article on mitochondrial disease

January 9, 2006

In the latest Quest Jan-Feb 2006 page 16 there's a brief reference to Dr.

Schon, who is doing research on mitochondrial disease (at Columbia in NYC).

Since mito is just one of the 40+ disease categories covered by the MDA, and his

research is exploring potential mito THERAPY (a rare thing), I was interested

and hence searched for more on him. I found his faculty profile, and a book on

mitochondria that he's co-edited, but I also found this article by him (and

another doc) in Journal of Neurology Neurosurgery and Psychiatry 2003:

http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188

I was especially interested in an included table:

http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188/T2

That table lists a handful of syndromes associated with mitochondrial disease.

What it says for " additional features " of MERRF (which I have) is: " Dementia,

optic atrophy; bilateral deafness; peripheral neuropathy; spasticity; multiple

lipomata " . That last one sure popped out of the list, for me.

You see, I have Multiple Symmetrical Lipomatosis (MSL). While mito in general is

rare, MSL is VERY rare, in fact there are about 200-400 known cases worldwide.

It is thought that MSL is underdiagnosed, because (although it's obvious once

you " see it " ) so few docs have even heard of it. It's also thought that about

20% of MSL patients have MERRF. I'm greatly encouraged to see " multiple

lipomata " listed under MERRF, since it must surely be quite rare. This listing

will hopefully aid in the diagnosis of MSL. In my case, the reverse was true,

i.e. the diagnosis of MSL led to the discovery of MERRF, but that's a hard

path...it took a lot of perseverance to get my MSL recognized (but fortunately

for me, that eventually led to blood mtDNA screening). If it hadn't been for MY

literature research and up-hill pursuit, I would never have had either of these

diagnoses.

Yes, I do realize that getting MERRF recognized is ALSO hard, but at least some

docs are beginning to have some awareness of mito diseases generally. In

inherited MERRF there is at least a blood test, albeit expensive. There is no

such thing for MSL. Something that burns me up is that many, especially older,

articles about MSL attributes it ONLY (which is now known to be very wrong) to

chronic alcoholism, and for various reasons that further contributes to

under-diagnosis. Now there's one more journal article to set the record

straighter.

Anyway, pardon my exuberance, I appreciate that there probably aren't many

people on our planet that would even care about this small point (listing

multiple lipomata under MERRF), but I'm delighted. And I thought that the very

good article would be of some common interest here.

Steve D.

P.S. I emailed this doctor offering myself for study. We'll see.

January 9, 2006

Thanks for the article, Steve, it's helpful to me. I can imagine how

validating it must feel to see *both* of your diseases listed together

and to finally have a doctor see them as part of the same picture. And

good luck with the sleep study. I'll be interested to hear what happens.

Best,

Shayna

>

> In the latest Quest Jan-Feb 2006 page 16 there's a brief reference

to Dr. Schon, who is doing research on mitochondrial disease (at

Columbia in NYC). Since mito is just one of the 40+ disease categories

covered by the MDA, and his research is exploring potential mito

THERAPY (a rare thing), I was interested and hence searched for more

on him. I found his faculty profile, and a book on mitochondria that

he's co-edited, but I also found this article by him (and another doc)

in Journal of Neurology Neurosurgery and Psychiatry 2003:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188

>

> I was especially interested in an included table:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188/T2

>

> That table lists a handful of syndromes associated with

mitochondrial disease. What it says for " additional features " of MERRF

(which I have) is: " Dementia, optic atrophy; bilateral deafness;

peripheral neuropathy; spasticity; multiple lipomata " . That last one

sure popped out of the list, for me.

>

> You see, I have Multiple Symmetrical Lipomatosis (MSL). While mito

in general is rare, MSL is VERY rare, in fact there are about 200-400

known cases worldwide. It is thought that MSL is underdiagnosed,

because (although it's obvious once you " see it " ) so few docs have

even heard of it. It's also thought that about 20% of MSL patients

have MERRF. I'm greatly encouraged to see " multiple lipomata " listed

under MERRF, since it must surely be quite rare. This listing will

hopefully aid in the diagnosis of MSL. In my case, the reverse was

true, i.e. the diagnosis of MSL led to the discovery of MERRF, but

that's a hard path...it took a lot of perseverance to get my MSL

recognized (but fortunately for me, that eventually led to blood mtDNA

screening). If it hadn't been for MY literature research and up-hill

pursuit, I would never have had either of these diagnoses.

