and said that

I was lucky to have such a common disorder. I was taken aback until he

looked me in the eye and said oops sorry, I was joking. He specializes in

ALD but is quite well informed about other more general various mito stuff.

One glitch, don't know yet if this is unusual, is that he wanted me to call

him in a week and gave me his pager number, but hasn't returned that call.

But I do know that he has followed through with several promises, regarding

details of a sleep study and several issues with the MDA. He is very geeky

too, but his version of that went well with me.

Dr. Didier Cros of that same group is a reknowned and brilliant doctor who

(along with his staff) doesn't return calls, requires vast repeated

prompting to remember to do anything (even something simple like mailing me

a release), is VERY frequently away in Europe or elsewhere, accidentally

orders the wrong lab test (heaven help you if this is a muscle biopsy),

doesn't show up for appointments, etc. This guy drives me completely nuts,

except that he knows a LOT and also seems to know VERY WELL a large number

of other reknowned brilliant doctors (some of whom DON'T drive me nuts) in

other disciplines. I'm guessing you will never get to see this guy unless a

chief of neurology from a large teaching hospital refers you to him. I'm not

sure you would WANT to see him. On the other hand, he did write an awesome

letter (five months after promising to get right on it) that swayed an

Administrative Law Judge to rule in my behalf in my final SSDI appeal. I

always have the feeling that he's looking at me like, how am I going to

write an article about this guy? As usual for big-shots, he has some docs in

training that have amazingly bad attitudes towards us mere patients.

Regarding lumpers and splitters, my personal view is that the INDUSTRY of

doctoring has gotten rather away from the deeply caring ethics of the most

thoughtful doctors of long ago. It's called " practicing " and it will

probably never be like " engineering " .

Are you taking carnitine OTC? If I were you, I would consider just going

ahead with it. I'm not a doctor, etc., that's just my opinion.

Steve D.

> Date: Wed, 05 Oct 2005 11:20:47 -0000

>

> Subject: Boston Docs and Dx Confusion

>

> Hi Everyone,

> I just joined the group. I've had symptoms since I was a kid (I'm

> in my 40's now), which fluctuate, but I have been disabled for most

> of my life. As my symptoms have changed in unexpected ways, and my

> primary care physician recently heard about mito diseases, he sent

> me for evals. So far, I know that I have low carnitine. Dr. Sims

> at MGH thinks my symptoms and history are in sync with a mito

> problem so she's setting me up with a biopsy, an exercise test, and

> more blood and urine tests. Her eval was different from what the

> previous doctor at Beth Israel(BI) said. He thought I probably

> didn't have mito whereas Sims said even if all the tests come up

> negative she will still consider me as possibly having it.

>

> So I have 2 questions for you: What doctors in Boston do you

> recommend I go to or suggest I avoid? Also, in the next paragraph I

> will explain my suspicion about why the doctors disagree. Do you

> think the way I see it is on the right track or do you think I am

> misunderstanding the situation?

>

> Specifically, my sense is that the BI doc was looking only for

> specific phenotypes and if I didn't fit in fairly well he thought it

> was unlikely that I had mito. He said everything else, including

> the similar symptoms that my first cousin has, were just " clusters

> of symptoms " that could be a variety of things. In contrast, Dr.

> Sims didn't seem to need me to fit an exact phenotype--at least she

> never mentioned it. She looked at my history of autonomic

> dysfunction, muscular and neurological pain, fatigue, exercise

> intolerance, gi problems, difficulty with temperature swings, night

> hunger, the low carnitine, etc., and said it was all consistent with

> mito. So is the difference that the first doc focuses on phenotypes

> only and the second is taking a more general look and is willing to

> include a wider range of people for diagnosis? If so, any opinions

> out there about this? I read an article by Dr. Cohen

> about " lumpers " and " splitters " and wondered if these doctors were

> falling into these camps.

>

> Many thanks,

> Shayna Pearl

>

> p.s. Since I'm new to Yahoo Groups, please let me know if I'm off

> with the etiquette or process.

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Steve,

Thanks so much for your response and the info on MGH docs. Also my

thanks to others who have responded to me and/or shared views on

issues relevant to what I was asking about. I'm glad I've found

this group.

Believe it or not, Dr. Sims was quite personable in my appointment

with her. Perhaps my sense of this is influenced by my long history

of disability; I've gotten so used to doctors with lack-of-

sensitivity syndrome that my expectations in that area are lower

than they used to be. As a teenager and young adult, I endured the

legion of neurologists who told me I had a psychosomatic condition.

Now, I just want a doctor who takes my symptoms seriously, knows

what they're talking about, can effectively diagnose and treat me,

and is not overtly offensive. So far, though I have heard other

complaints about her personality, I haven't heard complaints about

her expertise. I guess I'll stick with her for now. If you or

anyone out there has a different perspective on her expertise,

please let me know.

