saw geneticist today- found out about complex defects

[Guest guest]

Hi guys,

I am so exausted but I thought I would tell yall about my appt with dr.

greene (my metabolic geneticist) today and what she had to say about my muscle

biopsy results from Dr. Shoffner. As I had said when I first got the report, it

said I had a multi-complex defect but I didnt know which complexes. Well, now I

know- I have defects in I, III and IV and a possible defect in II. How they

determined this was that they tested complex I assay in 2 ways (n-decyl CoQ and

coQ1- dont know what this really means but they said it measured the flow of

electrons differently) and both of those were low levels the first being 12

when the mean is 106 and the second being 35 when the mean is 209. Then the

complex I+III was 42, when the mean is 262. Complex II+III was 171 when the mean

is

526. Then complex III alone was 580, mean is 1377. Then they did complex IV 2

ways, one was freeze and thaw which came back supposively higher than all the

rest (all the other ones I supposively was in the bottom 5% of what results

should be, this one was a bit higher at least- the bottom 5% of it is 589 and

lower, mine was 616, mean being 1151- still seems mine was low though) then the

other way w/ complex IV was called sonicated, dont know what that means but

it was 707 when the mean was 1583. I know alot of you dont know what alot of

this means- its confusing to me too but I thought that I would post the results

in case some of you wanted to know or could maybe give me some more imput on

what I should think of them. I guess the reasont they dont know if my complex

II is deficient is because there was no test specifically for it, just for it

and III and since I do have a defect in III I guess that could be the cause of

the low numbers in the II+III one. Argh, so confusing huh! Anyways, my dr did

say my main prob was in

complex I. I talked a long time with her and she did explain alot to my mom

and I. She is writing a letter to all of my drs about certain recommendations.

some of the recommendations she's including are a thorough PT evaluation with

possible mobility assistance such as a scooter, looking into getting a port

put in, going back to the audiologist to see if I need a hearing aid and to see

what other pain management options I have with this dx and also of course to

continue care with my other drs like my cardio, pulmo, gi, neuro, etc. She also

wants me to get my seizures and migraines more under control as she feels

they are possibly what are making my progression faster. She also finally got me

on carnitor liquid (was taking l-carnitine from puritine pride) and has me on

a higher dose (10cc twice a day) and upped my riboflavin and CoQ10. Right now

thats all she wants me on from the mito cocktail- she said might add Vitamin K

and E later and some B vitamins and few others, but just take it slowly with

them since I'm having so many issues with swallowing meds. She wants me to

stop taking baclofen as much as possible and see if there is anything other than

MSIR (morphine) for my pain. The other meds- mainly for my seizures and GI

issues, she said were ok. Anyways, it was a long appt and so much info- kinda

included even alot in here, sorry so much info. I also see Dr. Gropman next

thursday (shes another mito specialist but is a neuro-geneticist). She is mainly

for the neurological aspect of mito but might help me in getting a team together

to help (hopefully!). Anyways, finally got a fairly specific diagnosis, Dr.

Greene is also calling it just mitochondrial encephalomyopathy and not MELAS.

She said that the sequencing needs to come back before we call it something

more specific. Ok, I've gone on long enough- just glad to be able to vent and

whatnot all this here, dont know anyone else other than you guys that would

understand even remotely come close to understandign all this. thanx guys- dont

know what id do w/o yall. again, sorry so long- thanks for reading. hope yall

are

doing well.

take care,

Adrienne

[Guest guest]

Adrienne

I am really glad that you are getting answers and treatments. It has been a

long road. Each complex can affect those further on. I have 0 of complex I

which affects complex II. I have a low complex III which is thought to be a

primary one, but since doesn't have problems with III, it is

uncertain. Of course she has holes in her mito membranes and I don't. It

seems that those in the same family have testing which doesn't always agree.

Rest up!

laurie

> From: moonchild62579@...

> Reply-To:

> Date: Thu, 3 Jun 2004 18:42:03 EDT

> To:

> Subject: saw geneticist today- found out about complex defects

>

> Hi guys,

> I am so exausted but I thought I would tell yall about my appt with dr.

