On the medical side of Tetrasomy 8p (Genetic Disorder)


Josephine took a trip to the neurologist on July 26.  The neurologist wanted to monitor her brain activity for a 48 hour period.  The process of attaching the 26 electrodes was less than wonderful, both for Josephine and Mom and Dad.

But after the procedure, Josephine became our little cosmonaut (see pictures above)!

No results yet from that test.  Next up is the brain MRI, which is scheduled for August 6.  This is another big test to give us some big answers – does Josephine have a corpus callosum (arched bridge of nervous tissue that connects the two cerebral hemispheres, allowing communication between the right and left sides of the brain) and does she have hydrocephalus  (water on the brain)?

Josephine has been experiencing, what I think to be petit mal seizures – vacant stares for a few seconds and head twitching in repetition of 2-4 movements.

This MRI will give us a better idea of her prognosis.  Every test leads to a new piece of the puzzle.  We may not always get the answers we want to hear, but it’s better to deal with what’s coming head on.  Denial is not our friend at this point.