>

> Yes, I do realize that getting MERRF recognized is ALSO hard, but at

least some docs are beginning to have some awareness of mito diseases

generally. In inherited MERRF there is at least a blood test, albeit

expensive. There is no such thing for MSL. Something that burns me up

is that many, especially older, articles about MSL attributes it ONLY

(which is now known to be very wrong) to chronic alcoholism, and for

various reasons that further contributes to under-diagnosis. Now

there's one more journal article to set the record straighter.

>

> Anyway, pardon my exuberance, I appreciate that there probably

aren't many people on our planet that would even care about this small

point (listing multiple lipomata under MERRF), but I'm delighted. And

I thought that the very good article would be of some common interest

here.

>

> Steve D.

>

> P.S. I emailed this doctor offering myself for study. We'll see.

>

January 9, 2006

Steve

Thanks for sharing.

laurie

> In the latest Quest Jan-Feb 2006 page 16 there's a brief reference to Dr.

> Schon, who is doing research on mitochondrial disease (at Columbia in

> NYC). Since mito is just one of the 40+ disease categories covered by the

> MDA, and his research is exploring potential mito THERAPY (a rare thing), I

> was interested and hence searched for more on him. I found his faculty

> profile, and a book on mitochondria that he's co-edited, but I also found

> this article by him (and another doc) in Journal of Neurology Neurosurgery

> and Psychiatry 2003:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188

>

> I was especially interested in an included table:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188/T2

>

> That table lists a handful of syndromes associated with mitochondrial

> disease. What it says for " additional features " of MERRF (which I have) is:

> " Dementia, optic atrophy; bilateral deafness; peripheral neuropathy;

> spasticity; multiple lipomata " . That last one sure popped out of the list,

> for me.

>

> You see, I have Multiple Symmetrical Lipomatosis (MSL). While mito in

> general is rare, MSL is VERY rare, in fact there are about 200-400 known

> cases worldwide. It is thought that MSL is underdiagnosed, because (although

> it's obvious once you " see it " ) so few docs have even heard of it. It's also

> thought that about 20% of MSL patients have MERRF. I'm greatly encouraged to

> see " multiple lipomata " listed under MERRF, since it must surely be quite

> rare. This listing will hopefully aid in the diagnosis of MSL. In my case,

> the reverse was true, i.e. the diagnosis of MSL led to the discovery of

> MERRF, but that's a hard path...it took a lot of perseverance to get my MSL

> recognized (but fortunately for me, that eventually led to blood mtDNA

> screening). If it hadn't been for MY literature research and up-hill

> pursuit, I would never have had either of these diagnoses.

>

> Yes, I do realize that getting MERRF recognized is ALSO hard, but at least

> some docs are beginning to have some awareness of mito diseases generally.

> In inherited MERRF there is at least a blood test, albeit expensive. There

> is no such thing for MSL. Something that burns me up is that many,

> especially older, articles about MSL attributes it ONLY (which is now known

> to be very wrong) to chronic alcoholism, and for various reasons that

> further contributes to under-diagnosis. Now there's one more journal article

> to set the record straighter.

>

> Anyway, pardon my exuberance, I appreciate that there probably aren't many

> people on our planet that would even care about this small point (listing

> multiple lipomata under MERRF), but I'm delighted. And I thought that the

> very good article would be of some common interest here.

>

> Steve D.

>

> P.S. I emailed this doctor offering myself for study. We'll see.

>

January 9, 2006

I can appreciate your aha! moment. Maybe you could even call it an epiphany.

I've had one or two of those myself and remember the feeling well. Thanks

for posting those links........great article, full text even. Schon is

well-known and respected. I have some quotes from him I got somewhere, but

had not seen this one, or at least don't remember seeing it (memory cells

dying daily, it seems).

Cheers!

Barbara

> article on mitochondrial disease

>

> In the latest Quest Jan-Feb 2006 page 16 there's a brief reference to Dr.

