A Colorado girl, Everly Green, has been left in a state of near total immobilization due to a rare genetic condition known as early infantile epileptic encephalopathy type 37, or FRRS1L. Until her second birthday, Everly appeared to be a typically developing child. However, her life dramatically altered after her diagnosis, which revealed a genetic mutation impacting key brain receptors essential for cell communication. This mutation leads to epilepsy, abnormal movements, developmental delay, and a profound loss of global function, which can be life-threatening.

Shortly after her diagnosis, Everly lost complete control over her head and body, and she can now only communicate using her eyes. This incredibly rare disease, colloquially called 'Frizzle,' affects only about 100 or more families worldwide, and historically, many have lost hope due to the lack of a cure. Her mother, Chrissy Green, recalled being told to simply "go home, love her, take care of her." However, Everly's family decided to take proactive steps, embarking on a mission to raise millions of dollars to fund the development of a treatment, after pharmaceutical companies deemed it too expensive to pursue.

Everly's parents initially noticed developmental delays around 18 months but believed she was catching up. She could crawl, play with toys, sit up, and even say a few words. However, after her second birthday, she experienced her first seizure, triggering a rapid loss of function. Within just six weeks, she was stripped of all mobility, and three months later, she lost the ability to speak and eat, necessitating a feeding tube. Now, at eight years old, Everly requires a wheelchair, a feeding tube, and constant supervision. She cannot hold up her head or move independently and experiences frequent seizures. To communicate, Everly utilizes a gaze machine computer system that tracks her eye movements, calibrating them to select words or phrases on a screen.

Despite her severe physical limitations, Everly's vibrant personality shines through. Her mother describes her as a "normal, silly, playful kid trapped in a functionless body," who loves to learn, enjoys books, crafts, dancing, and has many friends at school. Chrissy emphasizes that these children are "in there," longing to play like others but physically unable. The daily challenges for families, including the demanding 24-hour care from a nurse or family member and the emotional burden of "parent guilt," are immense, as parents cannot constantly move their child's hands and fingers for them.

Current treatments for FRRS1L patients are limited to "ineffective" seizure medications. Everly relies on carefully selected symptom treatments, including physical therapy and the Keto diet, as there are no known medications that can completely stop Frizzle-induced epilepsy or halt the rapid regression caused by the disease.

In 2021, Chrissy Green joined forces with other FRRS1L families globally to establish the Finding Hope for FRRS1L Foundation. This parent-led non-profit is dedicated to raising funds for a life-altering treatment for the tragic mutation. Collaborating with researchers and small-scale developers, the endeavor requires millions of dollars for discovery, testing, and administration of a cure. For academic institutions and large drug companies, this process could take years, and many rare diseases like Frizzle are not profitable for big pharma, leading to a lack of interest in developing treatments.

Green explained that parent organizations are stepping in to take control, moving much faster due to the urgent need felt by parents witnessing their children's daily struggles. The foundation outlines a four-step mission on its website. To date, they have raised $1.5 million, which has been allocated to initial research and pre-clinical work. In phases one and two in 2023, the foundation raised $400,000 for a round of gene therapy testing on mice, conducted with the assistance of a doctor at the University of Texas Southwestern. This experiment was inspired by a German scientist who had bred mice with the FRRS1L mutation and successfully administered gene therapy to treat their symptoms. Similar to that research, the foundation observed significant recovery and increased movement in the treated mice, providing immense hope for their children.

Gene therapy, as explained by the Cleveland Clinic, involves changing a "disease-causing" gene by delivering a replacement gene via a harmless virus. The Finding Hope for FRRS1L Foundation is pursuing gene replacement therapy as their primary treatment mechanism, believing that introducing functional copies of the FRRS1L gene into brain cells will rebuild receptors, restore cellular messaging, and enable patients to regain function. The foundation is currently focused on toxicology testing, which alone costs $1 million. Subsequent steps will require raising sufficient funds for manufacturing and clinical trials. Researcher Neil Hackett noted the challenge of finding specific expertise and securing massive funding. The foundation must also obtain FDA permission for manufacturing and selling the treatment, and then convince insurance companies to cover patient costs.

While Hackett suggested that families might eventually need to turn the drug over to a "commercial entity" that could profit from their research, Green asserts their commitment to maintaining control of the treatment. She states, "We're committed to making sure Frizzle treatment gets fully developed as a drug that can be accessible to all patients and doesn't get put on a shelf." This stance is informed by the hardships faced by other genetic disease groups whose treatments were acquired by companies, deemed unprofitable, and subsequently shelved, forcing these groups to fight to regain control. The patients waiting for treatment ultimately paid the price in such situations.

Currently at stage four of their fundraising goal, the Finding Hope for FRRS1L Foundation aims to raise $2 million by the spring to initiate treatment manufacturing. An additional $2 million in donations will then be directed towards clinical trials of the newly manufactured drug. The non-profit relies entirely on donations from supporters, loved ones, and generous companies. Their ambitious goal is to administer the first round of Frizzle patients with the treatment by September 2026. Despite the inherent risks, Green firmly believes that dedicating their time and resources to finding a cure is "the most loving thing" they can do for children affected by Frizzle. She emphasizes the devastating nature of Frizzle disease, but also the "so much hope and potential recovery" that treatment holds, and the strong support they have received from people excited to see this progress forward.