I've been taking prescription carnitor, which actually turned around

a flare-up I was having. Also, while it didn't eliminate my

exercise intolerance by any means, it definitely reduced it. It was

the first time in more than a decade that exercise became somewhat

easier--which was a joy for me. At the moment, I'm off the

carnitine because the tests I will be taking would be influenced by

it. I look forward to some time in November when the biopsy will be

over and I can go back on it.

I suppose one of the more confusing things for me is Dr. Sims's

statement that even if all of my tests are negative, she will still

consider me as a possible mito patient and I think, she will follow

my case and treat me accordingly (more " co-factors " , I guess, if

I've used that word correctly).

On the one hand, I understand why she wouldn't rule mito out

whatever the test results are. After a lifetime of mysterious

disabling health problems, Dr. Sims was the first doctor I met who

could give me a scientific, physiological explanation for *all* of

my symptoms and their fluctuations. It was unbelievable. And the

possibility of having an answer to the oft-asked question, " What's

your illness? " is nice. On the other hand, although I am used to

living with mystery and uncertainty, mito is not a happy diagnosis;

there are implications and possiblities with mito that I had not

previously recognized as applying to me. I don't want to take on

this diagnosis if it's not right. Also, there are implications for

my family, some of whom might be symptomatic now. I don't want them

to live in the dark if mito might pertain to them, but I don't want

to worry them unnecessarily.

At the moment, I guess I'm hoping that I get a definite diagnosis

despite the implications of mito. Even though it won't tell me

anything about how the illness will or won't progress, it gives me

more data about treatment and lifestyle issues (e.g. energy

management, etc.) and would be helpful in understanding the many

things that happen with my body--some of which I previously thought

were unrelated to each other and which now seem all connected. I

suppose that based on Dr. Sims's explanations and what I've read, I

am tending to believe that I do have it.

Anyone out there have perspectives to share on not being sure

whether you have it or not?

Thanks againn Steve for your info and response.

Best,

Shayna

>

> Shayna

>

> People here have had differing takes on Dr. Sims, Neurology

Associates at

> MGH, insofar as being rather cold (not empathetic about being

tired etc.)

> but also very knowledgeable. I suppose this would be a typical

geek profile.

> What did you think of her, manner-wise?

>

> I've had recent experience with Dr. Gilmore O'Neill of the same

group at

> MGH. He is astonishingly caring IMHO, immediately expressing

strong empathy

> for my struggles getting to a diagnosis (guess he's heard it

before, and

> really taken it in). He looked over my lab report showing I had

the most

> common (A8344G) of the several known mutations causing MERRF, and

said that

> I was lucky to have such a common disorder. I was taken aback

until he

> looked me in the eye and said oops sorry, I was joking. He

specializes in

> ALD but is quite well informed about other more general various

mito stuff.

> One glitch, don't know yet if this is unusual, is that he wanted

me to call

> him in a week and gave me his pager number, but hasn't returned

that call.

> But I do know that he has followed through with several promises,

regarding

> details of a sleep study and several issues with the MDA. He is

very geeky

> too, but his version of that went well with me.

>

> Dr. Didier Cros of that same group is a reknowned and brilliant

doctor who

> (along with his staff) doesn't return calls, requires vast

repeated

> prompting to remember to do anything (even something simple like

mailing me

> a release), is VERY frequently away in Europe or elsewhere,

accidentally

> orders the wrong lab test (heaven help you if this is a muscle

biopsy),

> doesn't show up for appointments, etc. This guy drives me

completely nuts,

> except that he knows a LOT and also seems to know VERY WELL a

large number

> of other reknowned brilliant doctors (some of whom DON'T drive me

nuts) in

> other disciplines. I'm guessing you will never get to see this guy

unless a

> chief of neurology from a large teaching hospital refers you to

him. I'm not

> sure you would WANT to see him. On the other hand, he did write an

awesome

> letter (five months after promising to get right on it) that

swayed an

> Administrative Law Judge to rule in my behalf in my final SSDI

appeal. I

> always have the feeling that he's looking at me like, how am I

going to

> write an article about this guy? As usual for big-shots, he has

some docs in

> training that have amazingly bad attitudes towards us mere

patients.

>

> Regarding lumpers and splitters, my personal view is that the

INDUSTRY of

> doctoring has gotten rather away from the deeply caring ethics of

the most

> thoughtful doctors of long ago. It's called " practicing " and it

will

> probably never be like " engineering " .

>

> Are you taking carnitine OTC? If I were you, I would consider just

going

> ahead with it. I'm not a doctor, etc., that's just my opinion.

>

> Steve D.

