After many months of waiting, we thought today would be the day we would find out which gene mutation Jagger has. We are pretty sure he has Leigh's disease as clinically he has all the classic symptoms. He definitely has a mito disease that is for sure.
Finding the mutation is likely not going to matter for Jagger as there really is no cure for any mito disease and we focus on treating his symptoms as they present. However, I want to know the mutation to know what the chance of recurrence is in future children. Without a known mutation they cannot test Sebastien or I.
Of course, the test results came back normal. They will rerun some of them but all genes they tested and suspected which could cause his disease are all normal. Soooooo frustrating. We were warned that this might happen but nevertheless were hoping at least this one time the odds are in our favor and they find something. Still have to discuss how to proceed and how badly we want to know as everything has a price.
In the meantime we will try our best to keep Jaggy happy and pain free and we continue to shower him with 1001 kisses every day.