Re: Our diagnosis is here...

[Guest guest]

Are you going to do the "cocktail" at all?

Carol

thanks for responding...I was beginning to think the post didn't go through or something...

I hope you are feeling better and things at your house are on the upswing soon...

I was curious about why you asked this question...he said to start with coQ which we have been taking but not nearly what we could be and then also suggested l-carnitine...the also listed several other things that are standards but sounded like he didn't think they would help much...

I do think I want to go ahead and get a mito-doc...I am thinking of Korson...I plan to call them monday morning and see what is going on...we got the dx late in the day on Friday so I wasn't able to talk to any of my local docs...I see our neuro who first suggested mito on Tuesday with our son, Gaige so I plan to have a long talk with him then...

I almost called our metabolics doc today to get some clarity...but I am trying to wait til Monday like a good girl...

deb

[Guest guest]

Hi Deb,

My prayers are with you-both for joy in a confirmed diagnosis, but also for

the pain of the reality of the diagnosis.

Dena

[Guest guest]

Deb......

I don't know what to say....I am happy that you have an answer. Like you said, this is a club no one wants to be a member of!

Also, I agree wholeheartedly with your thoughts on this group. It is my extended family, my therapy sessions and an unbelievable source of knowledge and inspiration!

So....what is 's treatment protocol? Are you going to do the "cocktail" at all?

Carol

[Guest guest]

Deb,

At least now you know. The hardest part is NOT knowing. Believe me, I know how it feels to NOT know.

Hope you now can start a good treatment plan for him!

Take care,

Krystena s

Our diagnosis is here...

yep, it finally came...its the day you don't want to be right...the day I didn't want to have to say goodbye to you guys who have help my proverbial hand (via mouse) through this whole thing, only to find I now pass the initiation to be part of the club you guys truly belong to...I am doing okay...I thought I would cry but I haven't even though I was quite disappointed and shocked by one of the things they found...our official diagnosis is an "oxidative phosphorylation enzymology defect in Complexes 1 and IV and an abnormal movement of electrons through coenzyme Q10 (abnormal complext I+III and II+III assays)" ...he also mentioned COX quite a bit which i guess is the same as complex IVI really feel blessed to have found this group...I found you about six weeks after 's symptoms became obvious and there is no way we would have an answer just seven months later if you guys hadn't taught me everything...thanks a million...debPlease contact mito-owner with any problems or questions.

[Guest guest]

Deb,

How bitter/sweet this must be for you. With the dx you get answers, but the reality sinks, in and that part is very frightening. I hope you get all the support you deeserve at home from friends and family...and give your self a good pat on the back for fighting so hard for your child.

Love Robin

[Guest guest]

Deb

When we started on the cocktail...we started with Carnitor and B-1 first for two weeks. Then we added Alpha Lipoic Acid, Vits. E and C and CoQ10.

I have noticed a considerable improvement in both boys...particularly with energy levels and both started a growth spurt that continues.

I get everything, with the exception of the Carnitor, compounded at a pharmacy into liquid form so they take a teaspoon 3X a day. Much more manageable this way.

Most other mito parents/doctors feel the brand Carnitor is better than over the counter L-Carnitine because the Carnitor is a prescription and there is better quality control.

Fortunately for us, after a letter writing campaign with the insurance company and the doctor, we were able to get everything covered.

I think seeing Korson would be wonderful since Cohen is not taking new patients.

Good luck...I know it'll be a long weekend till you can call on Monday!

Carol

[Guest guest]

Deb,

I was sad to hear about your son's diagnosis being official, but glad

that now you can start to focus more on treatment instead of chasing the

diagnosis. So far I have been dragging my feet on getting a muscle

biopsy for Evan. He is not in crisis or regressing now. If he was

showing any declines I would race to get the biopsy done. He has

responded to the mito cocktail, cornstarch, and IV glutathione. We will

be adding Carnitor soon. Hopefully that will help with his muscle

issues.

Hopefully your son will have a good response to the cocktail. Are there

other treatments more specific to complex I and IV?

I will be praying for you this weekend as you wait to talk with 's

metabolic doc.

Hugs,

[Guest guest]

Deb,

I was sad to hear about your son's diagnosis being official, but glad

that now you can start to focus more on treatment instead of chasing the

diagnosis. So far I have been dragging my feet on getting a muscle

biopsy for Evan. He is not in crisis or regressing now. If he was

showing any declines I would race to get the biopsy done. He has

responded to the mito cocktail, cornstarch, and IV glutathione. We will

be adding Carnitor soon. Hopefully that will help with his muscle

issues.

Hopefully your son will have a good response to the cocktail. Are there

other treatments more specific to complex I and IV?

