Your child has an abnormality of the brain that is incompatible with life. Imagine the devastation they have felt. Joubert Syndrome is a rare, genetic condition characterized by absence or malformation of the part of the brain that controls coordination and balance. Infants display low muscle tone and irregular breathing patterns.
Development is delayed and speech is difficult or absent.
In January 1992, three mothers decided to tackle the impossible. With very little medical information available at the time, and with only eight known families of children with Joubert Syndrome, these mothers set out to motivate the medical community to find answers. Now nine years later, we have located 300 families worldwide. We have pooled more information than was ever previously compiled, and proved that while our children face many significant challenges, they have defied bleak predictions. Our children are no longer being written off as having a terminal condition.