Devon Popolizio was about 8 years old when she felt herself inexplicably drawn to sunlight. With her face turned toward the sun, she would swipe her hand across her eyes, repeating the motion over and over. Her parents told her to stop it, but Popolizio could not, sometimes doing the strange hand-waving motion 50 to 100 times a day. During each episode, she appeared to be in a hyperfocused state as her eyelids fluttered and her hand waved.

Kids at school made fun of her, and her parents were bewildered, thinking she had a tic that she could control if she wanted to. “It was kind of scary. I was the one who was a little different and didn't know why,” says Popolizio, who is now 28 and a therapist in Groton, CT. Even after Devon had a full-blown seizure, she says, her neurologist did not connect the odd hand-waving motion while in sunlight to seizures.

When Popolizio was a teenager, her mother came across a video that showed a boy doing the same bizarre motion. Armed with that information, Popolizio and her family sought an evaluation from Elizabeth Thiele, MD, PhD, a pediatric neurologist at Massachusetts General Hospital (MGH) in Boston. Before she left, Popolizio had a diagnosis: sunflower syndrome, a rare photosensitive type of epilepsy in which seizures are triggered by bright light, usually sunshine, and characterized by abrupt lapses in consciousness and hand-waving in front of the face. The disorder gets its name because sunflowers turn toward the sun.

Popolizio eventually joined a clinical trial of fenfluramine (Fintepla), an antiseizure medication, and she says the episodes have decreased. She also has adopted some strategies, including wearing sunglasses and keeping her hands busy when she is outside. Through social media sites and an annual family symposium organized by Dr. Thiele, Popolizio has come to know other people with the condition. “I've met hundreds of other people who do the same thing,” Popolizio says.

A Rare Phenomenon

Until nine years ago when she saw her first patient with sunflower syndrome, Dr. Thiele knew little about the condition. She soon discovered that her colleagues didn't know much either. She has since seen more than 120 children with it. The disorder is believed to be a type of generalized epilepsy (involving both hemispheres of the brain), but it is not fully understood, Dr. Thiele says. The seizures tend to begin before the age of 10, with girls accounting for about two-thirds of cases.

Many children who have it go on to have other types of seizures, particularly tonic-clonic seizures, which involve a loss of consciousness and the twitching and jerking of muscles. The frequency and duration of the hand-waving vary greatly from patient to patient, with some having just a few episodes each day and others having dozens. Some of the patients have other cognitive or neurologic problems, but many don't. “We think it is likely genetic because the symptoms are so distinctive,” Dr. Thiele says. “Once you know what it looks like, you wouldn't miss it if you saw it.”

No clinical or laboratory standards exist for making a diagnosis, although electroencephalograms (EEGs) are usually done to record brain activity, says Dr. Thiele. The EEG readouts of people with sunflower syndrome tend to show a pattern of spike waves, sharp waves, and slow waves indicative of generalized epilepsy activity. EEGs are often conducted while the patient is positioned in sunlight or bright artificial light to try to capture the hand-waving episodes.

“Most of these kids are initially diagnosed with tics, and many are thought to have behavioral problems leading to the hand-waving episodes,” Dr. Thiele says. Affected children are often bullied. Getting a diagnosis can bring relief, even if hearing the word “epilepsy” for the first time can be frightening for some parents. Many ask if and when their children are going to have tonic-clonic seizures, says Dr. Thiele. Parents also want to know if their children will outgrow sunflower syndrome or if it will be a long-term or lifelong condition, she says.

Antiseizure medications such as fenfluramine, lamotrigine (Lamictal XR), levetiracetam (Keppra XR), and valproate (Depakote) are typically prescribed. A high-fat, low-carbohydrate ketogenic diet may work for some patients, according to a patient guide created by the Pediatric Epilepsy Program at MGH.

Difficult Diagnosis

It was once thought that people induced these seizures by waving their hands in front of their eyes while in sunlight and creating a flickering light, but EEG results indicate that the waving and seizures occur simultaneously, suggesting that hand-waving is part of the seizures, says Dr. Thiele. She conducted an online survey of people with the disorder and/or their caregivers and found that many reported anxiety or depression and that the condition negatively affected their quality of life. The results were published in Epilepsy & Behavior in April 2021.

