“Princess June” reigns supreme over Rasmussen syndrome

What do you call a “girly” 5-year-old who adores dolls and frilly nightgowns? If you’re one of June Pelletier’s nurses at Boston Children’s Hospital, the answer is “Princess June,” of course.

While Her Highness would much prefer to reign over her parents and three siblings at home in Connecticut, she’s no stranger to the hospital. In fact, she’s been a regular visitor since last year — when she underwent brain surgery to treat a rare neuroimmunologic disorder called Rasmussen syndrome.

“It was so scary to have to make the decision about surgery,” admits June’s mother, Samantha. “We wouldn’t have felt nearly as comfortable without our Boston Children’s team.”

Much more than a ‘pinched nerve’

Until recently, the most daunting medical experience June had encountered was getting a flu shot. So when her parents noticed in December 2023 that she had developed what seemed to be a muscle spasm in her right arm, they weren’t too worried at first. Her pediatrician suspected the cause was temporary: a pinched nerve.

Yet when the spasms persisted, the Pelletiers brought June to their local emergency room. Just days later, further testing revealed that the spasms were actually focal seizures. These types of seizures occur when abnormal electrical activity develops in a particular part of the brain and often cause abnormal muscle movements in the fingers, arms, or legs.

June’s neurologist prescribed her anti-seizure medications, but the seizures persisted.

“Ultimately, I asked that June be transferred to Boston Children’s,” says Samantha.

Uncovering the reason for June’s seizures

In Boston, June underwent more testing and met Dr. Coral Stredny, a neuroimmunologist and epileptologist in the Neuroimmunology Center and Epilepsy Center. By then she was experiencing seizures as frequently as every few seconds, a problem known as epilepsia partialis continua. Over the next few months, she underwent countless blood tests, MRI scans, EEG monitoring, and genetic testing; tried multiple medications; and was admitted to the hospital five times as her seizures progressively worsened to upwards of 100 seizures a day. The next step was a big one: brain surgery.

Ten days before surgery, a repeat MRI confirmed what was causing her seizures: She had Rasmussen syndrome, a very rare form of chronic brain inflammation. The condition typically affects one side of the brain and can trigger seizures, weakness, and other symptoms. Despite the news, Samantha and her husband, Dan, were grateful for a diagnosis. “It was confirmation that there was a real reason for June’s symptoms,” says Samantha. “We knew we weren’t going crazy.”

A daunting decision

For many kids with Rasmussen syndrome, the only way to stop seizures is to disconnect the affected half of the brain from the unaffected half, a surgical procedure called a hemispherotomy. It was a daunting decision for Samantha and Dan, who worried how the surgery would affect June’s cognitive functioning and personality.

“We knew we had to be on the same page about surgery, because delaying it could ultimately be worse,” says Samantha. “We had to put our trust in the doctors.”

That included not just Dr. Stredny, but also neurosurgeon Dr. Scellig Stone, co-director of Boston Children’s Epilepsy Center. Together, they explained to the Pelletiers what to expect from June’s surgery. She would likely have difficulty functioning on the right side of her body and need to relearn how to walk and talk. The good news: Her young age meant that her still-developing brain had a good chance of adapting over time.

“Drs. Stredny and Stone are like Superwoman and Superman to us,” says Samantha. “We fought to get June the care she needed, and so did they.”

‘Surgery gave her back to us’

Immediately following surgery, June did lose her ability to talk and walk, and experienced cognitive decline. But with ongoing therapies, she’s relearned how to walk, and her speech has improved. More than a year after June’s surgery, she’s still recovering. She will always have weakness on the right side of her body: She lacks fine motor function in her right hand and wears a brace on her right leg. Her right peripheral vision in both eyes was also affected. Reading, math, and other kinds of cognitive function are challenging, but neuropsychologist Katrina Boyer has worked with June and her family to help address those concerns.

There’s been progress, too. “Princess June” is down to just one medication after previously taking five and hasn’t had a seizure since. She returns every few months to see Dr. Stredny and her other loyal subjects at Boston Children’s, who are thrilled with her improvement. And her parents are confident that surgery was the right choice.

“We were so worried that we would lose the June we know after surgery,” says Samantha. “But it’s been the opposite: Surgery gave her back to us.”

Learn more about the Neuroimmunology Center.