Everly Green’s parents were initially puzzled by the need for genetic testing recommended by her doctors. At 18 months, Everly was lagging behind on her developmental milestones, but her progress was steady, leading them to believe it would continue.
However, when Everly turned 2, she began experiencing seizures, followed by a regression in her skills. Three months later, she required a feeding tube. Now, at the age of 8, she is only able to move her eyes, communicating through a screen.
Living in Fort Collins, Everly has a rare mutation in the FRRS1L gene, affecting communication between cells in her brain. Her family, along with other children with the same condition, have collaborated with researchers and small-scale manufacturers to develop a treatment that could potentially restore some of her mobility. The challenge lies in raising $4 million for the development and testing of the treatment.
Despite her limitations, Everly comprehends her surroundings and enjoys school, where she is part of a mainstream classroom with support and has close friends. Chrissy Green, Everly’s mother, mentioned that Everly yearns to do things she is unable to, like holding toys on her own or going on family trips with her brothers.
“These kids have the desire to play like others, but they are hindered by their inability to move,” Green expressed.
Green serves as co-president of the foundation Finding Hope for FRRS1L, which is gathering funds for the next phase of drug development. According to the foundation’s website, children with the FRRS1L gene disorder are “trapped in a body they can’t move, however still retain high cognitive function, understanding, communication, and awareness.”
With only a few dozen children worldwide diagnosed with the same FRRS1L mutation, there is minimal interest from pharmaceutical companies. Families are left to fund research independently and, if successful, persuade the U.S. Food and Drug Administration of the treatment’s safety and efficacy for market approval.
Gene therapy, involving the replacement of a faulty gene with a healthy one, presents a new approach to treating various conditions. While it has shown promise in certain cases, there are associated risks, including potential fatal outcomes in some patients.
