A young girl from Colorado has become a prisoner in her own body after being struck by an exceptionally rare genetic disorder, leaving her almost completely paralysed.
A Childhood Stolen by a Genetic Mutation
Until she turned two, Everly Green seemed like any other healthy toddler. She could crawl, play with her toys, sit up, and even speak a few words. However, her world was shattered when she was diagnosed with early infantile epileptic encephalopathy type 37, known as FRRS1L or 'Frizzle' disease.
This devastating condition is caused by a genetic mutation that disrupts key receptors in the brain, preventing cells from communicating properly. The result is severe epilepsy, abnormal movements, profound developmental delay, and a catastrophic loss of function that is often life-threatening.
For Everly, the decline was rapid. Just six weeks after her first seizure at age two, she had lost all mobility. Three months later, she could no longer speak or eat and required a feeding tube. Now aged eight, she needs a wheelchair, constant supervision, and suffers frequent seizures. Her only way to communicate is with her eyes, using a gaze-tracking computer system.
Families Forced to Fund Their Own Cure
'Frizzle' disease is so rare it affects only around 100 families worldwide. With no cure available and pharmaceutical companies deeming drug development for such a small patient group unprofitable, families have been left with little hope. Everly's mother, Chrissy Green, was initially told to simply 'go home, love her, take care of her.'
Refusing to accept this, Everly's family and others across the globe took matters into their own hands. In 2021, they co-founded the Finding Hope for FRRS1L Foundation, a parent-led non-profit dedicated to raising the millions needed to develop a treatment.
They are focusing on gene replacement therapy, a process that delivers a healthy copy of the FRRS1L gene into brain cells via a harmless virus. Early testing on mice bred with the mutation has shown major recovery and increased movement, providing a beacon of hope.
However, the path is long and expensive. Researcher Neil Hackett explained that developing a treatment requires specific expertise and massive funding of nearly $10 million. The foundation has so far raised $1.5 million, enabling initial research and pre-clinical work. They now need $4 million to begin manufacturing the treatment, aiming to start by spring, followed by $2 million for clinical trials.
The Race Against Time for a 'Normal' Life
For Chrissy Green, her daughter is a normal, silly, playful eight-year-old trapped inside a motionless body. 'These kids are in there, they want to play like other kids, they just can't move,' she told the Denver Post.
Everly requires 24-hour care, which places an immense strain on the family. Green speaks of 'parent guilt,' knowing her daughter loves activities but being unable to provide constant, hands-on interaction.
The foundation's ultimate goal is to dose the first Frizzle patients by September 2026. They are determined to maintain control of the treatment to ensure it becomes accessible to all patients and isn't shelved by a commercial entity for lack of profit.
'We're committed to making sure Frizzle treatment gets fully developed,' Green stated. 'Spending our time and resources to find a cure is the most loving thing we can do for these kids.'