I will be praying for you this weekend as you wait to talk with 's

metabolic doc.

Hugs,

[Guest guest]

Deb,

So glad you got a DX. It made it easier for us to get some of the services and financial help we needed.

Your child is so lucky to have you!

Sending a BIG HUG!

Horsley

Re: Our diagnosis is here...

Deb,How bitter/sweet this must be for you. With the dx you get answers, but the reality sinks, in and that part is very frightening. I hope you get all the support you deeserve at home from friends and family...and give your self a good pat on the back for fighting so hard for your child.Love Robin Please contact mito-owner with any problems or questions.

[Guest guest]

Deb,

So glad you got a DX. It made it easier for us to get some of the services and financial help we needed.

Your child is so lucky to have you!

Sending a BIG HUG!

Horsley

Re: Our diagnosis is here...

Deb,How bitter/sweet this must be for you. With the dx you get answers, but the reality sinks, in and that part is very frightening. I hope you get all the support you deeserve at home from friends and family...and give your self a good pat on the back for fighting so hard for your child.Love Robin Please contact mito-owner with any problems or questions.

[Guest guest]

Deb,

So glad you got a DX. It made it easier for us to get some of the services and financial help we needed.

Your child is so lucky to have you!

Sending a BIG HUG!

Horsley

Re: Our diagnosis is here...

Deb,How bitter/sweet this must be for you. With the dx you get answers, but the reality sinks, in and that part is very frightening. I hope you get all the support you deeserve at home from friends and family...and give your self a good pat on the back for fighting so hard for your child.Love Robin Please contact mito-owner with any problems or questions.

[Guest guest]

Congrats on getting your diagnosis, Maggie's is also OXPHOS but,

she's got it in Complex 1 only.

Korsons E-Mail address is mkorson@... . If you want to push

up an appointment.

Congrats again and, welcome to the club.

Jeff

[Guest guest]

At least now you know. The hardest part is NOT knowing. Believe me, I know how it feels to NOT know.

yes you are right...the not knowing was about to kill me and I know we are quite fortunate to know just seven months after his onset of symptoms...now for the decisions...and also knowing that they don't know if these things really slow the diseae or not is tough too...

deb

[Guest guest]

At least now you know. The hardest part is NOT knowing. Believe me, I know how it feels to NOT know.

yes you are right...the not knowing was about to kill me and I know we are quite fortunate to know just seven months after his onset of symptoms...now for the decisions...and also knowing that they don't know if these things really slow the diseae or not is tough too...

deb

[Guest guest]

At least now you know. The hardest part is NOT knowing. Believe me, I know how it feels to NOT know.

yes you are right...the not knowing was about to kill me and I know we are quite fortunate to know just seven months after his onset of symptoms...now for the decisions...and also knowing that they don't know if these things really slow the diseae or not is tough too...

deb

[Guest guest]

I think seeing Korson would be wonderful since Cohen is not taking new patients

do you see Korson too?

deb

[Guest guest]

Hopefully your son will have a good response to the cocktail. Are there

other treatments more specific to complex I and IV?

thanks for responding allison...it is nice to finally know for sure altho I keep catching myself not remembering it is now fact...it was theory for so long and almost solely my theory...it is really fact...seems strange...it will be interesting to hear the docs who just 'knew' nothing was going to show up respond...a little vindication and validation is one of the few benefits here...

about your question above...I have no clue...and I really doubt my meta doc is going to know...i am pretty positive if I can get insurance/medicaid to pay for Korson then I am going there as soon as I can...

deb

[Guest guest]

Thoughts and prayers are with you Deb as you begin this new journey.

You'll go through lots of emotions for the next little while and we'll

be here to help you through them. Take care hun.

BIG hugs,

Kass

VisibleWorship@... wrote:

yep, it finally came...its the day you

don't want to be right...the day I

didn't want to have to say goodbye to you guys who have help my

proverbial

hand (via mouse) through this whole thing, only to find I now pass

the

initiation to be part of the club you guys truly belong to...I

am doing

okay...I thought I would cry but I haven't even though I was quite

disappointed and shocked by one of the things they found...

our official diagnosis is an "oxidative phosphorylation enzymology

defect in

Complexes 1 and IV and an abnormal movement of electrons through

coenzyme Q10

(abnormal complext I+III and II+III assays)" ...he also mentioned

COX quite a

bit which i guess is the same as complex IV

I really feel blessed to have found this group...I found you about

six weeks

after 's symptoms became obvious and there is no way we would

have an

answer just seven months later if you guys hadn't taught me everything...

thanks a million...

deb

Please contact mito-owner with any problems or questions.

[Guest guest]

Thoughts and prayers are with you Deb as you begin this new journey.