> greene (my metabolic geneticist) today and what she had to say about my muscle

> biopsy results from Dr. Shoffner. As I had said when I first got the report,

> it

> said I had a multi-complex defect but I didnt know which complexes. Well, now

> I

> know- I have defects in I, III and IV and a possible defect in II. How they

> determined this was that they tested complex I assay in 2 ways (n-decyl CoQ

> and

> coQ1- dont know what this really means but they said it measured the flow of

> electrons differently) and both of those were low levels the first being 12

> when the mean is 106 and the second being 35 when the mean is 209. Then the

> complex I+III was 42, when the mean is 262. Complex II+III was 171 when the

> mean is

> 526. Then complex III alone was 580, mean is 1377. Then they did complex IV 2

> ways, one was freeze and thaw which came back supposively higher than all the

> rest (all the other ones I supposively was in the bottom 5% of what results

> should be, this one was a bit higher at least- the bottom 5% of it is 589 and

> lower, mine was 616, mean being 1151- still seems mine was low though) then

> the

> other way w/ complex IV was called sonicated, dont know what that means but

> it was 707 when the mean was 1583. I know alot of you dont know what alot of

> this means- its confusing to me too but I thought that I would post the

> results

> in case some of you wanted to know or could maybe give me some more imput on

> what I should think of them. I guess the reasont they dont know if my complex

> II is deficient is because there was no test specifically for it, just for it

> and III and since I do have a defect in III I guess that could be the cause of

> the low numbers in the II+III one. Argh, so confusing huh! Anyways, my dr did

> say my main prob was in

> complex I. I talked a long time with her and she did explain alot to my mom

> and I. She is writing a letter to all of my drs about certain recommendations.

> some of the recommendations she's including are a thorough PT evaluation with

> possible mobility assistance such as a scooter, looking into getting a port

> put in, going back to the audiologist to see if I need a hearing aid and to

> see

> what other pain management options I have with this dx and also of course to

> continue care with my other drs like my cardio, pulmo, gi, neuro, etc. She

> also

> wants me to get my seizures and migraines more under control as she feels

> they are possibly what are making my progression faster. She also finally got

> me

> on carnitor liquid (was taking l-carnitine from puritine pride) and has me on

> a higher dose (10cc twice a day) and upped my riboflavin and CoQ10. Right now

> thats all she wants me on from the mito cocktail- she said might add Vitamin K

> and E later and some B vitamins and few others, but just take it slowly with

> them since I'm having so many issues with swallowing meds. She wants me to

> stop taking baclofen as much as possible and see if there is anything other

> than

> MSIR (morphine) for my pain. The other meds- mainly for my seizures and GI

> issues, she said were ok. Anyways, it was a long appt and so much info- kinda

> included even alot in here, sorry so much info. I also see Dr. Gropman next

> thursday (shes another mito specialist but is a neuro-geneticist). She is

> mainly

> for the neurological aspect of mito but might help me in getting a team

> together

> to help (hopefully!). Anyways, finally got a fairly specific diagnosis, Dr.

> Greene is also calling it just mitochondrial encephalomyopathy and not MELAS.

> She said that the sequencing needs to come back before we call it something

> more specific. Ok, I've gone on long enough- just glad to be able to vent and

> whatnot all this here, dont know anyone else other than you guys that would

> understand even remotely come close to understandign all this. thanx guys-

> dont

> know what id do w/o yall. again, sorry so long- thanks for reading. hope yall

> are

> doing well.

> take care,

> Adrienne

>

>

>

[Guest guest]

Hi Adrienne, Congratulations on getting some helpful answers,

lables and protocol, but sorry there are so many complexes out

of whack. You must be exhausted! Hope that protocol direction

will help give you some measure of relief with at least some of

your issues.

Please keep us posted on your Dr. Gropman appointment. I'm

especially interested because she said she would see me, but

I'm still unsure if that is the most appropriate route for me. I'm

leaning toward not., because I tend to think a metabolic

specialist might be of more help. Until I read your post I didn't

even know metabolic geneticists existed. Where is Dr. Greene

located and how hard is it to get in to see him/her?

Hope you can rest up tonight. Wishing you a deep and restful

sleep.