>

> > Date: Wed, 05 Oct 2005 11:20:47 -0000

> > From: " shaynapearl "

> > Subject: Boston Docs and Dx Confusion

> >

> > Hi Everyone,

> > I just joined the group. I've had symptoms since I was a kid

(I'm

> > in my 40's now), which fluctuate, but I have been disabled for

most

> > of my life. As my symptoms have changed in unexpected ways, and

my

> > primary care physician recently heard about mito diseases, he

sent

> > me for evals. So far, I know that I have low carnitine. Dr.

Sims

> > at MGH thinks my symptoms and history are in sync with a mito

> > problem so she's setting me up with a biopsy, an exercise test,

and

> > more blood and urine tests. Her eval was different from what the

> > previous doctor at Beth Israel(BI) said. He thought I probably

> > didn't have mito whereas Sims said even if all the tests come up

> > negative she will still consider me as possibly having it.

> >

> > So I have 2 questions for you: What doctors in Boston do you

> > recommend I go to or suggest I avoid? Also, in the next

paragraph I

> > will explain my suspicion about why the doctors disagree. Do you

> > think the way I see it is on the right track or do you think I am

> > misunderstanding the situation?

> >

> > Specifically, my sense is that the BI doc was looking only for

> > specific phenotypes and if I didn't fit in fairly well he

thought it

> > was unlikely that I had mito. He said everything else, including

> > the similar symptoms that my first cousin has, were

just " clusters

> > of symptoms " that could be a variety of things. In contrast, Dr.

> > Sims didn't seem to need me to fit an exact phenotype--at least

she

> > never mentioned it. She looked at my history of autonomic

> > dysfunction, muscular and neurological pain, fatigue, exercise

> > intolerance, gi problems, difficulty with temperature swings,

night

> > hunger, the low carnitine, etc., and said it was all consistent

with

> > mito. So is the difference that the first doc focuses on

phenotypes

> > only and the second is taking a more general look and is willing

to

> > include a wider range of people for diagnosis? If so, any

opinions

> > out there about this? I read an article by Dr. Cohen

> > about " lumpers " and " splitters " and wondered if these doctors

were

> > falling into these camps.

> >

> > Many thanks,

> > Shayna Pearl

> >

> > p.s. Since I'm new to Yahoo Groups, please let me know if I'm off

> > with the etiquette or process.

>

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Shayna

I am with you when it comes to needing a correct diagnosis. It took 15

years, but it seemed to give me back some control. It gave me

psychological peace that something was wrong as I had thought and that

I was not " nuts " as they had been telling me when stumped concerning

my case.

On the subject of doctors, I have made the following observation, when

I took the time to look. Each doc has their own needs as to how an

appointment progresses. An example is my nephrologist who needs to

tell you what he wants to tell you without interuption and then will

answer questions. When interupted, he gets tense and sharp with the

patient. I think it is his need to make sure he has covered the

information and this is how he can do it. Others want all questions

asked and then answered. Others can jump all over, especially if they

have a good memory for the specifics of my case. We all learn and

prefer different styles of intereaction and I think we sometimes

forget that they are no different. Of course, there are still the

" bad " ones in the area of personality and those having a bad day.

I am glad you had a positive experience and that are ready for the

next step in the path leading to a diagnosis. The above about doctor

approaches is meant for the subject in general, not you.

laurie

> Steve,

>

> Thanks so much for your response and the info on MGH docs. Also my

> thanks to others who have responded to me and/or shared views on

> issues relevant to what I was asking about. > Anyone out there have

perspectives to share on not being sure

> whether you have it or not?

>

>

> Best,

> Shayna

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Shayna Pearl,

I have seen both Dr. Korson and Dr. Sims in Boston. I read

someone else's post that they feel that these doctors approach the mito

differently, which they do, because of their specialty. That is why I

see both of them. Dr. Korson recommended that I see Dr. Sims as well

since I have a lot of neurological issues. Many people have various

opinions about Dr. Sims. I liked her and liked her approach. She spent

about 2 hours with me and explained a lot of things that my local doctors

have no idea about. I did notice that she really went into family

history and symptoms, which I did like. Everyone is going to have a

different experience with any doctor they see. You need to follow your

mind as to who you feel " fits " better for you.

I do want to welcome you to the group. This is a great group of

people with a lot of knowledge and caring.

Smiles,

a

On Wed, 05 Oct 2005 15:27:47 -0000 " shaynapearl " happyclam8@...>

writes:

Hi Everyone,

I posted a message earlier this morning that never appeared. I'm

new to this stuff so perhaps I didn't do it correctly. I'll try

again...

I am interested in people's suggestions about which Boston-area mito

docs to go to and which ones to avoid. Also, I am confused about

the different feedback I've gotten from the 2 doctors I've seen so

far and wonder if any of you have thoughts on my experience.

