The life of chef Aaron Juvera took a heartstopping turn in October. His 4-year-old daughter Charli was diagnosed with a genetic disorder so rare that only 125-plus cases have been documented in scientific journals.
The issues that gave Juvera and his wife Stevi Ashcraft concern — Charli’s clumsiness, stutter, vision loss and delay in learning to walk — turned out to be symptoms of CLN6 Batten disease, a neurodegenerative disorder for which there is no cure.
“She is currently the youngest known child with CLN6 Batten disease,” said Juvera, the chef de cuisine at Southerleigh Fine Food & Brewery. “While she is still minimally affected, time is not on our side. This disease progresses quickly. Every day matters. We’re doing everything we can to raise awareness and support efforts to find a cure for Charli and other children like her.”
The diagnosis fueled a mission for hope. Within months, Charli’s parents discovered a drug, Miglustat, that slows the disease’s progression.
The drug, considered investigational therapy, costs $36,000 per month, and, fortunately, is covered by insurance. The drug has stabilized Charli’s symptoms and helped improve her motor skills.
More hope lies ahead. The Charlotte and Gwenyth Gray Foundation to Cure Batten Disease is raising money for a gene therapy trial. “The goal of this therapy is to stop the progression of the disease, potentially curing Charli and other children like her around the world,” Juvera said.
To support the foundation, Juvera and Ashcraft are holding a barbecue plate sale on Saturday from 10 a.m. until 2 p.m. at Raymond Russell Park, Pavilion 2. Plates are $14.64 each. Tickets can be purchased through Eventbrite.
An online auction, which began on May 12 and ends at noon on Thursday, May 22, features gift cards to local restaurants, hotels and entertainment, to support The Charlotte and Gwenyth Gray Foundation. A direct gift to the foundation will support the gene therapy trial, which will cost more than $4 million.
The culinary community has rallied behind Charli and her parents. Chefs Jeff Balfour (Southerleigh), Steven McHugh (Cured), Jennifer Dobbertin (Best Quality Daughter), Geronimo Lopez (Supper) and John and Elise Russ (Clementine) and others have either supported a GoFundMe campaign or the online auction.
“Sysco donated $500 of food for the plate sale,” Juvera said. “Many other businesses have helped with donations toward the auction.”
Charli has a beautiful countenance and a big smile framed by blonde pigtails. She carries much promise.
“Charli is a bright, sweet and sassy little girl with so much potential,” Juvera said. “But she didn’t walk until very late — around 16- to 18-months old. It’s part of what made the journey difficult. She was never putting two words together to describe anything, like ‘light blue,’ until recently after we put her on the medication.”
The Charlotte and Gwenyth Gray Foundation aims to launch the gene therapy trial in late 2025 or early 2026 at Children’s Hospital of Orange County in California. Named after sisters Charlotte and Gwenyth Gray who were diagnosed with Batten disease in 2015 (Charlotte died in 2024), the foundation funded an initial trial in 2016.
According to the foundation, that trial involved a one-time injection into the spinal canal of 15 children and showed encouraging results. The new trial will include an increased dosage of medication.
“The treatment slowed progression of the disease but for those who were further along, it didn’t reverse symptoms ,” said Kristen Gray, the foundation’s director and mother of Charlotte and Gwenyth. “I believe much of that was due to the dose (but) with this new dose escalation protocol, we should be able to achieve higher efficacy.”
There are 13 variants of Batten disease. Two of the most common variants are CLN3, CLN1 and CLN2. Charli has one of the rarest variants, CLN6, a disorder that affects the nervous system. It is known as childhood dementia.
Over time, children like Charli with CLN6 lose the ability to walk, stand or sit without assistance. Their intellectual function declines. Most do not survive beyond adolescence.
“Because it’s such a rare disease, kids with Batten disease don’t get a lot of representation when it comes to studies or therapies or trials,” Juvera said. “It takes grassroots effort to raise money and apply for grants.”
Ashcraft added: “Gene therapy is the best shot my kid and kids with CLN6 have with a true cure or something to stabilize the disease. These children are spread all over the world.”
For now, Charli’s progress is impressing her doctors.
“We just did a six-month follow up since she was diagnosed and they were blown away,” Ashcraft said. “Charli hasn’t lost anything. She’s stabilized. We are in uncharted territory.
“Not every kid gets this medication. It gives us hope, frankly. And makes us want to fight to get more time with her and to let her have a childhood.”
