Brody Battles On Against Rare Neurological Disease
The happy innocence of 4-year-old Brody Koslowski stirs your soul. His adorable smile is infectious. He has a thing for new toys, dinosaurs and splashing around in the water. In many ways, he's just a normal kid.
Aside from a noticeable speech delay, Brody otherwise didn't show any unusual behavior or health problems throughout his first 3½ years. In January 2019, he was playing outside in the snow with his mom, Molly. She will never forget the moment when, while pulling Brody on a sled, his little head started shaking and jerking inexplicably. He became unresponsive.
"It was a seizure that lasted about 5 minutes but felt like an eternity," says Molly.
After Molly called 911, Brody was rushed by ambulance to UW Health's American Family Children's Hospital, where physicians in the Emergency Department began treating him with anti-seizure medication. Unfortunately, Brody did not respond well. Doctors tried other anti-seizure medications, but Brody didn't tolerate those either and his erratic behavior was scaring his parents to no end.
"He just didn't seem like my kid anymore," Molly recalls.
UW Health pediatric neurologist David Hsu, MD, didn't yet have an explanation, but he suspected that genetic testing - for Brody, his parents Molly and Matt, and his new baby brother, Colton - might reveal the answer.
What Dr. Hsu learned could not have been more devastating to the Koslowskis.
A Devastating Diagnosis
"Dr. Hsu called and told us we had to come in," says Molly. "We learned that Brody had a very rare genetic disorder that attacks the nervous system called CLN2 Batten Disease. Kids who have it ultimately stop walking and talking. Their motor skills deteriorate, and they usually go blind. The worst news was that these kids typically die between age 8 and 12, because the disease simply overtakes the body."
"Matt and I collapsed to the ground," Molly says. "To say we were heartbroken would be a huge understatement."
"CLN2 is a horrible diagnosis for any parent to receive about a child," says Dr. Hsu. "It affects about one out of every 100,000 babies born in the United States."
Children like Brody are missing an essential enzyme, tripeptidyl peptidase 1, that helps cells dispose of waste material. "Without this enzyme," adds Dr. Hsu, "the undisposed waste material triggers a buildup of damaged cells that causes the seizures and eventually, loss of vision and motor skills."
Although CLN2 was originally identified in 1903 by a British pediatrician named Frederick Batten, no treatment existed for more than a century. Researchers at Rutgers University finally identified the CLN2 gene and missing enzyme in 1996, but no treatment for children with CLN2 existed until 2017. That's when a groundbreaking drug, Brineura®, was approved by the U.S. Food and Drug Administration after an international clinical trial proved its ability to slow - though not stop - the progression of CLN2.
New Drug Replaces Missing Enzyme
"Brineura is a synthetic replacement for the child's missing enzyme," says Debra Charlesworth, Vice President, Corporate Communications for BioMarin Pharmaceutical, the manufacturer of Brineura. "In clinical studies, children treated with Brineura experienced a slower rate of decline."
Children on Brineura require a full-day infusion at one of a select number of hospitals staffed with physicians and nurses specially trained on how to administer the drug. Patients must be treated biweekly, and the drug is carefully infused through a port that is permanently placed under the skin at the top of the child's head by a pediatric neurosurgeon. The patient's hair grows back over the port, so it is not very conspicuous.
Because CLN2 is so rare and the drug is so new, American Family Children's Hospital had never treated a child with Brineura. Brody needed the drug, and Dr. Hsu wanted to spare the Koslowskis the hassle of a long drive to a distant city. Instead of sending the family to the closest site, Rush University Medical Center in Chicago, Dr. Hsu worked exhaustively to bring the drug to American Family Children's Hospital. A 30-minute drive to Madison from their home in nearby De Forest, Wis., sounded a lot better to the Koslowskis.
Chicago Visit Helps UW Team Learn to Treat Brody
"Brody is just the fourth child being treated with Brineura in the state, and the other three are traveling out of state," says Dr. Hsu. "Once I learned that Chicago was the closest center, I contacted my pediatric neurology colleague there and she invited our team, along with Brody's family, for a daylong visit."
Elizabeth Berry-Kravis, MD, PhD, the pediatric neurologist from Rush, could not have been more welcoming.
"Four doctors and two nurses from UW watched us infuse three of our own patients, and then we gave Brody his first treatment," she says. "We gave the UW team and Brody's family an on-site tutorial so they could take it back to Wisconsin and treat Brody close to home."
For Dr. Hsu, who aggressively spearheaded the effort to cross every T and dot every I with the hospital and the family's insurance company, making life easier for Brody and his family was incredibly gratifying.
"This is one of the shining moments of my career," he says, noting that many UW Health colleagues - from Neurology to Neurosurgery to UW Health administration - willingly cooperated.
Dr. Berry-Kravis, who has worked with pediatric neurology teams from several other institutions, says she never witnessed the kind of commitment put forth by Dr. Hsu and the UW Health team.
As of July 2020, Brody has undergone 28 infusions at American Family Children's Hospital. He's making progress with his speech delay and looking stronger and better coordinated. Brody went for quite a long stretch without having seizures. A few recent seizures have been treated with medication.
"It's a really long day for Brody when his family comes for the Brineura infusion, but he's a real trooper," says UW Health Child Life Specialist Brianna Hampton. "He loves to watch shows like ‘Paw Patrol' and really engages when we bring him new toys to play with."
Molly and Matt have received incredible support not only from within the hospital but from friends, family, co-workers and their community. They will never, however, forget how Dr. Hsu tirelessly worked to diagnose Brody early - a key factor in his favor - and make local treatment possible at American Family Children's Hospital.
They also can't say enough about pediatric neurology nurses Kalyn Lasche and Tiffany Nelsen, who work tirelessly not just for Brody but his entire family.
"We are just so grateful for everyone at that hospital," Molly says. "They really worked their butts off for Brody."