Some slight delays and an inward turning eye were the initial clues that Chrissy Green and her husband noticed when their young daughter, Everly, was just one year old. What resulted was a full genetic scan followed by a devastating diagnosis—a genetic disorder referred to as FRRS1L, or Frizzle.
A genetic disorder that results from a mutation and loss of function of the FRRS1L gene, Frizzle Disorder causes the messages in the brain to not get through from one cell to another. The resulting disorder renders impacted children non-mobile and non-verbal, with very limited control of their bodies. They are unable to chew or swallow, hold their head up, sit up, stand or walk, hold things with their hands, and are completely dependent on an adult for all movements, nutrition, and care.
Children with Frizzle are often born healthy and then begin exhibiting developmental delays. Once they turn two, they start having seizures that cause regression and rapid loss of function and abilities. The disorder was only recently discovered in 2016, so as doctors relayed what little information they had to the Greens in conjunction with their own limited research, Chrissy distinctly remembers thinking this couldn’t be happening. “I thought no way is this happening to our daughter. But then right on the money, when she turned two years old she had her first two seizures and overnight lost all her abilities. It was so fast. She couldn't hold her head up, sit up, she couldn’t swallow or control her body. A key aspect of her was just gone.”
Lost in a blur of trying to keep Everly alive with seizure medications and feeding tubes, Chrissy recounts, “We were just shocked. Regression is such a loss when it takes away speech, mobility, and expressions. It was like a death.” Not only did it feel like the death of part of their daughter, but of their life that was no longer. Also parents to sons, Colton, 8 and Ryle, 3, they were doing everything they could to keep Everly’s regression under control as well as keep life as normal as possible for their boys. And while children with Frizzle are never fully stable and no known drugs are able to stop or control their seizures, they’ve been able to provide nutrition to Everly through a feeding tube, use a ventilator to support her lung health, and suctioning to keep her airway clear. She also uses an eye-gaze communication device through which she is able to communicate via held gaze.
“The only part of her body that she can still control are her eyes. So now she can talk to us through a computer and show comprehension. The minute we showed her the device, she understood and immediately started using it. It’s also why this disorder is so devastating. These kids are cognitively aware, they are inside, just trapped in their bodies.”
After having been told by many doctors that there’s nothing that will help, they dug deep into their faith in God to accept her condition and what their life now looked like. They made a decision to choose joy and love. And then out of the blue Chrissy got a phone call.
A top gene therapy researcher named Dr. Berge A. Minassian wanted to talk to Chrissy and other Frizzle moms. Chrissy connected with two other Frizzle moms scattered throughout the globe and got on the phone with him. He told them that there was new research out of Germany in which they were able to model the Frizzle disorder in mice and that they had tested gene replacement therapy on the mice that showed promising results.
“He told us that he strongly believed that a gene replacement therapy for Frizzle could work,” Chrissy recounts. “So we went from being told that it's impossible to all of a sudden there's a chance gene therapy can work. Not merely a drug to treat symptoms, but instead a fix to Frizzle.”
They immediately started Finding Hope for Frizzle, a Colorado registered 501(c)(3) nonprofit, to raise awareness and help fund a cure for FRRS1L. Friends and family helped fund their first $400K which was needed to test FRRS1L mice with gene therapy treatment in a lab in the U.S. After two years of work in the lab, results showed that gene replacement therapy worked to bring the brains and bodies of FRRS1L bred mice back to function. It was life-changing news and proved that treatment is possible to cure Frizzle.
And while the hardest part of the work was done in the lab, the most expensive but most rewarding parts of the process remain—funding the treatment. In order to keep the project moving forward, the next step in fundraising is $1.1 million by December 31 to fund the completion of the preclinical work and toxicology test. Albeit, fundraising is highlighted by a constant state of urgency. Chrissy explains, “If we don’t have the money, we can’t move forward and every minute without treatment is a threat to the lives of Frizzle children.”
Every donation toward the December 31 deadline goes directly toward the treatment of Frizzle children and helps keep them racing ahead to the ultimate goal of this life-changing and transformative treatment that brings their brains and bodies back to function. Chrissy and the other Frizzle moms running the organization do it all as volunteers to ensure that every dollar donated is going to the treatment development process.
As Dr. Minassian is quoted, “These are transformative treatments. You’re basically changing in a fundamental way what will happen to these children. Hope is within reach.”
If you’d like to make a donation and make treatment a reality for Everly and other sick FRRS1L children, visit www.frrs1l.org.
“These are transformative treatments. You’re basically changing in a fundamental way what will happen to these children. Hope is within reach.”