Maria is a lovely little girl who loves the color pink and is obsessed with Dora, the Explorer! Notice her hair cut? She has started using a computer at therapy and likes to make music with it. She may not be able to speak, but she does try to sing along! Her therapists hope that it may lead to a breakthrough one day that would surprise everyone!
Maria was diagnosed with Joubert Syndrome at birth. Joubert Syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination. The most common features of Joubert syndrome in infants include abnormally rapid breathing (hyperpnea), decreased muscle tone (hypotonia), jerky eye movements (oculomotor apraxia), developmental delay, and the inability to coordinate voluntary muscle movements (ataxia).
Maria is wheelchair bound but can stand on her own for a few moments. Her physical therapist has requested a gait trainer for her so that she may take the next step toward independence – walking. A gait trainer would not only strengthen her muscles, but give her the ability to explore a little, just like her idol, Dora!