mtDNA Variant-- HUH?

If there is one "truth" to mitochondrial disease, in my opinion, it's that things are always complicated. Ordinary colds could cause extraordinary complications; "simple" surgeries could become life-threatening; testing is abundant and often leads to even more questions; results from testing are always difficult to explain and understand- nothing is easy in the mito world.

With that said, I am taking on the complicated task to explain what we learned at Areli's appointment today. As you know we are trying to find the exact mutated gene that is the cause of her mito. It is proved she has Complex 3 Deficiency (the third level in the process to turn food into energy only works at 17% in her).  However, the four genes that make up the 3rd complex were all normal so we tested genes with known isolated liver involvement, outside of the complex 3. So far all of those have come back normal as well.

Still following me?

A test did come back though that might be leading us somewhere. There are two different types of DNA that your mitochondria are made from. One is called mtDNA (mitochondrial DNA). This comes directly from the mother, it is in her eggs before they are even fertilized. The other is nDNA (nuclear DNA). This is recessive from both the mother and the father's DNA. Both could be the cause for the mutation which lead to mitochondrial disease. Well, they found mtDNA variant at a low heteroplasmy level in Areli. What the heck does that mean?? This means they found abnormal mtDNA in her blood, but there was more normal mtDNA than abnormal. This could be the start to finding out where her disease originated from. It could be directly from my blood line, or it could be that when her DNA was splitting/replicating, it split wrong and the abnormal DNA continued to replicate overloading high energy organs (liver) with "bad" mitochondria's 

Still there?

Okay, so the question is what do we do from here? Her team of doctors are meeting next week to discuss the next steps for Areli. More than likely thoough, I will be getting my blood tested to look for mtDNA variants and we will do, yet another, liver biopsy. Because that is the only way to truly know if the mtDNA is abnormal in her liver as well.

Hello..? Hello..? Anyone out there..?? 

If you read through this whole thing, you rock!!! And don't worry if you don't quite get what's going on, I still have trouble figuring all this stuff out, after all it is mito and it is complicated! 
As a treat for getting through all this mummble jummble, here are some pictures! Hope you enjoy!

From our appointment with neurology today.

Love,

Mama Linnea