As an intro, I'll tell you that I've had symptoms since I was a kid

(I'm in my early 40's now) and have been disabled for many years.

At first it seemed like autonomic nervous system problems but as I

grew older many symptoms didn't fit that category or behave like

RSD, which was my original diagnosis. Recently, my primary care

physician heard of mito and sent me for evals. So far I know that I

have low carnitine. I am scheduled for more blood and urine tests,

a muscle biopsy, and an exercise test that measures how much oxygen

is getting to my muscles (I think). All at Mass General.

The first doctor I went to was at Beth Israel (BI). He seemed to be

looking for a precise phenotype but I didn't fit into that. He said

he couldn't diagnose my " cluster " of symptoms. He didn't totally

rule mito out, but he said it was unlikely. Then, I went to Dr. Sims

at MGH. She didn't seem to be looking for an exact phenotype--at

least she didn't mention it. She thought my history of neurological

and muscular pain, fatigue, exercise intolerance, gi problems,

temperature instability, the carnitine deficiency, and a few other

symptoms--along with a first cousin who is in a very similar boat--

could all be explained by mito. She said that even if the test

results were negative, she would still consider me to possibly have

it.

I wonder if there is a difference between doctors who only work with

specific, identifiable phenotypes and doctors who take a broader

view. Could that explain the discrepancy between their positions?

I'd be interested in your perceptions. And again, any

recommendations on which Boston docs are better for adults with

possible mito?

Glad to have found you,

Shayna Pearl

I am wondering

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a,

Thanks for your thoughts on the subject. As I've been reading

through people's posts this week (my first week in the group)one

thing I am struck by is the variety of symptoms. And of course,

everyone's personality is different everywhere, so even people with

the same symptoms will have different feelings about what doc they

feel comfortable with. So, all in all, your advice to go with what

feels like a better fit sounds good.

THanks for your warm welcome.

Best,

Shayna

>

> Shayna Pearl,

> I have seen both Dr. Korson and Dr. Sims in Boston. I read

> someone else's post that they feel that these doctors approach the

mito

> differently, which they do, because of their specialty. That is

why I

> see both of them. Dr. Korson recommended that I see Dr. Sims as

well

> since I have a lot of neurological issues. Many people have

various

> opinions about Dr. Sims. I liked her and liked her approach. She

spent

> about 2 hours with me and explained a lot of things that my local

doctors

> have no idea about. I did notice that she really went into family

> history and symptoms, which I did like. Everyone is going to have

a

> different experience with any doctor they see. You need to follow

your

> mind as to who you feel " fits " better for you.

> I do want to welcome you to the group. This is a great

group of

> people with a lot of knowledge and caring.

>

> Smiles,

> a

>

> On Wed, 05 Oct 2005 15:27:47 -0000 " shaynapearl "

> writes:

> Hi Everyone,

> I posted a message earlier this morning that never appeared. I'm

> new to this stuff so perhaps I didn't do it correctly. I'll try

> again...

>

> I am interested in people's suggestions about which Boston-area

mito

> docs to go to and which ones to avoid. Also, I am confused about

> the different feedback I've gotten from the 2 doctors I've seen so

> far and wonder if any of you have thoughts on my experience.

>

> As an intro, I'll tell you that I've had symptoms since I was a

kid

> (I'm in my early 40's now) and have been disabled for many years.

> At first it seemed like autonomic nervous system problems but as I

> grew older many symptoms didn't fit that category or behave like

> RSD, which was my original diagnosis. Recently, my primary care

> physician heard of mito and sent me for evals. So far I know that

I

> have low carnitine. I am scheduled for more blood and urine

tests,

> a muscle biopsy, and an exercise test that measures how much

oxygen

> is getting to my muscles (I think). All at Mass General.

>

> The first doctor I went to was at Beth Israel (BI). He seemed to

be

> looking for a precise phenotype but I didn't fit into that. He

said

> he couldn't diagnose my " cluster " of symptoms. He didn't totally

> rule mito out, but he said it was unlikely. Then, I went to Dr.

Sims

> at MGH. She didn't seem to be looking for an exact phenotype--at

> least she didn't mention it. She thought my history of

neurological

> and muscular pain, fatigue, exercise intolerance, gi problems,

> temperature instability, the carnitine deficiency, and a few other

> symptoms--along with a first cousin who is in a very similar boat--

> could all be explained by mito. She said that even if the test

> results were negative, she would still consider me to possibly

have

> it.

>

> I wonder if there is a difference between doctors who only work

with

> specific, identifiable phenotypes and doctors who take a broader

> view. Could that explain the discrepancy between their positions?

> I'd be interested in your perceptions. And again, any

> recommendations on which Boston docs are better for adults with

> possible mito?

>

> Glad to have found you,

> Shayna Pearl

>

> I am wondering

>

>

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