Wednesday, March 24, 2010


At 4.5 months Anthony had an MRI, EEG and mirco-array analysis (genetic testing.) The EEG was, as our neurologist put it "not totally normal", though not definatively abnormal or anything to require treatment. His MRI at that time was normal, with the exception of some slight "ventrical dysmorphism", which we were told was not particularly concerning or did not lead them in any direction diagnostically. The mirco-array analysis was also normal...and that tested for something like 70ish different genetic and chromosonal abnormalities. People always have a hard time with these tests coming back normal...they either say "what do you mean they don't know what it is?" or they say "well that's great! everything has come back normal! He will be fine!" I brought this up with our neurologist to see if he had any tips for how to deal with this. He literally told us to tell people when it comes to the brain they, as doctors, are "stupid"! They have barely just scratched the surface of knowing all there is to know about the brain. And the same goes for genetics, they have come a long way but they are NOT EVEN CLOSE to knowing alot. He said there are probably millions of genetic disorders that are yet to be discovered. They are still trying to figure out the cause of Anthony's issues (Dr. Duplessis refers to him as a "diagnostic dillema") but when his tests come back normal its not because he is fine and will "grow out" of anything. I mean, he will "BE FINE" because no matter what he is loved, and happy, and amazing but he will struggle through challeges for the long haul.

He most recently had a round of testing that did give the doctors some additional info. His MRI on February 25th came back abnormal. Anthony's white brain matter is underdevolped. This is a clue that has now led to more tests. At the time of the MRI, they took a skin biopsy. They are now growing cells from that biopsy and testing for some things that may explain this MRI result. The neurologist did caution us that these tests may come back negative which would bring us back to square one but that results take about 4-6 weeks so only time will tell.

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