Update on Sam...

This gets complicated, so consider yourselves warned...

We got the results of Sam's muscle biopsy on the 19th. It took so long because the dr. was waiting for her next visit as it really is complicated and this is what the results looked like to me... asl;dkfjoiewatowitwo4uoiwfsldknfsdnv. Not even close to english... So, here's the scoop... You eat something, it goes to your stomach, it goes to your GI tract and is then absorbed into your cells. From there, it is absorbed into your mitochondria, which have five components that each make ATP, which is stored energy. Sam's #2 component is only making 12% (out of 100) of the energy it should. Her 2 -3 connection is only making 18% and her #4 is making 25%. The rest are in the 50-70% range. No wonder the girls is tired all the time! So she isn't making the stored energy that she needs. She gets it all from the food that she eats and doesn't have reserves. Now that we know the specific parts that aren't working, they have prescribed for her a vitamin cocktail that will help improve the specific components. They told us over and over again that the vitamins aren't a cure, they just treat the symptoms. We should see a marked improvement with her tiredness, her running into walls (she can't see well when she's "low energy"), she hopefully will be able to handle sickness better and she should show improvement with her coordination and things like that. They advised us to give her Gatorade instead of water and just that alone has increased her energy. It's hard to see her as not normal a lot of the time, but watching her actually have energy to run around was amazing to see. I'm excited to see what the actual vitamins will do. We have had to find a compounding pharmacy to make the vitamins for her and she should start them on Monday. I'll keep you posted... Here are some scary statistics - mitochondrial disease has the same mortality rate as childhood cancer. 50% of kids diagnosed before the age of 5 will die before they are 20. Same is mild right now and we are so blessed to already have a diagnosis. Most kids aren't diagnosed until 4-5 and they are very sick. I don't know if the vitamins will help her to be healthy longer, but they sure can't hurt! Her specialist said that we can't predict what her outcome will be or what her lifespan will be. There are a lot of factors (such as illness or growth) that can effect how her mitochondria function. So we will just wait and watch give her Gatorade (the other girls are NOT happy about drinking water these days...). Sam is the sweetest thing and we are so blessed that she is with us. We are not afraid or even stressed out right now. She's doing great and so are we!

Sorry this was so long. I did warn you that it was complicated! If you have any questions, feel free to ask. We aren't sensitive at all. There is a lot we don't know or understand yet, but I will do the best I can to answer...