> Schon, who is doing research on mitochondrial disease (at Columbia in

NYC).

> Since mito is just one of the 40+ disease categories covered by the MDA,

and his

> research is exploring potential mito THERAPY (a rare thing), I was

interested and

> hence searched for more on him. I found his faculty profile, and a book on

> mitochondria that he's co-edited, but I also found this article by him

(and another

> doc) in Journal of Neurology Neurosurgery and Psychiatry 2003:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188

>

> I was especially interested in an included table:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188/T2

>

> That table lists a handful of syndromes associated with mitochondrial

disease.

> What it says for " additional features " of MERRF (which I have) is:

" Dementia, optic

> atrophy; bilateral deafness; peripheral neuropathy; spasticity; multiple

lipomata " .

> That last one sure popped out of the list, for me.

>

> You see, I have Multiple Symmetrical Lipomatosis (MSL). While mito in

general is

> rare, MSL is VERY rare, in fact there are about 200-400 known cases

worldwide. It

> is thought that MSL is underdiagnosed, because (although it's obvious once

you

> " see it " ) so few docs have even heard of it. It's also thought that about

20% of MSL

> patients have MERRF. I'm greatly encouraged to see " multiple lipomata "

listed

> under MERRF, since it must surely be quite rare. This listing will

hopefully aid in the

> diagnosis of MSL. In my case, the reverse was true, i.e. the diagnosis of

MSL led to

> the discovery of MERRF, but that's a hard path...it took a lot of

perseverance to get

> my MSL recognized (but fortunately for me, that eventually led to blood

mtDNA

> screening). If it hadn't been for MY literature research and up-hill

pursuit, I would

> never have had either of these diagnoses.

>

> Yes, I do realize that getting MERRF recognized is ALSO hard, but at least

some

> docs are beginning to have some awareness of mito diseases generally. In

> inherited MERRF there is at least a blood test, albeit expensive. There is

no such

> thing for MSL. Something that burns me up is that many, especially older,

articles

> about MSL attributes it ONLY (which is now known to be very wrong) to

chronic

> alcoholism, and for various reasons that further contributes to

under-diagnosis.

> Now there's one more journal article to set the record straighter.

>

> Anyway, pardon my exuberance, I appreciate that there probably aren't many

> people on our planet that would even care about this small point (listing

multiple

> lipomata under MERRF), but I'm delighted. And I thought that the very good

article

> would be of some common interest here.

>

> Steve D.

>

> P.S. I emailed this doctor offering myself for study. We'll see.

>

January 9, 2006

Steve,

Please know that WE care.

>Anyway, pardon my exuberance, I appreciate that there probably aren't many

people on our planet that would even care about this small point (listing

multiple lipomata under MERRF), but I'm delighted. And I thought that the very

good article would be of some common interest here.

>

>Steve D.

>

>P.S. I emailed this doctor offering myself for study. We'll see.

>

January 9, 2006

Great article, thanks Steve

------------------------------------------------------------------------------

January 9, 2006

Thanks Steve. This link led me to an article " Review of the Literature

on Major Mental Disorders in Adult Patients with Mitochondrial

Diseases " , something I have been looking for for some time. I have not

had time to digest the entire article but hopefully it will be helpful

in understanding my daughter's problems. Shelby

> In the latest Quest Jan-Feb 2006 page 16 there's a brief reference to

> Dr. Schon, who is doing research on mitochondrial disease (at

> Columbia in NYC). Since mito is just one of the 40+ disease categories

> covered by the MDA, and his research is exploring potential mito

> THERAPY (a rare thing), I was interested and hence searched for more

> on him. I found his faculty profile, and a book on mitochondria that

> he's co-edited, but I also found this article by him (and another doc)

> in Journal of Neurology Neurosurgery and Psychiatry 2003:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188

>

> I was especially interested in an included table:

>

> http://jnnp.bmjjournals.com/cgi/content/full/74/9/1188/T2

>

> That table lists a handful of syndromes associated with mitochondrial

> disease. What it says for " additional features " of MERRF (which I

> have) is: " Dementia, optic atrophy; bilateral deafness; peripheral

> neuropathy; spasticity; multiple lipomata " . That last one sure popped

> out of the list, for me.

