Results

We got news that the results of the muscle biopsy came back late last week. On Tuesday Dr. Lins~ Shaun's pediatrician, called us to share some of them with us. It showed that although his enzyme levels were good (CoQ10) and Respiratory Chain Defects (RCD) were not detected, his body is not creating the mitochondria as it should. This is called Mitochondrial DNA Depletion Syndrome (mtDNA DS). His levels should have been around 2000 and Shaun had 943. They don't know what is causing this and want to get some more testing done called exome testing. We have been referred to TGEN who is doing research in rare childhood genetic diseases to do these tests. It is just a blood test requiring 2 viles of blood, so it shouldn't be very invasive. It will not be for a cure but to understand the gene sequencing better and try to find a way to slow the progression down. Shaun has also been put on a modified mitochondrial cocktail  CoQ10 100mG, B-Complex 50 mG, and Alpha-Lipolic Acid 100mG. The other one we are starting is Carnitine 100mG. These are all taken 2 times a day and is a high level to try and help his body out. Pray for him, that his body will produce the mitochondria that it needs to survive, the progression to slow down, he is comfortable, and that our family will keep making precious memories.