my recent tests, and MDA website handling of mito

[Guest guest]

Hi all

I was looking around on the MDA website, and got annoyed at a few points re

their disease descriptions for mito. Just FYI I sent the below, to

mda@... but I don't have much hope of any change.

Another " nit " is at http://www.mdausa.org/disease/mito.cfm where it defines

mito (for their purposes) as one of a short list of named symptom-clusters,

which therefore misses a lot of unnamed anomalies. I guess they can define

mito however they want. However, Dr. Didier Cros, an author of a Sept. 03

article in the Journal of Clinical Neuromuscular Disease, describing two

cases of Multiple Symmetrical Lipomatosis (and reviewing the literature of

same) believes I have MSL (diagnosed in 272 cases world-wide in all of

medical history) and furthermore " ALL the typical signs of mito " .

Nonetheless that's not good enough for the MDA, which apparently won't even

send me Quest for free because I'm " not on their list " . All this because MSL

patients only sometimes (28%) have a PROVEN KNOWN mutation (usually MERRF).

BTW re my reference below to a doctor who wouldn't (at first) believe my

diagnosis, he later believed me ( and that of Dr. Cros, same Neurology group

at MGH) when he saw the very odd needle-EMG results that he and another doc

determined, in that visit. But it was this second doc that " saved the day "

for me, and convinced this first doc to continue the exam. Bedside manner

between these two was like pitch-dark night and bright-sunny day. After the

second doc left the room, I asked the first doc what the second doc's name

was, to which he said " Mr. Football-head " . I've never heard one doctor put

another down like that, it was so human. The tech across the room chuckled,

as if this was some kind of standing joke.

My neuro specialist Dr. Cros is very rarely in the country let alone his

office, and his office staff frequently won't call me back after they've

said they would. So recently when they called to schedule the EMG, I

suggested that I " had thought " that my doctor wanted me to have certain

other tests. This was a major exaggeration on my part, but what the heck, I

had been TRYING to get him to order these other tests for MONTHS, and never

really heard back from HIM at all. The office person (who has apparently not

yet been fired for this) was kind enough to say that she would book these

other tests (all on the same day, because I was coming from a distance) and

THEN check with the doctor. Heh, heh, I bet THEY were never able to reach

him either.

So I guess I should be happy that I FINALLY conned the system a bit and got

a really full EMG (with the bonus needle variant, too, boy was that 3 1/2

hours a load of fun), blood sent to Athena for their full (and hopefully not

useless) mtDNA panel, and a brain MRI (very CLOSED and a bit creepy, but I

managed just fine). All in one very long day, Monday, at Mass General

Hospital in Boston. Please wish me luck with the test results, though I must

admit I don't know if hoping for " positive " is a smart thing.

Pardon the length of this post (as usual from me) but I really have a hard

time forgiving our bizarre dysfunctional medical system. It's very tiring

(as if we all have a lot of energy for this) trying to get the tests and

visits.

Regards

Steve D.

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Hi

Enclosed are a couple of points regarding medical content on your site on

the subject of mitochondrial myopathies. Please forward as appropriate.

1) In the " list of 40 " at http://www.mdausa.org/disease/40list.html in the

section entitled Mitochondrial Myopathy (MITO) there is this sentence under

Symptoms: " Generalized muscle weakness, flaccid neck muscles and inability

to walk. " Regarding " muscle weakness " , I would add " and exercise

intolerance " . While this may seem a small point, it matters a lot. I just

saw a doctor who specializes in neuromuscular myopathies, who was convinced

that my previous much-supported diagnosis of Mitochondrial Myopathy must

have been wrong, BECAUSE MY MUSCLES ARE RATHER STRONG. As it happens, my

muscle strength rapidly deteriorates upon a very small amount of exercise

(and I then also develop other symptoms such as dizziness). But even within

his specialty, this doctor had very little experience with mito, and hence

relied on the very brief statement he had learned regarding WEAKNESS. So

hopefully you can see this small point could be important in diagnosis and

treatment of this still-poorly-understood category.

2) In the same section as above, under Inheritance it says " Maternal

mitochondrial gene (mtDNA). " While this is typically quite true, there are

also a LARGE percentage of occurences where the underlying cause appears to

be spontaneous mitochondrial mutations, which are not inherited. I think the

way your statement reads, one could infer that it is mostly or always

inherited. One large category of Mitochondrial Myopathy is possibly

triggered by large-scale and/or long-term chemical exposure. Some strongly

implicated substances are alcohol, certain pesticides, and anti-HIV drugs,

and there are many other possibilities. In my case, extended use of

prescribed valproic acid (Depakote) is suspected. So I would suggest

re-wording to say for example " Frequently but not always maternal

mitochondrial gene (mtDNA). "

I hope that these little nits will be appreciated as nonetheless important.

Would the person who eventually acts on this, or decides not to, please give

me a little feedback so I at least know it was read. Thanks in advance.

Regards

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