response to complex I diagnosis

[Guest guest]

Laurie,

Thank you for asking how I am doing regarding the results. Oddly, I

am reacting differently than I expected. I expected to be relieved;

five years of a Multiple sclerosis diagnosis that did not act or

respond as the doctors expected...I thought I would be relieved...but

Dr. Shofner recommended 500 mg of COq10 a day...(can that be right?)

We are having a difficult time paying for it as it is now. And I

don't know what the implications are for the children.

I don't know what the implications are for me either. Their was

something in the report about renal something or other...of course I

already know about the " brain stuff " and the cardiomyopathy.

My son who has had some seizure activity...I'm not sure what this

means for him or my other son, that Cohen had wanted to biopsy a

couple of years ago.

Dr. Shoffener had said that we could come back and talk with him

about the results...but his assistant said there is no more room for

this year...and that makes it more difficult because it starts

another year with the insurance payments, deductables and all that.

The site that referenced was and is helpful...and your plain

english about complex 1 helps.

Does this mean that when my son goes to the hospital or I do, that I

no longer will get those glazed over looks...if I can say it is

mitochondrial complex 1?

Thanks for being there.

Vivian

> > I received my report from Shofner...it says mitochondrial

> > encephalomyopathy; complex I defect.

> >

> > I feel like I'm more lost than before...what does a complex I

indicate?

> > I know what the mito enephalomopahty means...(brain

lessions)...but

> > can anyone help me understand or where to go to understand the

> > implications of a complex I for me and for my family?

> >

> > Thanks,

> >

> > Vivian

> >

> >

> >

> >

> >

> > 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.

> >

> >

> >

> >

> >

> >

[Guest guest]

I have same dx as Laurie and you - mitochondrial encephalomyopathy,

Complex I defect. Mine is considered " MELAS-phenotype " because many

of my symptoms match MELAS, but no known genetic defect that is

considered MELAS. Knowing it is Complex I helps me and my doctors

figure out how to best treat my condition. I don't have a CoQ10

deficiency, and have had trouble with taking even a little bit of

CoQ10. I take NADH, which is the other " raw material " for the

Complex I reaction and that helps me tremendously (but doesn't work

well for some).

I also just started B2 (riboflavin), which gives " raw material " to

Complex 2, which in my case seems to work. I've found some

improvement with that as well. I currently don't take carnitine or

CoQ10.

I was VERY happy to get my dx, I was misdiagnosed with myasthenia

gravis for years, and the results I am getting from supplements

tailored to my dx has been excellent. I was also happy because my

middle child has some symptoms and he is being followed up as

possible mito - if I didn't have a dx, we wouldn't know where to

begin with his issues...

I have no brain lesions and also am very strong, but little endurance

unless my heart and breathing rates increase a lot. I have had

seizure-like and stroke-like episodes frequently in the past, but I

feel that the NADH seems to keep them under control. YMMV, I'm not a

medical doctor, but I take NADH per Dr. Shoffner's " mito cocktail "

list.

Re: glazed looks, they will still give you glazed looks, because many

medical professionals aren't aware of these conditions, but now you

can give them an exact dx.

Has your son had lactate/pyruvate tested?

Take care,

RH

> > > I received my report from Shofner...it says mitochondrial

> > > encephalomyopathy; complex I defect.

> > >

> > > I feel like I'm more lost than before...what does a complex I

> indicate?

> > > I know what the mito enephalomopahty means...(brain

> lessions)...but

> > > can anyone help me understand or where to go to understand the

> > > implications of a complex I for me and for my family?

> > >

> > > Thanks,

> > >

> > > Vivian

> > >

> > >

> > >

> > >

> > >

> > > 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.

> > >

> > >

> > >

> > >

> > >

> > >

[Guest guest]

Concerning the amount of CoQ10, I was told to take 1/3 of the

prescribed amount of the Tishcon QGel or liquid would be equivalent.

Other brands you would need to take the full amount. So I was

prescribed 180 mg/day, and I was taking 60 mg/day of the QGel, with

my doctor's okay and understanding that that is equivalent.

Take care,

RH

> > > > I received my report from Shofner...it says mitochondrial

> > > > encephalomyopathy; complex I defect.

> > > >

> > > > I feel like I'm more lost than before...what does a complex

I

> > indicate?

> > > > I know what the mito enephalomopahty means...(brain

> > lessions)...but

> > > > can anyone help me understand or where to go to understand

the

> > > > implications of a complex I for me and for my family?

> > > >

> > > > Thanks,

> > > >

> > > > Vivian

> > > >

> > > >

> > > >

> > > >

> > > >

> > > > 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.

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

[Guest guest]

That resident was more knowledgeable than most medical professionals

I see (although more tactless I guess). Unfortunately, that's about

the same line I use when a doctor or nurse asks me multiple

times " exactly what does that mean? " when I mention my dx.