Ally Isley started taking antiseizure medication when she was 7 for what the doctor said was generalized photosensitive epilepsy, but she wasn't diagnosed with sunflower syndrome until she was a teenager. She remembers feeling like an outsider in elementary school. “When I was waving my left hand in front of my face, I was almost in a trance,” she says. “Other kids didn't understand, and I got teased. People would ask me what I was doing, and I didn't have the words to explain it.” Now 26, Isley runs a tutoring center in Concord, MA, and the antiseizure medication she takes controls her condition.

Getting an accurate diagnosis can be tricky, says Fiona Baumer, MD, a pediatric neurologist and sunflower syndrome researcher at Stanford University in Palo Alto, CA. “People often exhibit behavior for a long time before they come in for an evaluation,” she says. The syndrome is sometimes confused with Jeavons syndrome, another rare form of epilepsy, which is also characterized by rapid fluttering of the eyelids, but Dr. Baumer believes that seeking out the sun makes sunflower syndrome a unique condition.

About half of the people with the syndrome will go on to have full-blown seizures, she says. Antiseizure medication, particularly valproate, is usually prescribed, but the condition can be resistant to treatment. Patients should be on medication even if their symptoms are mild, says Dr. Baumer. “Having a lapse of consciousness puts you at risk. For example, if you were crossing the street and had a lapse, you could get hit by a car.”

Researchers continue to investigate possible causes, treatments, under-lying mechanisms, genes that may be involved, and how the syndrome manifests itself over time, says Dr. Baumer.

Making Connections

Families dealing with the condition often find others in similar situations through social media sites or, in some cases, a chance encounter.

Gillian McGraw Boyd was at a coffee shop near San Francisco with her husband, son, and daughter when she was approached by a stranger. “I am sorry to bother you,” Boyd recalls the woman saying. “Does your son have sunflower syndrome?” Boyd says the question and ensuing conversation were revelatory. Around the age of 6, her son, Hopper, had started doing what she thought was a “weird thing.” “He would be outside, facing the sun and waving his hand. We had no idea what was going on,” says Boyd, who lives in Novato, CA.

After the incident in the coffee shop, Boyd sought expert advice and was referred to a neurologist in San Francisco and then one in Sacramento, where Hopper had an EEG that showed a telltale seizure pattern. When the doctor made a diagnosis of sunflower syndrome, Boyd felt relief but also guilt. “When you see your kid doing something weird that he could be bullied for, you try to get him to stop.”

Hopper is currently on valproate, which helps reduce the frequency of his episodes. Conversations with her son, now in second grade, have changed too. “We tell him that being a sunflower is special. We tell him his brain works in a different way, but ‘different’ doesn't mean ‘bad.’” Boyd hopes to enroll Hopper in a genetics study to help further understanding of the rare seizure disorder. Researchers have identified genes that could be candidates and have determined that it's not a single-gene disorder. Boyd says there are many questions she still wrestles with as a parent, such as, “Do we keep him inside more to protect his brain, or allow him to lead his life?”

Strategies that may reduce seizures include wearing sunglasses or glasses with dark or blue-tinted lenses, blue-tinted contacts, wide-brim hats or visors, and pulling down shades or blinds in sunny rooms, according to the MGH patient guide. Dr. Thiele knew two families who moved to the less sunny Pacific Northwest, one from the Midwest and another from Colorado.

Dr. Thiele helps organize an annual sunflower syndrome family conference in Boston (which was videotaped this year); it has grown from 17 families six years ago to about 75 this year.

Devon Popolizio says her diagnosis inspired her to become a therapist and an advocate. She tries to convey a realistic but hopeful view of what people with sunflower syndrome can expect.

“Last year when I spoke at the [family] conference, my message for the kids was ‘Please know that it is going to be hard, but you will be successful; you will be smart. We just have this one thing, and we will keep on going.’”

Resources for Sunflower Syndrome

• Epilepsy Foundation: 301-459-3700
• E2E Foundation
• Genetic and Rare Diseases Information Center: 888-205-2311
• National Organization for Rare Disorders: 617-249-7300
• Pediatric Epilepsy Program at Massachusetts General Hospital: 888-644-3248
• Pediatric Epilepsy Research Consortium
• Sunflower Syndrome US