Best Wishes,

Anita

[Guest guest]

Glad you finally are getting some answers. Did you know that the Qgel comes

in a liquid? Might be some help with swallowing pills. Also, the liquid

carnitor is much better than those huge carnitor tablets.

Janet Sample

saw geneticist today- found out about complex defects

> Hi guys,

> I am so exausted but I thought I would tell yall about my appt with dr.

> greene (my metabolic geneticist) today and what she had to say about my

muscle

> biopsy results from Dr. Shoffner. As I had said when I first got the

report, it

> said I had a multi-complex defect but I didnt know which complexes. Well,

now I

> know- I have defects in I, III and IV and a possible defect in II. How

they

> determined this was that they tested complex I assay in 2 ways (n-decyl

CoQ and

> coQ1- dont know what this really means but they said it measured the flow

of

> electrons differently) and both of those were low levels the first being

12

> when the mean is 106 and the second being 35 when the mean is 209. Then

the

> complex I+III was 42, when the mean is 262. Complex II+III was 171 when

the mean is

> 526. Then complex III alone was 580, mean is 1377. Then they did complex

IV 2

> ways, one was freeze and thaw which came back supposively higher than all

the

> rest (all the other ones I supposively was in the bottom 5% of what

results

> should be, this one was a bit higher at least- the bottom 5% of it is 589

and

> lower, mine was 616, mean being 1151- still seems mine was low though)

then the

> other way w/ complex IV was called sonicated, dont know what that means

but

> it was 707 when the mean was 1583. I know alot of you dont know what alot

of

> this means- its confusing to me too but I thought that I would post the

results

> in case some of you wanted to know or could maybe give me some more imput

on

> what I should think of them. I guess the reasont they dont know if my

complex

> II is deficient is because there was no test specifically for it, just for

it

> and III and since I do have a defect in III I guess that could be the

cause of

> the low numbers in the II+III one. Argh, so confusing huh! Anyways, my dr

did

> say my main prob was in

> complex I. I talked a long time with her and she did explain alot to my

mom

> and I. She is writing a letter to all of my drs about certain

recommendations.

> some of the recommendations she's including are a thorough PT evaluation

with

> possible mobility assistance such as a scooter, looking into getting a

port

> put in, going back to the audiologist to see if I need a hearing aid and

to see

> what other pain management options I have with this dx and also of course

to

> continue care with my other drs like my cardio, pulmo, gi, neuro, etc. She

also

> wants me to get my seizures and migraines more under control as she feels

> they are possibly what are making my progression faster. She also finally

got me

> on carnitor liquid (was taking l-carnitine from puritine pride) and has me

on

> a higher dose (10cc twice a day) and upped my riboflavin and CoQ10. Right

now

> thats all she wants me on from the mito cocktail- she said might add

Vitamin K

> and E later and some B vitamins and few others, but just take it slowly

with

> them since I'm having so many issues with swallowing meds. She wants me to

> stop taking baclofen as much as possible and see if there is anything

other than

> MSIR (morphine) for my pain. The other meds- mainly for my seizures and GI

> issues, she said were ok. Anyways, it was a long appt and so much info-

kinda

> included even alot in here, sorry so much info. I also see Dr. Gropman

next

> thursday (shes another mito specialist but is a neuro-geneticist). She is

mainly

> for the neurological aspect of mito but might help me in getting a team

together

> to help (hopefully!). Anyways, finally got a fairly specific diagnosis,

Dr.

> Greene is also calling it just mitochondrial encephalomyopathy and not

MELAS.

> She said that the sequencing needs to come back before we call it

something

> more specific. Ok, I've gone on long enough- just glad to be able to vent

and

> whatnot all this here, dont know anyone else other than you guys that

would

> understand even remotely come close to understandign all this. thanx guys-

dont

> know what id do w/o yall. again, sorry so long- thanks for reading. hope

yall are

> doing well.

> take care,

> Adrienne

>

>

>

[Guest guest]

Adrienne, Thks so much for taking the time to post your results.

Very interesting and informative. I'm so glad you have found good

help. Time is one of the best gifts any doctor can give, and it

sounds like Dr. Greene was very generous on that score. (I have

heard great things about Dr. Greene from Dr. V.)

Take care,

Barbara