>

> You see, I have Multiple Symmetrical Lipomatosis (MSL). While mito in

> general is rare, MSL is VERY rare, in fact there are about 200-400

> known cases worldwide. It is thought that MSL is underdiagnosed,

> because (although it's obvious once you " see it " ) so few docs have

> even heard of it. It's also thought that about 20% of MSL patients

> have MERRF. I'm greatly encouraged to see " multiple lipomata " listed

> under MERRF, since it must surely be quite rare. This listing will

> hopefully aid in the diagnosis of MSL. In my case, the reverse was

> true, i.e. the diagnosis of MSL led to the discovery of MERRF, but

> that's a hard path...it took a lot of perseverance to get my MSL

> recognized (but fortunately for me, that eventually led to blood mtDNA

> screening). If it hadn't been for MY literature research and up-hill

> pursuit, I would never have had either of these diagnoses.

>

> Yes, I do realize that getting MERRF recognized is ALSO hard, but at

> least some docs are beginning to have some awareness of mito diseases

> generally. In inherited MERRF there is at least a blood test, albeit

> expensive. There is no such thing for MSL. Something that burns me up

> is that many, especially older, articles about MSL attributes it ONLY

> (which is now known to be very wrong) to chronic alcoholism, and for

> various reasons that further contributes to under-diagnosis. Now

> there's one more journal article to set the record straighter.

>

> Anyway, pardon my exuberance, I appreciate that there probably aren't

> many people on our planet that would even care about this small point

> (listing multiple lipomata under MERRF), but I'm delighted. And I

> thought that the very good article would be of some common interest

> here.

>

> Steve D.

>

> P.S. I emailed this doctor offering myself for study. We'll see.

>

January 11, 2006

Within a few hours of emailing Dr. Schon (author of the article) at Columbia, I

received the following reply:

Dear Mr. Duerksen,

Schon forwarded your e-mail to us because he does not treat patients. We

would be pleased to review your medical records and evaluate your condition at

our neuromuscular center. We are particularly interested in lipomas in MERRF

patients.

If you wish to be evaluated at our center, you can make an appointment by

calling .

Sincerely,

Michio Hirano, MD

Begin forwarded message:

From: Schon

Date: Mon Jan 9, 2006 8:23:10 AM America/New_York

To: DiMauro Salvatore, Hirano Michio

Subject: Fwd: from patient with MERRF and MSL

Begin forwarded message:

Date: January 9, 2006 3:23:21 AM EST

To: eas3@...>

Subject: from patient with MERRF and MSL

Dr. Schon

I am a 56-year-old male with Multiple Symmetrical Lipomatosis (MSL) and

MERRF (A8344G in blood). Of course, I also have a slew of other neurological and

muscular symptoms.

I live not too far from NYC, on Cape Cod in Massachusetts, and I am

ambulatory (on SSDI). I offer myself to you for study etc.

Please reply (or forward this email as appropriate) if interested. I can

supply detailed records if you wish.

Regards

P.S. I first read about you in Quest (MDA) Jan-Feb 2006 page 16.

Even the famous Dr. DiMauro is cc'ed, how cool is that? My search on the

Internet for Dr. Hirano leads me to much confidence and hope. A problem for me

now is the question of financing such a visit. For one thing, I now have only

Medicare Part B. At MGH in Boston all my doctor visits AND very expensive labs

have been magically entirely covered, partly by the generosity of Massachusett's

" free care pool " (Medicaid) and, at times, by MassHealth (Mass. " enhanced "

Medicaid) which I no longer have because my measly SSDI is so luxuriously high.

:-) But this clinic is in NYC. I will also need to pay travel and lodging

expenses of course, not inconsiderable there.

QUESTIONS: Should I ask them for help with any of these expenses? Are they

implying that they wouldn't be looking at my extensive records until I arrived

there? Is that usual, or does one send all this in advance? I'm fearful about my

endurance if the visit is day-long. Also, should I invite the cooperation of my

current pair of (somewhat less than involved) neuro docs at MGH, or will that

only delay things more? Does anyone have any experience with this clinic, or

Columbia Medical generally?

