Preschooler Living Seizure-Free With Leading-Edge Medicine

Stanford Medicine Children’s Health’s Epilepsy Center provides the latest treatments and loads of compassion for kids with epilepsy

“It came as a complete shock,” recalls Lorena Castillo. Out of nowhere and without warning, her 20-month-old son, Samuel, had a large, long seizure. She had never seen one, so she wasn’t sure what was happening.

“I was getting ready for work and I heard a scream,” says Lorena. “I thought it was my daughter, who is afraid of bugs, but she came running in and said, ‘Why is Sammy shaking? He won’t stop shaking!’”

Lorena acted fast. Sammy wasn’t breathing, so she started CPR. He was unresponsive and had gone gray, so Lorena asked her daughter to call 911. By the time the paramedics came, the seizure had ended and Sammy was asleep. He was taken to a nearby hospital by ambulance.

At the hospital, Sammy had a second seizure in his father Chris’s arms that left him gasping for air. Doctors ran an electroencephalogram (EEG) and captured a third seizure.

“A fourth seizure came after that, so he had four big seizures in four hours,” says Lorena.

Getting diagnosed with epilepsy

The family from Visalia, California, was sent to an area children’s hospital where a neurologist diagnosed Sammy with epilepsy. The diagnosis came as a complete surprise, with no signs or symptoms before that day. Sammy was treated, but despite medicine, the seizures kept coming, often during his sleep but during the day as well.

“At one point he had 20 seizures in one day,” says Chris, who recorded every seizure on a calendar, marking the time of seizure and the medication type and dosage, to try to find some rhyme or reason for Sammy’s seizures to help stop them.

Generalized convulsive seizures—common to epilepsy—are especially scary because the person loses consciousness and has violent rhythmic muscle contractions. Unconsciousness can last several minutes, and people can wake up feeling confused and fatigued.

“He would have seizures multiple days in a row, for days and days. We needed help, and it was hard to access a neurologist locally. When things were bad and we couldn’t reach anyone, we would have to call an ambulance and go the hospital,” Lorena says.

Coming to Stanford Children’s for epilepsy care

Lorena and Chris were unsure what to do. Then a coworker of Lorena’s recommended Stanford Medicine Children’s Health. She asked her local doctor for a referral.

“I called the Pediatric Epilepsy Center at Stanford Children’s and we had an appointment the following week,” she says.

The family came to Stanford Children’s, despite the over-three-hour drive. Sammy was admitted for a weekend to monitor his seizures with EEGs from Stanford Children’s Health’s advanced Electroencephalography Lab for children. He didn’t have any seizures during that time, which isn’t unusual given the unpredictability of seizures with epilepsy.

To make things convenient for the family, nearly all subsequent appointments were provided virtually, and the Stanford team worked with area specialists to ensure consistent care for Sammy.

“One of the most remarkable things about Sammy is that he would have big seizures very often and look pretty good in between,” says Emily Spelbrink, MD, PhD, pediatric epileptologist.

The family had learned that Sammy’s epilepsy was related to a very rare genetic condition called Nicolaides-Baraitser syndrome, which affects fewer than 300 people worldwide. Rebecca Levy, MD, PhD, pediatric neuro-geneticist and medical director of the Neurogenomics Clinic at Stanford Children’s, verified the diagnosis.

Trying several medications for refractory epilepsy

“The medical evidence on his rare genetic disorder is that epilepsy tends to be very refractory (uncontrolled by medicine), which was Sammy’s experience,” Dr. Spelbrink says. “To control his really large, really frequent seizures, we had to try the whole spectrum of medicines, ones that agreed with him and ones that didn’t.”

Getting control is important, because uncontrolled convulsive seizures can be life-threatening. When frequent, they also can interfere with development and learning, and certainly with quality of life. This was very true for Sammy, who couldn’t run and play freely.

While Stanford Children’s offers leading-edge surgery for epilepsy, including ROSA robotic surgery with 3-D mapping, the care team starts with the least-invasive treatment: controlling seizures through medicines. The challenge was finding the right medicine in light of Sammy’s extremely rare genetic condition.

Under the guidance of our expert team of pediatric epileptologists—who consider every angle and have exceptional experience in how medicines work in individual patients—Sammy tried several medications. Often, a new medication or a change in dose would provide a few weeks of relief from seizures, but then they would start again. The family dubbed these two-week breaks the “honeymoon phase.”

