Happy New Year to everyone!  We rang in the new year at midnight by following Cody around the house - trying to get him to sleep!  Not too glamorous, but that's okay.  We look forward to a brand new year with lots of new, fresh hope.

We had our big meeting with Cody's neurologist on Wednesday.  Bless his heart, he talked to us for 2 hours and answered every one of my 50 (count 'em, 50!) questions.  I had them all written down and prioritized.  Don and I ran through them together on the way to the appt. to make sure we had every base covered.  I had someone at home with Casey, and someone go with us to tend to Cody so we could concentrate. 

So here's a re-cap of the big stuff we learned for those who are interested.  It's probably boring to many, but here goes:

Cody's defect (complex 1 & 3) seems to be from Don and I both posessing recessive genes for this disease.  They will put Cody's DNA through further gene testing to try to isolate the exact genetic origin so that we can know as much as possible about Casey.  It would seem Casey it out of the woods, but his children could be affected.  Chances are Casey's kids would be fine, we're told. 

This disease is considered life-threatening.  Ten to fifty percent of children with mito disease die before they reach their teens.  But many of those children wind up passing away in infancy so the stats aren't quite as depressing as they sound.  Of course our very first question was about Cody's mortality - and there is no answer.  Our Dr. said that when people do die of mito disease it is most often from a virus.  We found that a shock as we thought it would be organ failure that would be most daunting.  Turns out, the biggest danger is when there's a cold, flu, etc...and it is usually tough for these kids to kick because they don't have the energy to fight illness very well.  Then if another virus compounds the one they already have (because one takes so long to get over)...they tend to spiral down.  And pneumonia often sets in and that is the biggest threat to their lives. 

Cody hasn't gained weight in 2 years which is an issue.  He will have to have 2 surgeries in the gastro area to do biopsies and check his organs to make sure there are no defects in his lower intenstines and colon.  His many gastro issues and severe gastro pain really need to be attended to.  Most kids with mito disease also have huge gastro issues.

Cody's PET scan has always shown bi-temporal hypometabolism - and our Dr. says many kids with mito disease have this abnormality of metabolism because their brains don't get enough energy to run properly - so the brain slows down in some places (hypo-metabolizing glucose.)

IF a cure was found, Cody wouldn't suddenly "be normal."  But the Dr. said most likely he's begin to progress more rapidly than he has been.  Mito disease was only named 20 years ago - and it is very young in terms of research and funding for research.  That is very daunting.

The VNS has never been found to work in mito patients - still we keep our fingers crossed. 

Cody's greatest enemies are stress and illness.  Those are the greatest energy-depleters. 

Lamictal is the only drug that's proven to be a support to kids with mito disease.  So for now we'll leave him on lamictal, reduce his topamax, and increase his clobazam (which is the only drug, in my opinion, that's doing anything.)

Two new epileptic drugs are going to be available in Jan/Feb.  One is Rufinamide and the other is Lacosamide (spelling may be wrong.)  Rufinamide only takes 14 days to become effective (or not.)  We will try both. 

Cody will stay on COQ10 and we are adding Creatine as well.  There is no treatment for mito disease - only supplements to help boost energy production. 

Nutritionally, the Dr. recommends high complex carbs - they give the body the most useable energy with regard to mitochondria.

And that's really the big stuff.  I know, boring for anyone who isn't directly involved. 

I always feel empowered by knowledge - so it was a good meeting for me and Don in that way.  I really hate hearing how suseptible his is to illness getting worse because you just can't control viruses and germs.  But at least I feel I can wrap my brain around the whole idea of mitochondrial disease now...whereas before it was quite overwhelming.  Ultimately, we just need to continue to support Cody therapeutically, nutritionally, and keep pursuing physical problems as they arise like gastro issues.  Complex 3 usually involves the heart so we will keep a close watch on that.  So far all his organ function looks good - but that is always at risk because his mitochondria just don't deliver enough energy to his organs for them to function optimally. 

So that's it for now.  We are still grappling with this diagnosis and, as always, we are praying for that special miracle that will heal him once and for all. 

with love,

Shawna