Oliver Broner was such an alert and strapping baby that his parents found swaddling him difficult.
“He wouldn’t stay still,” said his father, Achai Broner. “We felt like, wow, you’re really strong for how small you are.”
Something seemed to change, however, when 3-month-old Oliver became sick and spiked a fever of 103. Numerous tests ruled out major illnesses, such as meningitis, but physicians at California Pacific Medical Center in San Francisco were unable to pinpoint a cause. Eventually, the fever subsided and Oliver returned home. Doctors concluded he’d probably contracted a virus.
But after that, Liz Broner said, she and her husband began noticing Oliver’s stalled progress reaching developmental milestones. He had been rolling over but then stopped for several months. He was slow to sit up and didn’t start crawling until he was 14 months old, Liz said.
Oliver’s activity level declined to the point that swaddling him became so much easier, both parents agreed. They weren’t certain something was wrong, it was more of a “feeling or perception,” Achai Broner said.
When the Broners raised concerns, their pediatrician told them to stop worrying: Kids develop at their own pace. They tried telling themselves that, as first-time parents, perhaps they were overly stressed.
But Oliver did not start walking until he was 22 months old, and over time, his movements looked “different … almost like he was drunk,” his father said. It only got worse. Oliver’s gait was wobbly, with shifts from side to side; he fell often, and later, standing still became difficult.
In Austin, where the Broners had moved in 2012 to be closer to family, a new pediatrician echoed the guidance to relax, saying children develop at different rates.
The doctors’ dismissiveness was troubling, Liz said: “They weren’t listening to what we were saying we were seeing.” Still, challenging the medical establishment was difficult. “You have this self-doubt as a parent — am I doing enough?” she said. “We had these experts … you think, they must be right.”
Eventually, the Broners’ persistence led to a referral to an occupational therapist, who found that Oliver’s pupils were different sizes and he had tremors in his hands.
More tests ruled out multiple sclerosis and muscular dystrophy. A DNA “microarray,” which analyzes thousands of genes or genetic variations, found nothing noteworthy. An MRI showed no brain damage. Even so, one neurologist, and then a second, said Oliver probably had cerebral palsy, a group of conditions that affect movement, balance and posture.
Oliver was “not going to be a basketball player or surgeon, but he can live a pretty normal life,” one neurologist told the family. In any case, the doctor added, no further treatment was available.
But this was not the end of Oliver’s medical odyssey, which his parents described as “overwhelming, frustrating and heartbreaking at times.” Their search for answers would stretch on for years, with numerous visits to specialists — in cardiology, genetics, neurology and sleep medicine — until, eventually, a rare diagnosis emerged.
Frequent pain
Even before preschool, Oliver began dragging his toe while walking. At age 4 he was fitted for ankle braces; at about 6 he started using elbow crutches for more support.
In second grade, Oliver, then 8, complained of foot pain regularly — sometimes it was so bad he’d have to leave school. One doctor suggested he had restless leg syndrome. The Broners tried various treatments to ease their son’s pain: supplements, gabapentin, muscle relaxants. Those helped for a few days, but the pain would come roaring back, disrupting his sleep and daily activities.
A new neurologist suggested whole exome sequencing, a type of genetic sequencing that can detect hidden mutations and rare diseases.
To discuss the genetic test and other issues, the family met with Seema Lalani, a clinical geneticist at Texas Children’s Hospital in Houston and a professor in the department of molecular and human genetics at Baylor College of Medicine. Liz Broner recalls that 2019 appointment clearly because when Oliver walked in, Lalani said, “Someone has told you he doesn’t have cerebral palsy, right?”
“Both of our jaws hit the floor,” Liz said.
Even though he’d been diagnosed with cerebral palsy at 2 years old, Lalani wrote in an email, “his normal brain MRI and findings on physical examination during our evaluation made this diagnosis less likely.”
The doctor suggested that Oliver’s symptoms looked more like ataxia, a neurological condition that makes movement and coordination difficult. But that turned out not to be the case.
Genetic clues?
In January 2020, Oliver met with Lisa Emrick, a pediatric neurogeneticist at Texas Children’s Hospital in Houston, who reviewed the results of the whole exome sequencing. The test found “a variation of unknown significance” on his DNM1L gene and determined that the variant was de novo, meaning new, not inherited. But Emrick and other clinicians initially believed it was unlikely that this was the cause of Oliver’s movement disorder and developmental delays. That’s because they’d seen other patients with DNM1L variations who had different, and far more severe, symptoms.