This repsonse from Columbia was very hopeful for me, especially since I just

today visited a neurologist here on Cape Cod, for headaches. This guy ignored

most of what I tried very diplomatically to show him. He HAD heard of

mitochondrial diseases, but characterized this as " muscular dystrophy " and

therefore certainly not the cause of my headaches (a bizarre conclusion IMHO).

One of his rationales was that I had mito only in the last five years, but I had

these headaches all my life. I tried to explain that my mito was an inborn

mutation that typically shows severe SYMPTOMS only later in life, but to no

avail. He confused my strength with my reported exercise intolerance, as have

most doctors. He even dismissed my MRIs which clearly show big lipomas on the

back of my head, with obvious potential for mass effect on blood vessels and

nerves. He didn't really hear me when I told him that I USED to get tension

headaches but now it was quite different. So I ended up with a scrip for Elavil,

and another appointment in two weeks. I'm debating whether to continue with this

probably useless doc. Any thoughts?

Steve D.

January 11, 2006

Steve,

I am a patient of Dr Hirano's, a former patient of Dr DiMauro's and Dr Schon

is listed on my biopsy report so maybe I can help. Dr Hirano has a MDA

clinic on Mondays. Whatever isn't covered by your insurance is covered by MDA

including tests and biopies. I'm not sure about studies but I know that Dr

Hirano said in the past that some of the tests that were done on me were

covered

by grant money. They might even compensate for travel costs. When I did a

drug study at Strong Hospital, I was admitted onto a floor in the hospital

even for the pre-testing. I'm sure all studies are different though. Columbia

doesn't have a Mc House (the only one in NYC is for pediatric

cancer patients) but they can refer you to the YMCA or a hotel they do

business with for a reduced rate. I often stay at the Midtown YMCA which is

quite

nice and in a great area. The rooms are clean and some have private baths.

The shared baths are fine too though. I think my rate was $40. Columbia

Presbyterian social workers have to refer you to get that discount. I can't

remember the hotel they use but I think its in New Jersey. I have some

recommendations for great restaurants and NYC discounts if you are interested.

Feel

free to ask any questions.

S

January 11, 2006

Steve,

That sounds like great news to me. I have always thought that if I

could find a doctor who was truly interested in my particular medical

idiosyncracies that they would work harder to figure out what was

going on and how to treat it. (I.e. it fits in with their own agenda).

I realize that with diseases like this there might be only so much

that they can do, but with some sincere thought, innovation, research

and dedication you never know what will happen. Then there's the

possibility of understanding and respect, which it seems haven't been

the strong suits of your current doctors. How are you feeling about

their invitation?

Best,

Shayna

>

> Within a few hours of emailing Dr. Schon (author of the article) at

Columbia, I received the following reply:

>

> Dear Mr. Duerksen,

>

> Schon forwarded your e-mail to us because he does not treat

patients. We would be pleased to review your medical records and

evaluate your condition at our neuromuscular center. We are

particularly interested in lipomas in MERRF patients.

>

> If you wish to be evaluated at our center, you can make an

appointment by calling .

>

> Sincerely,

> Michio Hirano, MD

>

> Begin forwarded message:

>

> From: Schon

> Date: Mon Jan 9, 2006 8:23:10 AM America/New_York

> To: DiMauro Salvatore, Hirano Michio

> Subject: Fwd: from patient with MERRF and MSL

>

> Begin forwarded message:

>

> From: " Steve "

> Date: January 9, 2006 3:23:21 AM EST

> To:

> Subject: from patient with MERRF and MSL

>

> Dr. Schon

>

> I am a 56-year-old male with Multiple Symmetrical Lipomatosis

(MSL) and MERRF (A8344G in blood). Of course, I also have a slew of

other neurological and muscular symptoms.

>

> I live not too far from NYC, on Cape Cod in Massachusetts, and I

am ambulatory (on SSDI). I offer myself to you for study etc.

>

> Please reply (or forward this email as appropriate) if

interested. I can supply detailed records if you wish.

>

> Regards

> P.S. I first read about you in Quest (MDA) Jan-Feb 2006 page 16.

