Boston Docs and Dx Confusion

October 5, 2005

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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