Bella, 11, sits in her chair, her left hand tapping a yellow joystick switch. She is animated, her blue eyes sparkling, her wavy hair bouncing as she moves her head. Yesterday, she went back to school for the first time, after five months of lockdown. She has a lot to say — talking about music, her brother’s baseball practice, her red chair at school. After her speech therapy over Zoom, Bella tells her mom, “I feel is happy.”
Bella has a condition known as GM3 Sythase Deficiency, a disorder that causes her body to be unable to make the enzyme GM3, which is important for neurological development. As a result, Bella has epilepsy, hypotonia (or low muscle tone), cortical visual impairment (visual impairment caused by the brain), and feeding intolerance, which makes her dependent on IV nutrition. She uses a speech-generating device to communicate, her word selection driven by the