Marian, age 2
Los Angeles, CA
At nine months Marian wasn't sitting steadily or bearing weight on her legs, she saw a neurologist as "a precaution." Her symptoms were mild, but puzzling. She had low muscle tone, some trouble swallowing and was making progress but delayed with her gross motor skills. She was just a year old when her neurologist at Children's Hospital Los Angeles felt an enlarged spleen. After months of testing, and as a happy and thriving 18 month old, she was diagnosed with early symptoms of NPC. No cure. Fatal.
Marian receives the critical lifeline of IT cyclodextrin every two weeks under anesthesia through a spinal tap. Initially, Marian flew to Chicago for treatments, but now is able to receive them at Children's Hospital Los Angeles via a compassionate use protocol.
She is filled with bravery, strength, grace and laughter and makes us very proud. She loves music, dancing, coloring, and all things her big sister, Emily, age 4 does.