Information About Mitochondrial Disease

Since I seem to have some "down time", I have added information in the side bars about Logen's "main" disease- Mitochondrial Disease. I plan on posting about What Mito is, etc soon. Just wanted to point out the links on the side.

Logen's April 2010 St Louis Appointments

We are Cleveland bound, so I thought now would be a good time to update on yesterday's appointments. We were at the hospital ALL DAY LONG! By the end of it, we were all extremely cranky and no fun to be around.

Epilepsy Appt:

Needs to do another 2-3 night stay in the hospital for a video EEG. His last one (was in Sept 2009 & was only 30 mins) didn't show seizure activity, just a lot of "spikes"/abnormal brain activity. His activity occured mostly in the right side of the brain and all over (multifocal). His doc is thinking he may have a condition were his seizures occur mainly at night (or when he is sleeping). We know his brain activity is much different when he is sleeping from his hospital stay in Dec '08. I cannot remember what they called it then, it'd have to go sift through papers. So, the decision was to stay on his current seizure treatment plan. (Topamax twice daily, Klonopin PRN, and Diastat PRN)

Neuro Appt:

1) We have no more information on Logen's "disease" than we did on our last trip- besides knowing what it's not. His mitochondria do not function normally, the area's we know for sure aren't normal are "Complex 1 & Complex 3". On every genetic test we do with the Mitochondria (ex. mtDNA), everything comes back normal. We know he has "type 2 muscle atrophy". We do not know what has caused any of this (hince negative mito genetic tests). Any positive test could possibly give us things like a prognosis (what every parent wants). Advances in Mito Medicine are incessantly being made, so we are very hopeful.

2) Many medicinal changes:

A) Moving to the "liposomal Ubiquinol form" of his CoQ10 (in the Mito cocktail). It's suppose to absorb into the body better and be a more "active form".

B) Start a Pyridoxal Phosphate. It's a derivative of B6. However, this has proven to help with seizures. And, it's "natural"- so why not try it?

C) Try Papaya Enzymes for drooling. Since Logen's swallowing function seems to be declining, we want to limit the possibility of his aspirating his own secretions. Dr B wants us to try a natural supplement before we look into Rx meds.

D) Start probiotics (Dr B recommends "Gut Buddies" from Epic4Health, they are the company that makes the FDA approved Mito Supplements) & ground flax seed.

3) Switch Logen to dairy free supplements. Oh, this will be the most difficult change. Parker is already on a dairy free diet (for the most part), so knowing what to cook, etc isn't going to be to bad. Mr Logen is a dairy freak! He is a lover of yogurt, pudding, ice cream, etc. All of which can be bought dairy free (thankfully!). It's just going to be training him he can't have those things, or they need to be ingested in very small amounts.

Extra Stuff : We did a hip x-ray, labs to check for B-12 deficiency, serum ferritin, CBC with diff, etc, had another EKG to check for conduction defects (worried about his blue toes/hands)

Mitochondrial Disease

Ok... We got some of the results from Atlanta back this week!

It's very complex. I'm in the midst of doing a million things & can't quite explain it all now.

Logen has a Mitochondrial Disease. He also has type 2 muscle fiber atrophy. He will start a mitochondrial "cocktail" as soon as we can find a pharamacy to compound it. There are some financial concerns, the docs say we will have to fight insurance (the doc's office is very willing to write them a letter and do what they can though) and medicaid won't cover this. As far as a specific Mito Disease, we are still waiting on all of those to come in. It could be many months. And, we may never know from what they said. We just know his mitochondria do not function normally. He's "highly probable" to have complex 1 and complex 3- and that's about as much info as we have. It could take nearly 2 years for the meds to kick in b/c they have to get into the muscle. And, there is a chance they won't do anything. As far as prognosis, we don't have one right now.

We are waiting for a big list of precautions from the doc, but were given a few to start with. Things like he can't have a certain type of anesthesia, he can't fast for long periods, no over heating, can't be around people with the flu (b/c it could take him down harder and longer), he may need to be hospitalized for even minor infections b/c of hydration and monitoring.

Please continue to pray for us. Thanks.