My son Joseph was diagnosed with Moebius Syndrome at two years of age. He had no medical problems until the summer of 1996 when he presented with urinary frequency. He went to the bathroom anywhere from 10-18 times a day and cut off midstream. Joseph also has nocturnal enuresis.
He was evaluated by Dr. Bauer at Children's Hospital and we were told that he has Ochoa Syndrome. This is a rare autosomal recessive disorder which includes the combination of unusual facial grimacing plus urologic abnormalities.
The disease is believed to be more common, but is under diagnosed since the inverted facial expression may not be identified as a characteristic of this particular bladder disorder.
-MaryBeth Coppinger, Dorchester, MA