You'll go through lots of emotions for the next little while and we'll

be here to help you through them. Take care hun.

BIG hugs,

Kass

VisibleWorship@... wrote:

yep, it finally came...its the day you

don't want to be right...the day I

didn't want to have to say goodbye to you guys who have help my

proverbial

hand (via mouse) through this whole thing, only to find I now pass

the

initiation to be part of the club you guys truly belong to...I

am doing

okay...I thought I would cry but I haven't even though I was quite

disappointed and shocked by one of the things they found...

our official diagnosis is an "oxidative phosphorylation enzymology

defect in

Complexes 1 and IV and an abnormal movement of electrons through

coenzyme Q10

(abnormal complext I+III and II+III assays)" ...he also mentioned

COX quite a

bit which i guess is the same as complex IV

I really feel blessed to have found this group...I found you about

six weeks

after 's symptoms became obvious and there is no way we would

have an

answer just seven months later if you guys hadn't taught me everything...

thanks a million...

deb

Please contact mito-owner with any problems or questions.

[Guest guest]

Thoughts and prayers are with you Deb as you begin this new journey.

You'll go through lots of emotions for the next little while and we'll

be here to help you through them. Take care hun.

BIG hugs,

Kass

VisibleWorship@... wrote:

yep, it finally came...its the day you

don't want to be right...the day I

didn't want to have to say goodbye to you guys who have help my

proverbial

hand (via mouse) through this whole thing, only to find I now pass

the

initiation to be part of the club you guys truly belong to...I

am doing

okay...I thought I would cry but I haven't even though I was quite

disappointed and shocked by one of the things they found...

our official diagnosis is an "oxidative phosphorylation enzymology

defect in

Complexes 1 and IV and an abnormal movement of electrons through

coenzyme Q10

(abnormal complext I+III and II+III assays)" ...he also mentioned

COX quite a

bit which i guess is the same as complex IV

I really feel blessed to have found this group...I found you about

six weeks

after 's symptoms became obvious and there is no way we would

have an

answer just seven months later if you guys hadn't taught me everything...

thanks a million...

deb

Please contact mito-owner with any problems or questions.

[Guest guest]

Deb....

No, we are staying with our reg. MDA doc at A.I.duPont Hospital in Wilmington, DE. She is seeing other recently diagnosed mito patients and is eager and willing to learn. She consults with Dr. Kelley re: treatment. I'm hopeful next year to get her to the conference in Pittsburgh.

I have heard very good things about Korson, but Boston is kind of far for you.

Does anyone have experience with Childrens Hospital in D.C.? I know the mito guy from Philly went there....his name is Gerry Berry, M.D. Supposedly he is very good.

Carol

[Guest guest]

Deb....

No, we are staying with our reg. MDA doc at A.I.duPont Hospital in Wilmington, DE. She is seeing other recently diagnosed mito patients and is eager and willing to learn. She consults with Dr. Kelley re: treatment. I'm hopeful next year to get her to the conference in Pittsburgh.

I have heard very good things about Korson, but Boston is kind of far for you.

Does anyone have experience with Childrens Hospital in D.C.? I know the mito guy from Philly went there....his name is Gerry Berry, M.D. Supposedly he is very good.

Carol

[Guest guest]

Deb....

No, we are staying with our reg. MDA doc at A.I.duPont Hospital in Wilmington, DE. She is seeing other recently diagnosed mito patients and is eager and willing to learn. She consults with Dr. Kelley re: treatment. I'm hopeful next year to get her to the conference in Pittsburgh.

I have heard very good things about Korson, but Boston is kind of far for you.

Does anyone have experience with Childrens Hospital in D.C.? I know the mito guy from Philly went there....his name is Gerry Berry, M.D. Supposedly he is very good.

Carol

[Guest guest]

Is the abnormal movement of electrons through CoQ based on the low complex 1

+3 and 2+3? was Complex 3 by itself normal?

Just wondering if he elaborated on the coQ thing. My child has similar

results (diagnosed complex 1 and 4 defect , low combos of the others and yet

a complex 3 that was above 5% by itself).

I'm sorry for the diagnosis , though i know there is a certain comfort in

having answers as well. the range of emotions after the report comes can be

staggering. thinking of you!

anne

----- Original Message ----- the

> Complexes 1 and IV and an abnormal movement of electrons through coenzyme

Q10

> (abnormal complext I+III and II+III assays) " ...he also mentioned COX

quite a

> bit which i guess is the same as complex IV

>

> I really feel blessed to have found this group...I found you about six

weeks

> after 's symptoms became obvious and there is no way we would have

an

> answer just seven months later if you guys hadn't taught me everything...

>

> thanks a million...

> deb

>

>

> Please contact mito-owner with any problems or questions.

>

>