Mitochondrial What?!

In eliminating causes for Noah's delays, our Neurologist, Dr. Valero, has told us the next step is testing for mitochondrial diseases. I remembered the term from biology and that it had to do with cells but that's all I knew. So of course, I researched it to find out exactly WHAT we are looking for. The mitochondria are the powerhouse of the cells...(ring a bell?) Mitochondria convert oxygen and food into energy. When there is a upset in this process, there is an energy crisis (lack of energy in the child/fatique), and the cells cannot function normally. As a result, the incompletely burned food might accumulate as poison inside the body. Depending on which cells of the body are affected, you can have problems with muscle weakness/dev. delay, heart, lung, gastrointestinal, vision, & hearing problems, etc etc.... a very long list. Symptoms can vary from mild to life threatening. And this is genetic so, if Noah were to have it, there's a very high chance all of our children would have it.

So we got a call from Dr. Valero's nurse informing us that Noah's blood work came back negative for mito diseases (YAY!!!), however, we still have to proceed with the muscle biopsy (BOO!!!). I requested for Dr. V to call me b/c I had been under the impression the biopsy was no longer necessary... he explained to me that the blood test only lets us know about SOME mito diseases and the muscle biopsy will let us know about the rest. Noah's biopsy is scheduled for June 4 at Children's Hospital. It's a day surgery; they'll put Noah to sleep and will make an incision in his thigh and remove a portion of his muscle. They will then run tests on the muscle and actually plan on freezing some of it for any future testing that they might need to run. The incision should be pretty small (maybe an inch or two long?) and the muscle will be sore for several days to a week. We have an appointment next week with the doctor that will do the biopsy so I should know more then.

I HATE that Noah has to go through yet another surgery, even though it is minor. I was really hoping that we would be able to avoid this, but I trust that Dr. Valero is making the right decisions for Noah. I honestly feel like he doesn't have a mito disease. When I've researched it online, it talks about kids with this will regress in their development and Noah has never taken steps backwards in development. Also, he doesn't have any of the symptoms except for delays... no problems with vision, hearing, heart, lungs, etc. However, even though I feel like the outcome will be fine, it still makes me slightly nervous because there's always the possibility. But I just trust that it's all in God's hands and he will continue to take care of Noah. Please pray for Noah's biopsy results as well as the actual surgery.