After trying to explain it a bit exactly (I almost always have to

spell " mitochondrial encephalomyopathy, Complex I defect, MELAS

phenotype " , and explain each part of it), for medical professionals I

default to " It's similar to diseases they test on the newborn

screening panel. I have adult-onset, which is usually less severe

than early onset. " What it conveys is that yes, it is serious, and a

real illness.

I feel that my problem with discussing mito with medical

professionals is that I can't default to the " it's a problem with

energy creation in the cells " that I tell laypeople. My most general

comment to laypeople is " It's a metabolic disease. " or " It's a

neuromuscular disease, kind of like MS. " Unfortunately, sometimes

any of these comments lead to further conversation, which usually is

really annoying ( " So, do you have MS? " " You look okay to me, are they

sure? " ). Several of my family members don't believe I am ill at all,

so the point of what I have doesn't even come up in conversation.

Just a banality comparison - my husband was reamed out by his mom for

not " being nicer " to her new boyfriend. We had gone out to dinner,

and usually leave by 7 pm, after hanging around her house for a bit.

Going out to dinner is quite a stressor for me, although my husband

drives the car and helps tremendously with the kids. The new

boyfriend shows up after 7 pm, and of course normally we would have

been gone by then, and I often doze in the car.

I was really tired, and wanted to go home, and my husband knew I did

too (I was trying not to act aggravated and tired however, and didn't

comment on it - he knows when I'm not feeling well). So we really

didn't speak to the new boyfriend too much, especially with the TV on

and the three kids there, and his mom later yells at him on the phone

for not " striking up a conversation " with the new boyfriend. My

husband is too polite to say " my wife is ill, she was tired and

wanted to go home, and I was uncomfortable starting a conversation in

that situation " . My MIL just doesn't understand that things that

are " little bothers " to other people can be big deals to me (like

staying an extra half hour or going to sleep too late).

Sorry if I got off track, but I think if one says " I have diabetes "

or some other " known " illness, life is a lot easier when dealing with

medical professionals, family, and friends. Maybe we should carry

around the encyclopedia of rare diseases LOL.

Take care,

RH

>

> > Does this mean that when my son goes to the hospital

> > or I do, that I

> > no longer will get those glazed over looks...if I

> > can say it is

> > mitochondrial complex 1?

>

> Vivian,

>

> I wish it did but the reality is that docs don't know

> about it at all. A resident where I used to work asked

> me about my kids. I said that they had suspected mito.

> He said, " Oh, you mean that rare thing found in babies

> and they die. "

>

> My son and I both take CoQ10 200mg @X/day.

>

>

>

>

> Mom to the two best kids in the world!

> http://www.caringbridge.org/visit/thomasandkatie

>

> __________________________________________________

>

[Guest guest]

> After trying to explain it a bit exactly (I almost always have to

> spell " mitochondrial encephalomyopathy, Complex I defect, MELAS

> phenotype " , and explain each part of it), for medical professionals I

> default to " It's similar to diseases they test on the newborn

> screening panel. I have adult-onset, which is usually less severe

> than early onset. " What it conveys is that yes, it is serious, and a

> real illness.

RH, I like your comparison to the newborn screening panel and will remember

that for future reference. CPT is on the newborn screening panel in many

states now. One other " insider " phrase I find that helps with medical

professionals is " inborn error in metabolism. " They always recognize this

general category of disease as both genetic and serious, and usually the

first follow-up question is, " What enzyme are you missing? " since inborn

errors in metabolism always involve deficient enzymes. In your case, it

would be " complex I. " My answer is a bit more complicated since I'm missing

multiple enzymes in several different metabolic cycles, which tends to evoke

the glazed eye syndrome again. Sigh.

> I feel that my problem with discussing mito with medical

> professionals is that I can't default to the " it's a problem with

> energy creation in the cells " that I tell laypeople

When you use this explanation, do people ever say, " Oh, so you're just tired

all the time? I'm tired too. " I've had this response enough times that I've

abandoned the cellular energy explanation. Generally I stick with " metabolic

disease " or " neuromuscular disease " or once in a while--for the

exceptionally nosy--blow them away with the whole long title---which

invariably results in a stunned silence and no further questions.

Ahhhhhhhhhhhh. :-)

Barbara

[Guest guest]

I get that " Boy, I'm tired a lot too! " , but also " Short term memory

loss, I forget things all the time too! " . I forgot my 2 year old

daughter at a fair once, and the police were with her and luckily it

had only been a few minutes and I was only 20 feet away or there

would have been heck to pay. It wasn't just that I forgot I was

strolling her, it was that I forgot she was with us or who she was

(not for very long, but long enough). I cried for hours after that,

my husband was first p.o.'d (he was watching my other two kids away

from me), but he realized how upset I was and let me continue

strolling her at the fair with the stroller leash around my wrist for

safety (I'm sure he was watching us like a hawk after that LOL).

BTW, I feel like my short term memory loss and absence seizures are

pretty minimal at the moment, I'm trying to keep my current

supplement regimen in place. It's harder to keep on the high

protein, low carb diet, but I find that that affects my stamina more

than my cognitive issues, so I feel like being weak isn't as much of

a problem as not knowing where one is or what one's doing.

