Pediatric Neurogenetics

     On November 11th, we had the pleasure of meeting with Dr. R. Stephen Amato (Genetisist) and Vinodh Narayanan (Neurologist) practicing out of the Children's Health Center at St. Joseph's Hospital.  They reviewed Logan's case, looking at every test and work-up he has had since birth.  They evaluated him and spent about 1 1/2 hours with us, asking questions and observing how Logan interacted and played with us and them.  When all was said and done, they agreed with the basic diagnosis that Logan does indeed, have microcephaly but they were not sure of the cause.
     The team recommended that we run two more tests.  One is a Chromosomal Microarray that will look at Logan's genetic make-up and identify any abnormalities with his genes that could be contributing or causing his slow head growth.  This test is very new and very expensive, about $1500.00 to run.
     The second test would be a CAT scan.  Sometimes, when mom is pregnant, a particular virus will infect the growing fetus and attack the developing brain tissue.  Mom rarely knows she is sick or simply has a mild cold.  The virus leaves small calcium deposits in the brain tissue of the baby that can be seen in the CAT scan.  They do not show up well in an MRI. Often, this same virus will also damage the retina which can be seen by an ophthalmologist.  Luckily, the CAT scan is a much easier test and Logan will not need to be put under general anesthesia again for it.
     While both of these tests will give a definitive diagnosis, there is no real treatment for either one.  We were glad to hear that we are "doing everything right" and Logan did gain another pound and added 1/2 centimeter to his head circumference.