Appoinment Updates- Neurology

We saw our neurologist last week as well. He is looking at the same tests as genetics so we didnt get too much new info from him either. He did show us Anthony's MRI and explain the abnormalities. Since I didn't have a "normal" brain MRI to look at and compare it to, I really didn't have a great idea of what I was looking at but he should us the area of white matter that was underdeveloped and told us that it shoud be "darker by now." He also told us that an MRI can measure certain protiens in the brain using some kind of sound waves and that Anthony's level of one particular protien was abnormally high. This has pointed them to one particular genetic disease that they are now using cells they grew from his skin biopsy to test for. The thing is...he really doesn't completely fit the profile of this disease.

The neurologist told us if he has this disease it is "very bad." He said that it is a progressive disease (gets worse over time). Anthony, on the other hand, is continuing to make gains and learn new skills. I asked what the next step will be if this tests comes back negative and he said he doesnt know...they have pretty much tesed him for everything they think it could be. He said theere are plenty of other things to test for but he doesn;t want to run batteries of tests for a "shot in the dark." He wants to be strategic...which I agree with and appreciate.

On a positive note, there was a discussion months back about putting Anthony on medication for his tightness and some startling that he experiences (which has gotten much better by the way.) Becuase Anthony has such a blooming and active personality the neurologist has decided that he does not want to consider medicating him at this point and in any way hinder that personality. He also told us that the medication they were considering was colonipan...thank GOD that discussion is off the table!!!!