The other day I received the results from Josie's biopsy. Everything looked normal with one exception. The sample showed enlarged mitochondria. The neurologist didn't really know what this meant, other than it lead us away from the diagnosis he originally thought which is a myasthenic syndrome.
I did not take this news well. In fact, I took this news with a ton of wine, potatoes and bacon. I do not recommend this combination, it sucks the next day.
The next step was to see a new geneticist and thankfully we already had an appointment with him for today. The geneticist said it was not mitochondrial and basically I spent 2 days freaking out and drinking for no reason. He believes we are dealing with an unknown type of myasthenic syndrome.
Basically, all the results did was show that we don't know the type of myasthenic syndrome and scared the shit out of me. I am not really sure what comes next. The neurologist was ready to pass us off to a different neurologist specializing in mitochondrial disorders, but now apparently that doesn't need to happen. I think it is that the neurologist wants to get rid of me because I refer to him as Dr. Randy and not by his last name. What can I say? I am a 10 year old boy that giggles every time I say it.
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