>

> Even the famous Dr. DiMauro is cc'ed, how cool is that? My search on

the Internet for Dr. Hirano leads me to much confidence and hope. A

problem for me now is the question of financing such a visit. For one

thing, I now have only Medicare Part B. At MGH in Boston all my doctor

visits AND very expensive labs have been magically entirely covered,

partly by the generosity of Massachusett's " free care pool " (Medicaid)

and, at times, by MassHealth (Mass. " enhanced " Medicaid) which I no

longer have because my measly SSDI is so luxuriously high. :-) But

this clinic is in NYC. I will also need to pay travel and lodging

expenses of course, not inconsiderable there.

>

> QUESTIONS: Should I ask them for help with any of these expenses?

Are they implying that they wouldn't be looking at my extensive

records until I arrived there? Is that usual, or does one send all

this in advance? I'm fearful about my endurance if the visit is

day-long. Also, should I invite the cooperation of my current pair of

(somewhat less than involved) neuro docs at MGH, or will that only

delay things more? Does anyone have any experience with this clinic,

or Columbia Medical generally?

>

> This repsonse from Columbia was very hopeful for me, especially

since I just today visited a neurologist here on Cape Cod, for

headaches. This guy ignored most of what I tried very diplomatically

to show him. He HAD heard of mitochondrial diseases, but characterized

this as " muscular dystrophy " and therefore certainly not the cause of

my headaches (a bizarre conclusion IMHO). One of his rationales was

that I had mito only in the last five years, but I had these headaches

all my life. I tried to explain that my mito was an inborn mutation

that typically shows severe SYMPTOMS only later in life, but to no

avail. He confused my strength with my reported exercise intolerance,

as have most doctors. He even dismissed my MRIs which clearly show big

lipomas on the back of my head, with obvious potential for mass effect

on blood vessels and nerves. He didn't really hear me when I told him

that I USED to get tension headaches but now it was quite different.

So I ended up with a scrip for Elavil, and another appointment in two

weeks. I'm debating whether to continue with this probably useless

doc. Any thoughts?

>

> Steve D.

>

January 11, 2006

Steve

Usually travel expenses aren't covered. You could start trying to find

some group near your home that would help with this. Many

organizations have lots of money to spare - Elks, Lions, churches,

Hospital axillaries. I would try anyplace that supports MDA or even

ask a local business to put your story in the menues and a jar on

thier check-out or fliers. You should probably ask if they have a

hotel or Mc house that you could use while staying there.

As for endurance, use one of their wheelchairs and have a hospital

person (often volunteer) to push you aroung if you are going to be

alone.

Good luck,

laurie

> Within a few hours of emailing Dr. Schon (author of the article) at

> Columbia, I received the following reply:

>

> Dear Mr. Duerksen,

>

> Schon forwarded your e-mail to us because he does not treat

> patients. We would be pleased to review your medical records and evaluate

> your condition at our neuromuscular center. We are particularly interested

> in lipomas in MERRF patients.

>

> If you wish to be evaluated at our center, you can make an appointment by

> calling .

>

> Sincerely,

> Michio Hirano, MD

>

> Begin forwarded message:

>

> From: Schon

> Date: Mon Jan 9, 2006 8:23:10 AM America/New_York

> To: DiMauro Salvatore, Hirano Michio

> Subject: Fwd: from patient with MERRF and MSL

>

> Begin forwarded message:

>

> Date: January 9, 2006 3:23:21 AM EST

> To: eas3@...>

> Subject: from patient with MERRF and MSL

>

> Dr. Schon

>

> I am a 56-year-old male with Multiple Symmetrical Lipomatosis (MSL) and

> MERRF (A8344G in blood). Of course, I also have a slew of other neurological

> and muscular symptoms.

>

> I live not too far from NYC, on Cape Cod in Massachusetts, and I am

> ambulatory (on SSDI). I offer myself to you for study etc.

>

> Please reply (or forward this email as appropriate) if interested. I

> can supply detailed records if you wish.

>

> Regards

> P.S. I first read about you in Quest (MDA) Jan-Feb 2006 page 16.

