Charlie is a friendly, inquisitive and fun loving 8 year old boy. He loves live music of all types, watching all sports and amusement parks. He is in second grade in a multiple disability classroom and continues to make progress. He also receives speech OT and PT. Outside of school he recently learned to swim and does OT at a barn where he gets to ride the ponies.

Charlie has received multiple diagnosis over his life linked to his DLG4 truncation including hypotonia, ADHD, accommodative estropia, and mixed expressive receptive communication disorder. His fine motor skills are immature due to the underdeveloped muscles in his hands It is often difficult to determine how to set goals for Charlie as he often needs multiple supports to accomplish. There is also a significant difference between his efforts on preferred vs non preferred tasks. He will struggle to hold a pencil, write letters but will pick up a guitar and strum like a champ. It gives me hope that with the right amount of interest and significant repetition he can accomplish things. I’m hoping this foundation can help find medicines that stimulate or mimic the protein need.