Girl Trapped: Rare Gene Leaves Child Immobile

Everly Green, an eight-year-old girl from Colorado, faces a profound challenge due to FRRS1L, a rare genetic disorder that has rendered her almost entirely immobile. This condition, colloquially termed 'Frizzle disease,' results from a genetic mutation impacting brain cell communication, leading to severe epilepsy and loss of global function. Despite its devastating effects, affecting over 100 families worldwide, there is currently no known cure.

Everly's journey began shortly after her second birthday when she experienced her first seizure and rapidly lost all mobility and speech. Now, she relies on a wheelchair, a feeding tube, and a gaze-tracking system for communication, yet her spirit remains bright, engaging with reading, crafts, and learning. Her family, determined to provide her with the best quality of life, has co-founded the Finding Hope for FRRS1L Foundation.

This parent-led non-profit is actively raising funds to develop a gene therapy treatment, a process estimated to cost $10 million. The foundation has already raised $1.5 million, enabling pre-clinical gene therapy testing on mice, which showed promising recovery and increased movement. They are currently focused on toxicology testing, with a goal to begin manufacturing by the spring and aim to dose the first patients by September 2026, embodying a passionate fight against this rare and debilitating disease.