>

> Even the famous Dr. DiMauro is cc'ed, how cool is that? My search on the

> Internet for Dr. Hirano leads me to much confidence and hope. A problem for

> me now is the question of financing such a visit. For one thing, I now have

> only Medicare Part B. At MGH in Boston all my doctor visits AND very

> expensive labs have been magically entirely covered, partly by the

> generosity of Massachusett's " free care pool " (Medicaid) and, at times, by

> MassHealth (Mass. " enhanced " Medicaid) which I no longer have because my

> measly SSDI is so luxuriously high. :-) But this clinic is in NYC. I will

> also need to pay travel and lodging expenses of course, not inconsiderable

> there.

>

> QUESTIONS: Should I ask them for help with any of these expenses? Are they

> implying that they wouldn't be looking at my extensive records until I

> arrived there? Is that usual, or does one send all this in advance? I'm

> fearful about my endurance if the visit is day-long. Also, should I invite

> the cooperation of my current pair of (somewhat less than involved) neuro

> docs at MGH, or will that only delay things more? Does anyone have any

> experience with this clinic, or Columbia Medical generally?

>

> This repsonse from Columbia was very hopeful for me, especially since I

> just today visited a neurologist here on Cape Cod, for headaches. This guy

> ignored most of what I tried very diplomatically to show him. He HAD heard

> of mitochondrial diseases, but characterized this as " muscular dystrophy "

> and therefore certainly not the cause of my headaches (a bizarre conclusion

> IMHO). One of his rationales was that I had mito only in the last five

> years, but I had these headaches all my life. I tried to explain that my

> mito was an inborn mutation that typically shows severe SYMPTOMS only later

> in life, but to no avail. He confused my strength with my reported exercise

> intolerance, as have most doctors. He even dismissed my MRIs which clearly

> show big lipomas on the back of my head, with obvious potential for mass

> effect on blood vessels and nerves. He didn't really hear me when I told him

> that I USED to get tension headaches but now it was quite different. So I

> ended up with a scrip for Elavil, and another appointment in two weeks. I'm

> debating whether to continue with this probably useless doc. Any thoughts?

>

> Steve D.

>

January 11, 2006

Connections, connections, they can make all the difference. I'm so glad you

have this opportunity and hope you can find a way to make the trip.

Cheers!

Barbara

> Within a few hours of emailing Dr. Schon (author of the article) at

Columbia, I

> received the following reply:

>

> Dear Mr. Duerksen,

>

> Schon forwarded your e-mail to us because he does not treat

patients. We

> would be pleased to review your medical records and evaluate your

condition at our

> neuromuscular center. We are particularly interested in lipomas in MERRF

patients.

>

> If you wish to be evaluated at our center, you can make an appointment

by calling

> .

>

> Sincerely,

> Michio Hirano, MD

>

> Begin forwarded message:

>

> From: Schon

> Date: Mon Jan 9, 2006 8:23:10 AM America/New_York

> To: DiMauro Salvatore, Hirano Michio

> Subject: Fwd: from patient with MERRF and MSL

>

> Begin forwarded message:

>

> Date: January 9, 2006 3:23:21 AM EST

> To: eas3@...>

> Subject: from patient with MERRF and MSL

>

> Dr. Schon

>

> I am a 56-year-old male with Multiple Symmetrical Lipomatosis (MSL)

and

> MERRF (A8344G in blood). Of course, I also have a slew of other

neurological and

> muscular symptoms.

>

> I live not too far from NYC, on Cape Cod in Massachusetts, and I am

ambulatory

> (on SSDI). I offer myself to you for study etc.

>

> Please reply (or forward this email as appropriate) if interested. I

can supply

> detailed records if you wish.

>

> Regards

> P.S. I first read about you in Quest (MDA) Jan-Feb 2006 page 16.

>

> Even the famous Dr. DiMauro is cc'ed, how cool is that? My search on the

Internet

> for Dr. Hirano leads me to much confidence and hope. A problem for me now

is the

> question of financing such a visit. For one thing, I now have only

Medicare Part B.

> At MGH in Boston all my doctor visits AND very expensive labs have been

> magically entirely covered, partly by the generosity of Massachusett's

" free care

> pool " (Medicaid) and, at times, by MassHealth (Mass. " enhanced " Medicaid)

which

> I no longer have because my measly SSDI is so luxuriously high. :-) But

this clinic

> is in NYC. I will also need to pay travel and lodging expenses of course,

not

> inconsiderable there.

