For Fiadh: Pushing the envelope to treat drug-resistant epilepsy

Fiadh is a bubbly and empathetic 4-year-old. And if you ask her parents, Elaine and Dario, she’s also mischievous and wild.

“She knows when she shouldn’t be doing something,” Elaine says. “Then she gives you a look, giggles, and does it anyway.”

Fiadh’s tenacity likely comes from her mother, which is a good thing. After all, it was Elaine’s resolve that helped find answers and hope for Fiadh’s refractory epilepsy.

Early signs and urgent action

Fiadh’s epilepsy began with subtle signs in infancy that could have been easily missed — even by Elaine, who has a PhD in neuroscience and works in epilepsy research.

One day in February 2021, when Fiadh was about 5 months old, Elaine noticed tiny jolts or startles. Despite it being a snowy New England weekend and Dario being on duty as a firefighter, she knew Fiadh needed to be evaluated immediately.

“I called our pediatrician, who told us to capture it on video and call on Monday,” Elaine recalls. “But it just didn’t feel right, so my father-in-law drove us to Boston Children’s in the snowstorm.”

Dario met them at the hospital.

Elaine told  the emergency room staff that she suspected Fiadh was having infantile spasms, a type of seizure that occurs in babies. She showed videos of the movements to Dr. Rachel Hirschberger, the neurologist on call, who agreed the movements were concerning. A few days later, an outpatient EEG confirmed infantile spasms; Fiadh was admitted to the Epilepsy Monitoring Unit that same day for further testing. Meanwhile, her condition worsened, escalating from a few isolated “startles” to over 100 spasm clusters a day. A course of steroids — a standard initial treatment for infantile spasms — helped for a few weeks. However, Fiadh soon began experiencing focal seizures, which presented differently and affected her awareness and mobility. The seizures rapidly became resistant to medication.

“We would try a new medication, hope and wait, get brief periods of relief, and then the seizures would increase again rapidly,” Dario says.

A collaborative approach to answers

Because focal seizures originate from a specific area of the brain, doctors often consider surgery to disable or remove the affected tissue. Fiadh’s team at Boston Children’s Epilepsy Center — including neurologists Dr. Chellamani Harini, Dr. Jurriaan Peters, Dr. Catherine Salussolia, and neurosurgeon Dr. Scellig Stone — faced challenges in their decision-making, given that Fiadh was only 2.

“Surgical interventions in young children require a careful balance,” Dr. Salussolia explains. “Our goal was to reduce Fiadh’s seizures while minimizing the risks of long-term disability, preserving her developmental progress, and improving her quality of life.”

“Children Fiadh’s age are going through such critical developmental stages,” Dr. Stone adds. “Waiting a few months for treatment when you’re 2 is like waiting several years as an adult in terms of the impact seizures can have on your brain.”

Gathering more data

Noninvasive testing, such as brain PET/CT scans and MEGs, suggested that Fiadh’s seizures were originating from her temporal lobe, the part of the brain responsible for processing sound, language, memory, and emotions. However, the team and Elaine and Dario wanted more information before proceeding with surgery to remove that area. They discussed stereo EEG (stereo-electroencephalography) to obtain a more detailed recording of her brain activity.

“We wanted to be 110 percent sure about our plan,” Elaine says.

Elaine and Dario consulted other child epilepsy experts, all of whom supported the Epilepsy Center team’s approach.

“It reassured us we had the right plan for Fiadh,” Elaine says.

The role of stereo EEG

Stereo EEG is a specialized procedure where electrodes are applied to specific areas of the brain through small holes in the skull to pinpoint where a person’s seizures are forming. For very young children like Fiadh, stereo EEGs pose unique challenges due to their delicate skulls, which make placing the electrodes more complex. Additionally, keeping Fiadh safe and still during the data recording posed its own challenges. However, the team discussed these concerns at length with Elaine and Dario, who agreed they needed data to make the most informed decisions.

In January 2023, Fiadh underwent a stereo EEG with 11 electrodes implanted, identifying a suspicious spot in her insular cortex, an area deeper in the brain than the temporal lobe.

“She was just so good; she did so well,” Elaine says of the eight days Fiadh spent in the ICU for the monitoring. “All she wanted was ice cream and to watch Frozen.”

Guided treatment

After confirming that Fiadh’s seizures originated in her insular cortex, Dr. Stone performed laser ablation, a targeted procedure that removes only the affected tissue instead of a more invasive surgery.

“We always aim for the most minimal effective surgery to avoid causing deficits,” Dr. Stone says.

Laser ablation provided Fiadh temporary seizure freedom, but eventually, her seizures returned, reaching 10 to 30 a day.

Eight months later — with her brain and skull more developed — Fiadh underwent another stereo EEG for more extensive sampling. The new data revealed a large seizure network remaining, prompting a discussion about a new surgical approach.

Last November, Dr. Stone performed a left frontal lobe disconnection with anterior corpus callosotomy to disrupt the seizure network and prevent seizures from spreading between the sides of her brain. The group discussed candidly that this approach would not guarantee seizure freedom, but Elaine and Dario believed it was the right move.

“We had to do something,” Elaine says. “We couldn’t continue with her having 10-30 seizures a day. No medication was stopping them. We had to do this.”

Last Thanksgiving, Fiadh underwent the 10-hour procedure to cut the bundle of nerves connecting the two halves of her brain and spent three weeks in the hospital recovering. She has been seizure-free since. For Elaine and Dario, the results underscore the importance of finding a team that listens and helps navigate difficult decisions.

Moving forward

In the year since her surgery, Fiadh has had regular follow-ups with the neurology, neurosurgery, physical therapy and occupational therapy, and ophthalmology teams at Boston Children’s — all of whom are delighted with her progress. Elaine and Dario have cherished watching their daughter thrive. Fiadh has developed a love of babies, bubbles, slime, and dogs, and her favorite person in the world is her five-year-old sister, Aida.

“She’s here, alert, and loving life,” Dario says. “She’s an absolute joy, our Fiadh,” adds Elaine. “She fits her name, which means untamed strength, resilience, and wild beauty.”

Learn more about the Epilepsy Center.