Emrick said it looked like Oliver had dystonia, which is characterized by abnormal, involuntary movements triggered by muscle contractions. She observed Oliver’s leg turning inward when he walked, for example.
On a hunch, she suggested that Oliver try Sinemet, or levodopa-carbidopa, a medication used to treat Parkinson’s disease. The drug, she said, supports the processing of dopamine in the brain’s basal ganglia, which helps with movement control. She said she sometimes prescribes this drug for patients with dystonia, and “when there’s a disconnect between the brain and movement disorders,” even when the specific cause isn’t clear.
At first, the medication didn’t seem to work, but increasing the dose proved effective. Oliver’s parents saw that he was able to jump off the playground swings without stumbling, walk around the block without crutches and climb stairs without holding a rail. “We were showing him off to everyone — it was such a good moment, we felt that changed the quality of his life. It didn’t stop the progression, but slowed it,” Achai Broner said.
In April 2021, the family submitted Oliver’s case to the Undiagnosed Diseases Network, a program supported by the National Institutes of Health that mobilizes researchers to study the health conditions of patients unable to get a diagnosis elsewhere.
But Oliver’s case was rejected because, surprisingly, another patient with exactly the same gene variant and similar symptoms was already part of the network. Through the UDN, the Broners met the other patient and also connected with Michael Wangler, a pediatrician, researcher and medical geneticist at Baylor College of Medicine who studies the DNM1L gene in fruit flies. The family enrolled Oliver in Wangler’s research study.
At first, Wangler said, he was skeptical. Like other clinicians, he’d seen several patients with DNM1L mutations, but he said their physical symptoms — such as early-onset epilepsy — were different, and more severe, than Oliver’s.
“What changed my mind was finding other families who have similar symptoms with the same identical gene variant,” Wangler said.
The DNM1L gene provides instructions for making a crucial protein that helps mitochondria, the tiny powerhouses that supply energy to cells, divide and maintain their shape, Wangler said. DNM1L performs a similar role in peroxisomes, small cellular structures that help process specific fats and protect cells from oxidative damage, he added.
By studying fruit flies, Wangler found that variants in one region of the DNM1L gene are associated with more severe symptoms than variants in other regions. Oliver’s variant, he said, occurs in a different section of the gene, which is associated with a more moderate set of symptoms.
Wangler’s lab had previously studied DNM1L in fruit flies, but Oliver’s particular variant was unique. It took nearly two years to engineer flies carrying the equivalent mutation. Like Oliver, those flies had difficulty with movement, providing evidence that the variant disrupts the gene’s normal function.
A diagnosis emerges
The Broners moved to Needham, Massachusetts, in the summer of 2025, and Oliver began seeing doctors at Boston Children’s Hospital. His diagnosis had become clear over time, as Wangler’s genetic research progressed and doctors came to agree that DNM1L was the culprit. Eventually, the diagnosis became part of his official record. Oliver’s exome analysis was reclassified, and the DNM1L variation that had initially been deemed as having “unknown significance” was amended to “likely pathogenic,” meaning it was, effectively, the cause.
To increase awareness of this rare condition, the Broners launched a foundationfocused on DNM1L-related disorders. The organization raises money for research and connects families navigating the condition, said Achai Broner, who works as a sales executive for an HVAC company. (Liz Broner formerly worked at an environmental nonprofit. Now she’s a stay-at-home mom.) So far they’ve documented a total of 58 cases worldwide.
Oliver Broner, now 15, is in many ways a typical ninth-grader. He’s into Fortnite and other video games, and likes reading mysteries and watching scary movies. Over the summer, he discovered archery and enjoyed hanging out with friends at a local pool. In other ways, though, he stands out: An aide accompanies him at school, and, while he can walk inside the classroom, he travels to and from school in an electric wheelchair. “It’s not ideal, but I could have it a lot worse,” Oliver said. On “good days” he is pain free; but sometimes his medications work for only half a day, and his legs start to hurt. This leads to more trouble walking and, sometimes, slower cognitive processing.
Oliver thinks about how “random” his disorder is and why it happened to him. His two younger sisters, ages 12 and 9, do not have the same genetic condition. But mostly he’s just getting on with his life in high school, where, generally, the other kids “treat me like a normal person.”
“Sometimes they’re surprised I’m in a wheelchair, because I walk,” Oliver says. “But I say it’s, like, a genetic thing.”
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