>

> QUESTIONS: Should I ask them for help with any of these expenses? Are they

> implying that they wouldn't be looking at my extensive records until I

arrived there?

> Is that usual, or does one send all this in advance? I'm fearful about my

endurance

> if the visit is day-long. Also, should I invite the cooperation of my

current pair of

> (somewhat less than involved) neuro docs at MGH, or will that only delay

things

> more? Does anyone have any experience with this clinic, or Columbia

Medical

> generally?

>

> This repsonse from Columbia was very hopeful for me, especially since I

just today

> visited a neurologist here on Cape Cod, for headaches. This guy ignored

most of

> what I tried very diplomatically to show him. He HAD heard of

mitochondrial

> diseases, but characterized this as " muscular dystrophy " and therefore

certainly not

> the cause of my headaches (a bizarre conclusion IMHO). One of his

rationales was

> that I had mito only in the last five years, but I had these headaches all

my life. I

> tried to explain that my mito was an inborn mutation that typically shows

severe

> SYMPTOMS only later in life, but to no avail. He confused my strength with

my

> reported exercise intolerance, as have most doctors. He even dismissed my

MRIs

> which clearly show big lipomas on the back of my head, with obvious

potential for

> mass effect on blood vessels and nerves. He didn't really hear me when I

told him

> that I USED to get tension headaches but now it was quite different. So I

ended up

> with a scrip f

> or Elavil, and another appointment in two weeks. I'm debating whether to

continue

> with this probably useless doc. Any thoughts?

>

> Steve D.

>

January 11, 2006

Go for it Steve!

Steve wrote:

>Within a few hours of emailing Dr. Schon (author of the article) at Columbia, I

received the following reply:

>

> Dear Mr. Duerksen,

>

> Schon forwarded your e-mail to us because he does not treat patients. We

would be pleased to review your medical records and evaluate your condition at

our neuromuscular center. We are particularly interested in lipomas in MERRF

patients.

>

> If you wish to be evaluated at our center, you can make an appointment by

calling .

>

> Sincerely,

> Michio Hirano, MD

>

> Begin forwarded message:

>

> From: Schon

> Date: Mon Jan 9, 2006 8:23:10 AM America/New_York

> To: DiMauro Salvatore, Hirano Michio

> Subject: Fwd: from patient with MERRF and MSL

>

> Begin forwarded message:

>

> Date: January 9, 2006 3:23:21 AM EST

> To: eas3@...>

> Subject: from patient with MERRF and MSL

>

> Dr. Schon

>

> I am a 56-year-old male with Multiple Symmetrical Lipomatosis (MSL) and

MERRF (A8344G in blood). Of course, I also have a slew of other neurological and

muscular symptoms.

>

> I live not too far from NYC, on Cape Cod in Massachusetts, and I am

ambulatory (on SSDI). I offer myself to you for study etc.

>

> Please reply (or forward this email as appropriate) if interested. I can

supply detailed records if you wish.

>

> Regards

> P.S. I first read about you in Quest (MDA) Jan-Feb 2006 page 16.

>

>Even the famous Dr. DiMauro is cc'ed, how cool is that? My search on the

Internet for Dr. Hirano leads me to much confidence and hope. A problem for me

now is the question of financing such a visit. For one thing, I now have only

Medicare Part B. At MGH in Boston all my doctor visits AND very expensive labs

have been magically entirely covered, partly by the generosity of Massachusett's

" free care pool " (Medicaid) and, at times, by MassHealth (Mass. " enhanced "

Medicaid) which I no longer have because my measly SSDI is so luxuriously high.

:-) But this clinic is in NYC. I will also need to pay travel and lodging

expenses of course, not inconsiderable there.

>

>QUESTIONS: Should I ask them for help with any of these expenses? Are they

implying that they wouldn't be looking at my extensive records until I arrived

there? Is that usual, or does one send all this in advance? I'm fearful about my

endurance if the visit is day-long. Also, should I invite the cooperation of my

current pair of (somewhat less than involved) neuro docs at MGH, or will that

only delay things more? Does anyone have any experience with this clinic, or

Columbia Medical generally?

>

>This repsonse from Columbia was very hopeful for me, especially since I just