Applying the brakes to a child’s rare disease
New medication, new type of infusion help 6-year-old boy
BY AMBER SMITH
A 6-year-old Syracuse boy receives infusions of a new medication directly into his brain every other week at the pediatric infusion center, on the third floor of the Upstate Cancer Center.
Julius McClary Jr. – everyone knows him as Juju – has Batten disease, one of a group of rare genetic disorders known as neuronal ceroid lipofuscinoses. His mother, Cristina Rosa, says infusions of the new medication Brineura (cerliponase alfa) have made a tremendous difference.
Soon after his diagnosis, Juju underwent surgery to have a reservoir implanted in his brain, similar to the way some cancer patients have ports implanted in advance of treatment. The medication has to be infused directly into the fluid of the brain. A small patch of his curly hair was cut, and a tattoo on his scalp marks where to access the intraventricular device in his brain.
Each infusion takes about five hours, says Rosa. Her son has been having them every two weeks since May 2021, when they would travel to the University of Rochester and stay overnight in the hospital. She was grateful when Upstate began offering this type of infusion
Nurse manager Molly Napier says the Upstate team underwent training and collaborated with caregivers at Nationwide Children’s Hospital in Columbus, Ohio, and Golisano Children’s Hospital in Rochester to transition Juju to Upstate’s infusion center. At the time Juju’s infusions were started, Brineura was being administered only at 75 centers in the United States. Juju was the first Syracuse patient. He prefers to sit in his stroller during the infusion.
Juju was 2 when he began speech therapy for a speech delay. He was 3 when he had his first seizure, at day care. “I knew something was wrong with my son,” Rosa says. Juju was crawling, but not walking, and his balance was off. She pushed for him to see a neurologist who would help them explore genetic testing.
Pediatric neurologist Ai Sakonju, MD, is his Batten infusion team director, with nurse practitioners Stacy Shourt and Meghan Claver and other nurses, including Lauren Wilbur. His primary neurologist is Arayamparambil Anilkumar, MD, and Nienke Dosa, MD, is his developmental pediatrician.
Testing revealed the rare genetic disorder of the nervous system. Children with Batten disease may experience loss of vision, seizures, cognitive difficulties, trouble speaking and problems with coordination, balance and movement. Originally it was believed to be one disease, but experts have discovered more than 100 variants.
Like others with the disease, Juju’s body produces enzymes but
not an adequate supply, Anilkumar explains. He says the breakthrough came when researchers developed Brineura, an enzyme replacement therapy.
“The problem is, you cannot put an enzyme into the blood. It doesn’t really work that way,” he says. That is why the medication must be infused directly into the brain.
Brineura is meant to slow the loss of the ability to walk that some pediatric patients experience. BioMarin, the maker of Brineura, estimates 20 children born in the United States each year are affected by this rare, progressive disorder.
“You cannot put the clock back. Whatever damage has happened, you cannot reverse,” says the neurologist. “What you can do is prevent the accelerated loss of brain cells. So you are putting a brake on the progression of the disease.”
Anilkumar says Brineura is helping Juju. He still has his vision, and his seizures are under control.
Rosa is impressed with her son.
“Juju is so strong and resilient. His progress, it just amazes me,” she says. “He’s walking. Now he can walk with assistance. He used to not be able to crawl with a steady balance. Now he’s crawling everywhere.”
He feeds himself, using utensils. He continues to work on speech. Upstate physical therapist Nicole Ramos is helping him get stronger. He started kindergarten this past fall.
“He just makes me so proud. His improvement makes me so happy. He’s got such a big smile. He’s such a happy kid,” Rosa says.
“This was not Juju at the beginning of the diagnosis, so the enzymes are definitely, definitely helping.”
This article appears in the spring 2023 issue of Upstate Health magazine.
One of Juju’s caregivers is pediatric nurse Lauren Wilbur.