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Maddie Niles stumbled on an existing drug that changed her life forever. How many other rare disease treatments are sitting unused on the shelf at the local pharmacy?
Seventeen-year-old Maddie Niles has a rare metabolic disease with no name, no known cause, and — at least for most of her life — no clear treatment plan. By the time she was in second grade, she was dependent on a wheelchair and a central line that fed her fluids and nutrients.
For most of her childhood, a packed suitcase stood permanently at the ready for the inevitable and recurring hospitalizations. She attended school — when that was even possible — with a private nurse attendant or a service dog. #rarediseases #drugdevelopment #metabolichealth #kidneystone #webmd #shorts