“He was so happy and strong even when he had multiple seizures a day. We knew a cluster of seizures were over when he would finally wake up and smile, and say ‘Boo!’” Lorena says. “A couple hours later, you wouldn’t even know he had seizures and emergency medicine. He would be up and playing.”

It was extremely hard for the family to wish and wait, and watch medications fail, or watch Sammy having side effects to drugs. Some made him drowsy; others made him clumsy or floppy.

“When Sammy would go into a cluster of seizures, he would go into a period of stagnation developmentally. And when he had seizure control, even for just two weeks, he would pick up where he left off and be a normal kid,” Dr. Spelbrink says.

All of Chris’s recordkeeping on Sammy’s seizures came in handy. When seizures are refractory, it’s helpful to know which medications work best with the fewest adverse side effects. The family could pinpoint more effective medications, which were then used and built upon.

“We had a nice collaboration with the family. They were very attentive and had a really good sense of what was going on with Sammy. I felt like they were such good historians and observers that I could give them some leeway,” Dr. Spelbrink says.

Lorena was extremely grateful for Dr. Spelbrink’s attentiveness. “I would call her and she would respond within the hour and often on the same day. What doctor does that?” she asks.

The epilepsy team at Stanford Children’s offers 24/7 coverage for urgent questions and concerns. Doctors are able to call back in a timely manner and can set up quick virtual appointments as needed. The team’s responsiveness saved the family unnecessary emergency room visits and hospitalizations.

Finding the magic bullet: An off-label epilepsy medicine

Sammy was considered for a Stanford Children’s clinical drug trial, but he was too young to meet the criteria. However, Dr. Spelbrink had learned of a similar drug that was being used off-label in children with good results, called cenobamate. He was 3 years old at the time.

“It is FDA-approved in adults but not yet in kids. It was featured at a national epilepsy conference, and there are promising research studies that show two new mechanisms of action, so we decided to give it a try,” Dr. Spelbrink says.

Stanford Children’s epilepsy specialists stay abreast of the very latest treatments through their own research and others’. Dr. Spelbrink points to a recent medical study hot off the press that found that cenobamate achieves 90% to 100% seizure reduction in a quarter to a third of patients with drug-resistant epilepsy.

The family held their breath as cenobamate, in combination with other drugs, controlled Sammy’s seizures. The two-week honeymoon phase came and went. Then another two weeks. Then a month, and another month. A year passed, with Sammy’s seizures fully under control.

“He has had only one small seizure in a whole year. Now, we don’t even think about his epilepsy. I send him off to school and let him run and play without worrying,” Lorena says.

Living a seizure-free life

Sammy is developmentally delayed, related to his genetic condition and possibly also to years of frequent seizures, but he is catching up. “He loves basketball. We have a small hoop in the living room, and he’s accurate with his shots. And he can dribble. Before, he couldn’t do that,” Chris says.

Lorena is convinced that if they hadn’t come to Stanford Children’s, it would have been a much longer road to seizure control. Sammy is learning to talk, and he attends transitional kindergarten. He’s happy and active. Recently, he danced the night away at a family wedding.

“Being able to offer a patient the newest treatments is one reason I enjoy working at Stanford Children’s. The opportunity to provide hope for families is wonderful,” Dr. Spelbrink says. “If it was my child, I would want someone to stand beside me and not give up. That’s a real strength of our epilepsy neurology team at Stanford Children’s.”

Because of her passion for helping young children with epilepsy, Dr. Spelbrink is co-leading a national consensus study to establish new standards of care for epilepsy in early life that take a multidisciplinary approach to care and testing, including developmental support and genetic evaluation—extra services that help her provide the very best care for Sammy.

Sammy saw the Developmental-Behavioral Pediatrics team at Stanford Children’s so that a treatment plan could be created to help him catch up on his growth and learning milestones. The plan includes occupational therapy, physical therapy, and speech, which the Epilepsy Center’s case manager Perla Bautista-Muench helped set up close to home.

As long as Sammy continues to be seizure-free, Dr. Spelbrink and her team will require only one or two visits a year, along with virtual visits as needed until he becomes an adult.

“Sammy is totally beautiful. There’s color in his face, and he is always making eye contact. And he is so much more self-aware and calmer,” Lorena says. “He’s a typical, good boy.”