As for Logan, he is doing well. He is healthy and continues to grow. He has been in the pool, to the park, to a play, and most recently his cousins ball game. His wheelchair has put on some miles this summer!
We have started him on a new vitamin/supplement therapy. The Mayo neurologist and Logan's primary neurologist have recommended this therapy. They cited a recent study that used biotin and thiamine and showed improved outcomes in patients with similar symptoms and MRI findings as Logan. He is on a large dose of biotin, 40mg three times per day. This means we crush eight tablets three times a day, put in water, and give through his feeding tube. We then say a prayer that it does not clog. He only gets one tab of thiamine three times a day. I am not sure what we should be looking for. The study I read talked about this therapy decreasing or preventing crises. I would like the therapy to lessen his daily issues with movements, vision, and overall development. Is it too much to ask, just a little miracle, please?
So into the unknown we go! If anyone has any knowledge of a regimen like this and can tell me where to get a larger dose per tab or a liquid form of the medicine please leave a comment.
I have also received a letter from his Mayo Clinic neurologist summing up our visit. She stated in her note that she believes he has a probable mitochondrial disorder. When his Exome sequencing is back in October, we will then pursue more mitochondrial testing. I say this without knowing the results of his Exome sequencing as I feel it will not be the answer to our prayers. With the information we were given during our Mayo visit I can't see why this isn't mitochondrial.
He has a documented mitochondrial mutation that sits very close to another mitochondrial disease called Leigh disease and his symptoms are classic for this disease except for his MRI findings which are not classic for Leigh disease. It makes sense that he shares a lot of similarities with this disease if he truly has a mitochondrial defect where the testing has identified.
My gut has always pulled me toward mito as the culprit of Logan's medical and developmental problems. Now we wait and see what our current testing shows. With Logan, the hunt for a diagnosis has proven to be a wild goose chase. Hopefully we will catch the goose or maybe a golden egg soon!
Bubba took a snooze on the couch while I wrote this post. Seems that the all star game put him to sleep!
Bubba and Daddy
Keeping cool in the pool. Logan seems to enjoy the water, his movements slow down!
Brother and sister watching cartoons. Too cute!
Aunt Michele and Bubba hanging at the ball game.
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