Anyway, gotta love people who say those things, especially the ones

who act interested at first, like they understand, and then turn out

to have NO CLUE of even a shred of what we go through. Reminds me of

a few years ago when a neuro resident at the MDA clinic asked how

many absence seizures I had over the past month, and I said " About

100 per day, lasting from seconds to minutes each " . He said " Per

day? " and started paying more attention to me and the dx. Hopefully

he learned a bit about mito diseases that day...

Take care,

RH

>

> > After trying to explain it a bit exactly (I almost always have to

> > spell " mitochondrial encephalomyopathy, Complex I defect, MELAS

> > phenotype " , and explain each part of it), for medical

professionals I

> > default to " It's similar to diseases they test on the newborn

> > screening panel. I have adult-onset, which is usually less severe

> > than early onset. " What it conveys is that yes, it is serious,

and a

> > real illness.

>

> RH, I like your comparison to the newborn screening panel and will

remember

> that for future reference. CPT is on the newborn screening panel in

many

> states now. One other " insider " phrase I find that helps with

medical

> professionals is " inborn error in metabolism. " They always

recognize this

> general category of disease as both genetic and serious, and

usually the

> first follow-up question is, " What enzyme are you missing? " since

inborn

> errors in metabolism always involve deficient enzymes. In your

case, it

> would be " complex I. " My answer is a bit more complicated since

I'm missing

> multiple enzymes in several different metabolic cycles, which tends

to evoke

> the glazed eye syndrome again. Sigh.

>

> > I feel that my problem with discussing mito with medical

> > professionals is that I can't default to the " it's a problem with

> > energy creation in the cells " that I tell laypeople

>

> When you use this explanation, do people ever say, " Oh, so you're

just tired

> all the time? I'm tired too. " I've had this response enough times

that I've

> abandoned the cellular energy explanation. Generally I stick

with " metabolic

> disease " or " neuromuscular disease " or once in a while--for the

> exceptionally nosy--blow them away with the whole long title---which

> invariably results in a stunned silence and no further questions.

> Ahhhhhhhhhhhh. :-)

>

> Barbara

>

[Guest guest]

Hi Carol,

Do you know if they pay for they pay for the Epic brand?

Or are they just paying for one of the over the counter brands?

I didn't know that Medicaid was paying for CoQ10. This will help a lot of people

out since it is so expensive. I have a few friends who are on Medicaid and will

be happy to know this, unless of course I am the last person to know this.

Hehehehe!!!

Thanks

Ann-Marie

Re: response to complex I diagnosis

HI, MEDICAUD OF INSURANC EWILL PAY FOR Q-10 IF YOUR DOCTOR WILL

WRITE AN RX PERSCIRTION..GOOD LICK, CAROLE

[Guest guest]

As said, this may or may not be true. I know someone who has the Qgel

paid for under I believe durable medical. I have Tricare, very picky military

insurance. in 2001 I got a letter after an appeal from the head of Tricare

saying they would not pay for vitamin supplements (CoQ10) under any

circumstance--even medical necessity.

In 2003 I won approval for them to pay for Qgel based on it having orphan drug

designation and my families medical history of melas. They were paying 75% but

then last year they changed administrators and now I am fighting them. I have

had an appeal with them since last October. I gave them till mid December last

month to pay or will go to my congressman.

I have a temp job at a health insurance claims processor that processes for many

plans--Blue cross, Anthem & more. We process for providers all over the country

and the company that owns us (Wellpoint out of California) just merged with

Anthem. We actually became owned by Blue Cross of WI in I think 2001 or

something. The company is actually called Claim management service but I work

thru Services.

I do not work with the actual processing of the claims--just deal with the tax

id numbers of the providers. But I sit near the claims processers and hear them

dealing on the phone once in a while. I do not know any of them personally

enough to ask about orphan drug coverage and coq10 but I did ask one of them

last year.

She does not process claims herself I found out but she said she heard that if

you send in alot of paperwork supporting medical necessity that will help to get

something covered. Also, it takes about 3 weeks for the claim to go thru like

say American health Group and then get forwarded to us and then if the provider

tax id or address does not match our database it is delayed.

But if you do not hear anything within a month I would call to find out the

status of your claim as many, many claims get handled daily and it is easy for

one to get lost in the shuffle either by the US postal service or

electronically.

Janet Sample

Re: response to complex I diagnosis

--- CARCul2001@... wrote:

> HI, MEDICAUD OF INSURANC EWILL PAY FOR Q-10 IF

> YOUR DOCTOR WILL

> WRITE AN RX PERSCIRTION..GOOD LICK, CAROLE

This is not necessarily true. It varies by state and

can vary within a state by medicaid waiver. For

example, medicaid is not paying for our Carnitor or

CoQ10. I'm out of my carnitor and my son's almost out.

It costs $91/box and we use six boxes a month.

Mom to the two best kids in the world!

http://www.caringbridge.org/visit/thomasandkatie

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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.