Tuesday, June 19, 2012
I got a call from Ryder's neurologist tonight. You'll have to bare with me as I'm still trying to process and understand the information. Results came back from Ryder, Les & I's genetic sequencing test. 2 mutations were found on one of Ryder's chromosomes. He has a recessive, progressive, mitochondrial disease that affects the POLG. His body seems to not be able to break down protein. There is no cure. We can try a vitamin cocktail to slow down the disease progress, but this latest hospitalization seems to be a very large set back & regression. They found a mutation on one of my chromosomes and a different mutation on Les' chromosome which both transferred to a chromosome in Ryder. This test is not absolute. It isn't confirmed by a certified lab yet. It will be sent to Baylor for certification. There could be other mutations as well. From looking up POLG diseases, it looks like MiNGIE is a possibility (this is what I suspected). I am confused tonight and trying to wrap my mind around all of this. I have known this information in my heart, but it has taken my breath away to hear a confirmation. I wanted answers & needed to hear it--but my baby will not get better and doesn't have a long life ahead of him. I'm going to cry tonight and be ready to go to the hospital tomorrow and give that precious boy the best possible days he has on Earth.