Medical Ketogenic Diet Helps Lucia Stay Seizure-Free

Not all precision medicines come in pill form. For some children, like 18-month-old Lucia, food has been that precision medicine.

Before she started the medical ketogenic diet, a then-2-month-old Lucia would have several seizures per week that could last as long as five minutes each and weren’t helped by antiseizure medications. After discovering the rare genetic mutation behind Lucia’s epilepsy, her parents, Rebecca and Gloria, took her to CHLA’s Comprehensive Epilepsy Center for specialty treatment.

Today, as an energetic toddler, Lucia moves through the world seizure-free and continues to meet new growth and development milestones. “Once we finally knew the cause of Lucia’s seizures, the ketogenic diet felt like ‘cool, easy fix,’” Rebecca remarks. “I never thought about the power of food before this experience … It changes lives.”

Concerning episodes 

Lucia was born at 38 weeks, with no observable health problems, after what Rebecca describes as a “typical pregnancy.” But starting at 6 weeks old, Rebecca and Gloria noticed Lucia having several odd and troubling episodes. “We were out house hunting,” Rebecca says, recalling the first episode that concerned her. “All of a sudden, she got really sweaty. We didn’t know what that meant.”

These episodes happened several more times—with Rebecca and Gloria constantly adjusting the air conditioning and changing Lucia’s clothes—until one day when Lucia had an episode so severe that Rebecca called 911 and even started CPR. “We had her at home in a swing, and we were going to take pictures of her. She was so happy. All of a sudden, she looked pale, went limp, and was drenched in sweat,” Gloria describes. “She just wasn’t responsive to us. The best way we could describe it is that we thought she was choking … but we hadn’t given her anything.”

Several times over the next few weeks, Rebecca, Gloria, and Lucia repeated this pattern—Lucia would have a serious episode, and Rebecca and Gloria would call 911. While they’d begun to suspect seizures, paramedics weren’t yet able to identify what was happening. 

“This little 8-pound baby on a big old stretcher, being put into an ambulance, was so scary,” Gloria says, recalling several times when paramedics assured her that Lucia wasn’t having a seizure. “You want to trust your mom instincts, even when medical professionals are telling you you’re wrong.” 

An initial diagnosis with few solutions 

The family spent a collective 30 days at area hospitals before Lucia finally received an epilepsy diagnosis. 

At first, doctors tried the solution that works for about 70% of people with epilepsy: levetiracetam (brand name Keppra) and phenobarbital. But while Lucia was prescribed increasingly higher doses, her seizures kept coming. Gloria recalls even hearing the words medically induced coma at one point. 

“It was like our baby was gone,” she says. “We asked ourselves, is this the future? Is this what we’ll have to do to keep Lucia from having seizures?”

Lucia’s DNA holds the answer

Finally, Rebecca and Gloria were introduced to a child neurologist who completed his residency at Children’s Hospital Los Angeles and studied under a physician-researcher in CHLA’s Epilepsy Monitoring Unit. Through his residency, he’d learned about specialized epilepsy treatment for patients with a rare genetic marker called GLUT1. Suspecting this might be the case for Lucia, the doctor sent the family home with a genetics test. 

GLUT1 stands for glucose transporter 1 deficiency. GLUT1 is a protein that transports glucose from the blood to the brain. Glucose is an essential fuel for daily brain function—and without it, people can experience seizures, difficulty with memory and learning, and even lifelong developmental delays.

It took a month to get the genetics results back, but the test confirmed that Lucia did have GLUT1. “It didn't feel like good news at the time, but now we understand there's a known treatment,” says Rebecca. 

Diet therapy as precision medicine 

First-line medications don’t work for kids with GLUT1 because they don’t solve the chronic lack of fuel to the brain. GLUT1 patients need an alternative first-line treatment, and diet therapy—specifically, the medical ketogenic diet—provides exactly that.

“Diet therapy is a fantastic therapy for certain types of epilepsy,” says Asri Yuliati, MD, attending physician at CHLA’s Comprehensive Epilepsy Center. Dr. Yuliati explains that kids with medication-resistant epilepsy, or intractable epilepsy, can see life-changing results with a ketogenic diet. “For kids with Lucia’s particular condition, the ketogenic diet acts as precision medicine.” 

The medical ketogenic diet enables Lucia’s body to create and use alternative fuel through a meal plan that’s extremely low in carbohydrates, moderate in protein, and high in fat. When the body can’t source carbohydrates to break down into glucose, it seeks out fat and breaks it down into ketones, which serve as fuel when glucose isn’t available. “Ketones bypass the glucose transporter protein,” Dr. Yuliati adds. “They can fuel the brain directly.” 

All the horrifying events Lucia had experienced over the past several months started to make sense: Lucia’s brain wasn’t getting the nutrients it needed to function. 

Lucia’s new world 

Once Rebecca and Gloria had Lucia’s results, their doctor referred them to CHLA, where they quickly connected with Katie Klier, RD, CSP, CDCES, and Candice Barrow, MPH, RD, Clinical Dietitians at CHLA’s Comprehensive Epilepsy Center. 

“We have 100 to 150 patients on the medical ketogenic diet at any given time,” Klier says. While GLUT1 is a rare condition, CHLA treats many children with GLUT1 whose families travel from all over the country for specialty care. 

Lucia spent 5 days as an inpatient at CHLA while her care team closely monitored her health and ensured her new ketogenic formula could safely bring her body into ketosis. “This is not a diet I would ever recommend anyone do on their own,” Klier says, explaining that the medical ketogenic diet can have significant side effects and should be supervised by a medical team. Patients on the medical ketogenic diet can experience low blood sugar, vomiting, nausea, and weight loss while their body adjusts to the alternative fuel. “We observe patients closely, individualizing the therapy to whatever that particular child will tolerate.” Klier adds that Lucia adjusted to her new way of life “like a champ.” 

Within three or four days, Klier explains that patients typically achieve a full level of ketosis while maintaining healthy blood sugar levels. Most patients who respond to the therapy can expect to see their seizures improve within one to three months.

“It was like our daughter woke up” 

As hard as it was seeing their daughter in a hospital bed again, getting constantly poked and prodded, the change Rebecca and Gloria noticed just a week later was monumental. 

Lucia lifted her head for the first time just four days after she left the hospital. “She was suddenly noticing things … knowing we were there,” Gloria says, explaining that before diet therapy, Lucia wouldn’t react to changes in her environment, whether it was bathtime or she was riding in the car. 

“It was like our daughter woke up,” Gloria reflects, “She became a whole other baby.” 

“She became Lucia,” Rebecca adds. 

A year of firsts 

Lucia has been seizure-free since Sept. 16, 2023. 

With Klier’s guidance and a diet-specific meal calculator app, Rebecca and Gloria transitioned Lucia from formula to solid foods when she was ready and have gained confidence in creating recipes that keep Lucia’s body in ketosis. For Lucia’s first birthday, Rebecca even baked her a specialty “keto cake.”

“It isn’t easy to change your whole lifestyle as a family,” Gloria says, remarking on the challenges of cooking meticulously measured and portioned meals for Lucia that might look completely different than what is considered healthy for someone without epilepsy.

“I think all you have to do is look at your child,” Rebecca adds, “Then yeah, it becomes a little bit easier.”

Today, Lucia goes to speech therapy, occupational therapy, and physical therapy to ensure she’s meeting key neurodevelopmental milestones. “Her dance card is full!” Gloria jokes. With the help of Lucia’s physical therapist—one of her favorite people in the world—Lucia started crawling last year and is learning how to walk.

“Diet therapy just totally, completely changed our daughter,” Gloria says, “We’re just so grateful.”