Re: News on Jake, anyone have expertise

March 25, 2004

Hi the mitochondrial disease foundation has an informative website and

link to parent group. UMDF.org is the website. Dr. Bruce Cohen from

Cleveland Clinic is the physician associated with this group. Good luck.

On Thursday, March 25, 2004, at 03:52 PM, Barbara Swoyer wrote:

>

March 25, 2004

Thanks everyone...I've got some good bedtime reading to do! Yes, I am a little

surprised...wondering how we missed it in the local lab when they analyzed the

muscle tissue...2 years ago. I sort of dismissed it after that, because all the

neurotransmitter stuff was going on. We saw a mito speciliast in December,

which my neuro recommended we do, because Jake was displaying alternating sides

of weakness (symptom of mito). The specialist at the time was very doubtful

that Jake had a mito disorder, but suggested we take the muscle tissue and ship

it to Cleveland for further testing. He's the guy who called me today w/

results. I'll see him Monday for a better explanation and plan. Jake turned 8

in November. I don't think it's going to be a positive in the sense that we can

significantly help Jake...there is no cure for mito disease....but I'm hoping to

increase his energy and strengthen him and decrease seizures....those things

alone would be a plus. So....I'll keep you all posted.

Thanks for all the websites gals.

Barb

Re: News on Jake, anyone have expertise

Barbara - I can't believe this! How old is Jake? and you are just now

finding out. This worries me.... my docs have said, no, no, no to

mitochondrial disorders with , so we've never been tested. Now, I'm

wondering if we should be. I don't know much, other than this complex 3

is one of 4 in the electron transport chain, which is located in the

membrane of the mitochondria. It is a key component of metabolism,

passing electrons along the chain and then on to oxygen to form water,

all the while this passing of electrons helps to generate tons of ATP

(main molecule we need for energy). Looking in my biochem book..........

it is made of iron and sulfur among other things. It is pretty complex.

It is associated with a complex called cytocrome C which passes the

electrons from complex 3 to complex 4. You may be able to do a search on

the " Q cycle " as this cycle is specific to complex 3. Their is a

mitochondrial disorder foundation (that may be the name of it) that is a

non profit, that may be able to get some info into your hands.

Like I said, I don't know much, but if you run across something that you

think I may be able to look up for you in a textbook (I've got several on

metabolism and biochem), yell and I'll look it up for you.

Keep us updated.

Kathy - 's mom

On Thu, 25 Mar 2004 18:52:49 -0500 " Barbara Swoyer "

writes:

> Hi all,

> Just found out today that Jake's " re-tested' muscle biopsy came back

> positive for mitochondrial disorder, involving Complex 3. Has to do

> with the enzymes that affect energy. Came as a surprise to all. We

> tested in a local lab 2 years ago and it was normal, this was

> retested twice at Cleveland Clinic and voila....came back w/ 2

> positives. Going to CH on Monday to get to the bottom of it all,

> we're looking at mito DNA analysis to see if we can isolate a

> mutation, plus other organ-related tests. No cure, treatment is

> mostly involving vitamins....(which he doesn't do well with for some

> unknown reason). So...I'm looking to do a bit of research before

> Monday. If anyone can point me to some good websites, esp.

> involving the Complex 3 thing....that would be great.

> Always something new to keep me on my toes....

> Barb Swoyer, Jake's mom

>

March 25, 2004