update on Jake/mito

[Guest guest]

Hi all,

Just a quick update. Saw the mito guy today. He thinks 50/50 we will be

able to confirm a diagnosis (or not!). We drew blood and took urine and are

testing a number of things, most importantly DNA mito analysis. This will

either give us a defined mutation and a definite diagnosis, or will be

inconclusive and then essentially we'll know that he has a mito abnormality

but with no reason as to why. We'll know the results within a month or so.

So, nothing to do but wait it out.

Thanks everyone for your messages, now I just need patience. Unfortunately,

the outcome if he tests positive is not too good....in essence it would mean

a progressive disease w/ no cure and very few if any viable treatment

options....and a slow progression leading to the ultimate failure of

multiple organs. If he tests negative, we're back to square one with yet

another puzzling piece of info (just like our neurotransmitter results) -

and the muscle tissue abnormality probably being secondary to a different

primary disease...likely a degenerative brain disease of some type -

undefined.

Meanwhile, what can you do.....keep reading and praying and trying to figure

it all out, just like all of us do.

Barb Swoyer, Jake's mom