In many ways, James Burr is a typical 4-year-old.
“He loves being outside, building train sets and garbage trucks, garbage trucks, garbage trucks,” says his mother, Kathryn Burr. “He loves going to the beach, and all of the garbage people there know who he is and come to see him.”
But James is facing extraordinary health challenges. He has Batten disease, a rare brain condition that is terminal.
Burr and her husband, Cory, first knew something was wrong when James was 2 years old and started having seizures. At first, he was diagnosed with epilepsy, but genetic testing revealed it was Batten disease. The first neurologist who examined James, near their home outside Charlotte, didn’t have many answers.
“It’s so rare that it’s not known to a lot of doctors,” Burr says. “The doctor could only say, ‘I’m so sorry, but there might be a hospital in Tennessee that can help. Good luck.’”
After talking to a second neurologist, the Burrs connected with Yael Shiloh-Malawsky, MD, a UNC Health pediatric neurologist and director of the UNC Batten Disease Center of Excellence. Within weeks, James had started treatment at UNC Health.
“When I found out that Chapel Hill had what we needed, it was the biggest weight off our shoulders,” Burr says. “I would have moved if I had to for James’s care, but to only have to drive two-and-a-half hours for treatment—I can’t tell you how grateful I am for that.”
What is Batten Disease?
Batten disease, more formally known as neuronal ceroid lipofuscinosis, is a neurodegenerative genetic disorder that affects 1 in 100,000 live births worldwide.
There are 13 subtypes of Batten disease, which vary based on the gene that’s affected. Depending on the type, symptoms can start to appear in infancy through adulthood.
James has CLN2, which affects production of an enzyme needed for cells to function properly.
“As a result of the low enzyme, there’s injury to the cells in the brain and the retinas, causing blindness, seizures and neurological decline,” Dr. Shiloh-Malawsky says.
With this type of Batten disease, seizures eventually become more difficult to control, and children lose their ability to control their movements, walk and feed themselves. Life expectancy is shortened; typically, patients survive only to the second decade of life.
Seizures with mild language loss or delay are commonly the first symptoms for this type of Batten disease.
“It’s really important for a young child who has a seizure to get genetic testing,” Dr. Shiloh-Malawsky says. “This type of Batten disease is the only one that has an FDA-approved treatment—enzyme replacement—and it’s important to start as soon as possible.”
Seeing an ophthalmologist (a specialist in eye diseases) familiar with the disease soon after diagnosis is also important.
“Batten disease causes a retinal dystrophy and destroys the photoreceptors, the part of the eye that receives light signals,” says Marlee Silverstein, MD, UNC Health pediatric ophthalmologist. “Without treatment, blindness is nearly inevitable, but the timing of the onset is different for different patients.”
Very shortly after his diagnosis, James had a rapid decline in his vision.
“You wouldn’t typically see this kind of vision loss with his type of the disease until age 7 or 8, but Batten disease affects every child differently,” Burr says. “Dr. Shiloh-Malawsky said, ‘Let’s go, let’s get him started and do whatever we can to prolong what he has.’ She is a fierce warrior.”
A Treatment Plan for James
In April 2024, James had a reservoir surgically implanted, with tubing placed into his brain ventricles, so that he can receive bimonthly infusions of a drug called cerliponase alfa (Brineura) directly into his cerebrospinal fluid, which surrounds the brain and spinal cord.
“This treatment replaces the enzyme,” Dr. Shiloh-Malawsky says. “It’s not a cure, but it slows down the neurological decline.”
Burr sees the difference.
“We wouldn’t have had the year we’ve had with him without this treatment,” she says. “He went from having multiple seizures a day to having them months apart. This treatment gives us our little boy.”
James also receives injections of cerliponase alfa directly into his eyes—while under general anesthesia—an emerging treatment not yet approved by the FDA.
“The infusion into the brain ventricles doesn’t access the eye, but injecting it directly into the eye can stabilize the retina if we intervene early enough,” says Dr. Silverstein. “We are the third site in the country to offer this treatment, and we worked together really quickly to offer it for James.”
For James, the goal of this treatment is to prolong his existing vision, but for other patients, it could potentially prevent blindness.
“It’s a huge deal that our team has gotten so used to supporting the process of these injections,” Dr. Silverstein says. “Other sites are reaching out to us for guidance because we have a streamlined process, so James is helping kids around the country, as well as other patients at UNC.”
James’s injections require regular travel from Charlotte to Chapel Hill, as well as long days in the hospital, but Burr says his team makes it easier.
“Hands down, we have the best nurses and doctors, and they treat James so amazingly well,” Burr says. “I have not seen that kind of care anywhere else. They know he rubs a pillowcase for comfort, so they always have one laid out for him. They give him orange Band-Aids because they remember that it’s his favorite color. They’re friends and family at this point.”
Enjoying Every Garbage Truck, Train and Trip to the Beach
James balances his treatments with his favorite things: playing with trucks, riding trains and trips to the beach. In May 2025, through the Make-A-Wish Foundation, James and his parents traveled to Texas to visit the headquarters of the truck manufacturer Peterbilt, where James got to play on a garbage truck and help on the production line.
Along with his infusions, James does physical therapy, occupational therapy, speech therapy and equine therapy with horses. Though James can speak a few words, he is mostly nonverbal. He started attending a specialty preschool program this fall, where Burr says he is thriving.
“He’s gone to a church preschool, mainly for socialization, where my mother and I have stayed in the room in case there are any seizures,” Burr says. “With this new school, we’ll stay on campus, but we won’t be in the room with him. I’m excited for him to be able to grow a small pair of wings and experience a little bit on his own.”
Burr has found it helpful to share James’s experiences on a blog and welcomes conversations with people who see the family in public and ask questions.
“We truly believe knowledge is power, and even one more person aware of this devastating disease can help make a difference,” Burr says.
The family also enjoys connecting with local families—the UNC Batten Disease Center of Excellence hosted their first regional conference in September 2025—as well as families across the country through the Batten Disease Support, Research and Advocacy Foundation. At national family conferences, Burr has spoken with scientists about gene therapy research being done in other countries; Burr and Drs. Shiloh-Malawsky and Silverstein are hopeful about the promise that gene therapy could have for Batten disease patients.
For now, James’s infusions and injections are maintaining his function, giving him more time for trucks and trains.
“He brings joy to everyone, wherever he goes,” Burr says. “For other parents in a similar situation, I’d say, fight it with everything you’ve got and enjoy every moment with your child.”
If you’re concerned about your child’s symptoms, talk to their doctor. If you need a doctor, find one near you.