Baby Thriving After Early, Expert Care For Infant Spasms

Girl with rare neurological condition remains spasm-free after responsive treatment at Stanford Medicine Children’s Health’s Level 4 Pediatric Epilepsy Center

Five-month-old Poppy was a happy baby. She rarely fussed and barely ever cried. That’s why when she started crying one evening and didn’t stop, her parents worried something was terribly wrong. Their fears were confirmed when she began spasming in bed that evening.

“Her eyes rolled backward and she flung her arms out and pulled her legs up to her chest. We were shocked and worried,” says Rebekah, her mom.

Poppy continued crying and spasming so the family called an ambulance to take her to a nearby hospital. Doctors thought it was acid reflux, but when Poppy was still having spasms the next day, Rebekah knew it was more than that. She called Stanford Medicine Children’s Health, who encouraged her to bring in Poppy right away.

Poppy was seen in the Emergency Department at Stanford Children’s, then admitted. That evening, epilepsy specialists performed an electroencephalogram (EEG) to study Poppy’s brain waves.

Diagnosing infantile epileptic spasms syndrome (IESS)

“Poppy’s EEG revealed a pattern known as hypsarrhythmia and she was showing all the classic symptoms of infantile epileptic spasms syndrome (IESS),” says Emily Spelbrink, MD, PhD, an epileptologist with Stanford Children’s high ranking Pediatric Epilepsy Center. “It is a serious and rare neurological emergency.”

Left untreated, infants often go on to develop epilepsy and epileptic seizures.

“It was hard hearing the diagnosis. I had no idea what it was, but I was glad to know it had a name so she could get care,” Rebekah says.

Infantile epileptic spasms can slow or stop development, causing babies to regress. Parents may notice that their infant doesn’t make eye contact anymore, or they stop babbling and only cry. 

“Catching it early and treating it quickly is crucial for babies to continue developing normally. The spasms are markers of abnormal brain activity that makes static rather than useful signals,” Dr. Spelbrink says.    

Getting treatment for infantile epileptic spasms syndrome (IESS) at Stanford Children’s

Treating IESS is not a simple process. Knowing the cause helps determine treatment. Poppy’s epilepsy doctors began with a physical exam to look for clues in her skin, which forms together in a similar way as the brain’s neurological system. Poppy’s skin didn’t show any signs.

Next, they gave her a brain magnetic resonance imaging (MRI) scan to check for malformation (when the brain doesn’t form correctly during development) or injury. The MRI didn’t show anything concerning. They also performed genetic epilepsy testing to check for genetic conditions like tuberous sclerosis which can cause non-cancerous tumors to grow in the brain. Again, they came up empty-handed.

“In most children we can find a cause for infantile epileptic spasms syndrome (IESS), but with Poppy we didn’t. While that was frustrating, it meant a likely better outcome,” Dr. Spelbrink says.

There are medications to treat IESS and stop spasms. Epilepsy specialists worldwide debate which medication is best to use first. There’s an injectable hormone therapy, which is aggressive and requires a hospital stay and a daily injection for a few weeks. Another medication, an oral steroid, is a simpler approach, allowing parents to bring their child home that day.

“Dr. Spelbrink discussed the different treatment options, and I was too scared to do the shots right away. We chose to try the oral steroids,” Rebekah says.

Instead of getting better, Poppy’s spasms got worse on the oral steroid. She was ill and swollen from the medication, which made her lethargic. It was hard for her parents to watch her suffer.

“Her spasms kept happening, one after another, and I was staying up all night with her,” Rebekah says. “We decided we were ready to try the injections.”

The family brought Poppy back to Stanford Children’s for another EEG test. It showed her brain activity was not improving. She was also very fussy, likely due to side effects from the medication.

Everyone agreed that the injections were the right next step and Poppy was readmitted to Stanford Children’s that night. The nurses taught Rebekah how to inject the medication, which she continued to do at home for 14 days.

Stopping infantile spasms in their tracks

“At the end of treatment, Poppy’s EEG was free of hypsarrhythmia and she wasn’t having any spasms. We were very encouraged,” Dr. Spelbrink says. “Rebekah did an amazing job being loving and resilient through the whole process.”

It was a huge relief for the family, but it wasn’t until weeks passed without a spasm that Rebekah let herself feel hopeful. “When we got a few clear results from follow-up EEGs, we thought this is it, it won’t come back,” Rebekah says.

In total, Poppy’s infantile epileptic spasms syndrome (IESS) lasted less than three months. She has more than made up for that lost time of positive developmental growth.

“If Poppy hadn’t had treatment, she would probably still be spasming today,” Dr. Spelbrink says.

She can’t emphasize enough the importance of acting quickly at the first sign of spasm, like Poppy’s parents did, to improve a baby’s chance at a good neurological outcome.

“As uncomfortable as that time was with Poppy, it was as comfortable as it could be because of the care provided at Stanford Children’s,” Rebekah says. “I would definitely recommend the epilepsy center.”

Growing and thriving despite IESS

Poppy received physical therapy from Stanford Children’s to help bring her up to speed with sitting up and crawling. Today, one year later, Poppy is ahead of her developmental milestones.

“She’s very advanced for her age. She always has a smile on her face, and she loves to sing songs, talk, and follow her older brother Virgil around,” Rebekah says. “The spasms had no negative effects.”

Rebekah relishes her time with Poppy, walking in the woods and along the beach, knowing things could have turned out differently and feeling extremely grateful that those hard times are behind them.

“Watching how far she has come means so much,” Rebekah says.

Learn more about the Pediatric Epilepsy Center at Stanford Children’s >