Newswise — When it comes to precision medicine, the solutions aren’t always pills. For a young child like 18-month-old Lucia, this precision medicine came in the form of a unique diet.
Before beginning the medical ketogenic diet, Lucia, then just 2 months old, experienced multiple seizures each week. These seizures could last up to five minutes and were not responsive to traditional antiseizure medications. After uncovering a rare genetic mutation linked to her epilepsy, her parents, Rebecca and Gloria, sought specialized care at CHLA’s Comprehensive Epilepsy Center.
Today, Lucia is an energetic toddler, free from seizures and reaching new developmental milestones. “Once we knew the cause of Lucia’s seizures, the ketogenic diet felt like ‘the cool, easy fix,’” Rebecca shares. “It was a revelation about the power of food.”
Early Symptoms
Lucia was born at 38 weeks with no apparent health issues, after what Rebecca describes as a normal pregnancy. However, at 6 weeks old, unusual and concerning episodes began to occur.
Rebecca and Gloria noticed Lucia getting overly sweaty during episodes. Initially attributing these to overheating, they would adjust the air conditioning and change her clothes. One severe episode prompted a 911 call and even CPR.
Gloria recalls the event vividly: “She looked pale, went limp, and was drenched in sweat. She wasn’t responsive to us. It seemed like she was choking, but we hadn’t given her anything.”
Over the next few weeks, Lucia experienced several severe episodes, leading Rebecca and Gloria to repeatedly call 911. Despite suspicions of seizures, paramedics could not confirm their diagnosis.
“It was horrific, seeing our little 8-pound baby on a stretcher, being transported to an ambulance,” Gloria says. “You have to trust your instinct even when doctors say otherwise.”
Inital Diagnosis
The family spent over a month in the hospital before Lucia received a diagnosis of epilepsy. Doctors initially prescribed common seizure medications, increasing doses over time, but with no success. At one point, discussing medically induced coma seemed inevitable.
“It was like our baby was gone,” Gloria reflects. “We wondered if this would be her future.”
A Breakthrough Discovery
The breakthrough came when Lucia’s parents were introduced to a child neurologist who specialized in rare genetic markers at Children’s Hospital Los Angeles. This doctor suspected Lucia might have GLUT1 deficiency, a rare genetic disorder affecting glucose transport in the brain.
GLUT1 stands for glucose transporter 1 deficiency. Without sufficient glucose, the brain can experience seizures, cognitive difficulties, and developmental delays.
The genetics test confirmed Lucia’s condition. “It felt like bad news at first, but we learned there was a treatment,” Rebecca says.
The Ketogenic Diet as Precision Medicine
First-line epilepsy medications do not work for children with GLUT1 deficiency, which is why diet therapy, specifically the ketogenic diet, is essential.
Asri Yuliati, MD, an attending physician at CHLA’s Comprehensive Epilepsy Center, explains that the ketogenic diet is a precise therapeutic approach for certain epilepsy types. “For kids like Lucia, the ketogenic diet acts as precision medicine.”
This diet involves a meal plan extremely low in carbohydrates, moderate in protein, and high in fat. When the body lacks carbohydrate fuel, it turns to fat, producing ketones that can directly fuel the brain.
“Ketones bypass the glucose transporter protein, providing energy directly to the brain,” Dr. Yuliati adds.
Lucia’s Transformation
Following her diagnosis, Lucia’s parents consulted with dietitians at CHLA’s Comprehensive Epilepsy Center. These professionals monitor patients closely during the initial inpatient phase to ensure a safe transition into ketosis.
Lucia adjusted quickly and was seizure-free within weeks. “She lifted her head for the first time just four days after leaving the hospital,” Gloria recounts, “It was like she woke up, knowing we were there.”
One Year of Milestones
Since September 16, 2023, Lucia has been seizure-free. With guidance from her dietitians, the family transitioned Lucia from formula to solid foods, crafting carefully measured recipes to maintain her ketogenic state.
Rebecca even baked Lucia a specialty “keto cake” for her first birthday, highlighting the family’s commitment to her nutritional needs. “It isn’t easy, but it’s worth it when you see your child thriving,” Gloria notes.
Today, Lucia attends various therapies to ensure she meets her developmental milestones. She began crawling last year and is now learning to walk.
“Diet therapy changed our daughter completely,” Gloria says, “We’re just so grateful.”
Conclusion and Impact
Lucia’s story highlights the transformative potential of the ketogenic diet for children with severe, medication-resistant epilepsy linked to genetic factors like GLUT1 deficiency. Managed carefully by medical professionals, this diet therapy can significantly improve quality of life and developmental outcomes.
For families facing similar challenges, it’s essential to seek specialized care and explore all available treatment options thoroughly.
Learn more about the Comprehensive Epilepsy Center at CHLA.
Join the conversation on social media and share your thoughts. Your experiences can help others in similar situations. Don’t forget to subscribe to our newsletter for more inspiring stories and valuable health information.