Re: my recent tests, and MDA website handling of mito

December 15, 2004

I do wish you luck, Steve. Also offer my sincere admiration for your

creativity in getting the tests scheduled, and your colorful, and

unarguably all too frequently correct, description of the medical

system. I find interfacing with it a most frustrating experience the

vast majority of the time.

I have an MRI scheduled in the morning - hopefully a routine follow up

of an adrenal nodule that is not expected to be problematic.

Unfortunately claustrophobia is one of my little foibles, so I will be

very happy when I have that hurdle behind me.

Best Regards,

Sunny

>

> 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.

>

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

> -----

> 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

>

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

> -----

> ---

>

> 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.

>

December 15, 2004

I do wish you luck, Steve. Also offer my sincere admiration for your

creativity in getting the tests scheduled, and your colorful, and

unarguably all too frequently correct, description of the medical

system. I find interfacing with it a most frustrating experience the

vast majority of the time.

I have an MRI scheduled in the morning - hopefully a routine follow up

of an adrenal nodule that is not expected to be problematic.

Unfortunately claustrophobia is one of my little foibles, so I will be

very happy when I have that hurdle behind me.

Best Regards,

Sunny

>

> 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.

>

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

> -----

> 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

>

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

> -----

> ---

>

> 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.

>

December 16, 2004

Hi Steve, always enjoy your posts and just had a few thoughts to add to your

thoughts.

I know you are quite savvy re the health care system, but would hope that

somewhere there is a neuro for you whose office actually returns calls and

who is more available. I have put up with this kind of doctor poverty at

times because it seemed the only option (and probably was) but am happy to

say better care IS available and that I have found it. I hope you may find

such connections eventually, even if it is like searching for the proverbial

needle in the haystack of medicine.

Re MDA and mitochondrial myopathy, I think most of us would agree that UMDF

provides a more accurate, balanced and up-to-date picture of mitochondrial

disorders. Some mito experts even consider the term " mitochondrial myopathy "

outdated and misleading because they believe mito by definition is a

multi-system disease and not confined to muscle. MDA uses the term because

their focus is muscle and that justifies including it under their umbrella.

Re inheritance, I would add that in addition to spontaneous mtDNA mutations,

many mitochondrial proteins are nuclear encoded. For a thorough look at this

issue, see " The Genetics of Mitochondrial Disorders " by Amy Goldstein, MD in

the Summer 2003 issue of Mitochondrial News. She says, " A common misnomer

about mitochondrial disorders is that they are inherited only through the

mother. While a handful of disorders are maternally inherited, the vast

majority of mitochondrial disorders are autosomal recessive in nature. "

I admire your efforts to provide MDA with feedback. If you would like a

specific contact within MDA, I would suggest Sharon Hesterlee. Sharon is

currently Director of Research, but in years past has written many of the

best articles in Quest. She is quite knowledgeable and very patient

responsive. I would be surprised if you did not get a personal reply from

her. Contact info below.

Take care,

Barbara

Sharon Hesterlee, Ph.D.

Director of Research Development

Muscular Dystrophy Association

shesterlee@...

December 16, 2004