“Princess June” reigns supreme over Rasmussen syndrome

What do you name a “girly” 5-year-old who adores dolls and frilly nightgowns? If you happen to’re one among June Pelletier’s nurses at Boston Kids’s Hospital, the reply is “Princess June,” after all.

Whereas Her Highness would a lot choose to reign over her dad and mom and three siblings at dwelling in Connecticut, she’s no stranger to the hospital. In reality, she’s been an everyday customer since final 12 months — when she underwent mind surgical procedure to deal with a uncommon neuroimmunologic dysfunction known as Rasmussen syndrome.

“It was so scary to need to make the choice about surgical procedure,” admits June’s mom, Samantha. “We wouldn’t have felt practically as snug with out our Boston Kids’s staff.”

Way more than a ‘pinched nerve’

Till just lately, essentially the most daunting medical expertise June had encountered was getting a flu shot. So when her dad and mom seen in December 2023 that she had developed what gave the impression to be a muscle spasm in her proper arm, they weren’t too fearful at first. Her pediatrician suspected the trigger was short-term: a pinched nerve.

But when the spasms persevered, the Pelletiers introduced June to their native emergency room. Simply days later, additional testing revealed that the spasms have been truly focal seizures. A majority of these seizures happen when irregular electrical exercise develops in a specific a part of the mind and infrequently trigger irregular muscle actions within the fingers, arms, or legs.

June’s neurologist prescribed her anti-seizure drugs, however the seizures persevered.

“In the end, I requested that June be transferred to Boston Kids’s,” says Samantha.

Uncovering the rationale for June’s seizures

In Boston, June underwent extra testing and met Dr. Coral Stredny, a neuroimmunologist and epileptologist within the Neuroimmunology Center and Epilepsy Center. By then she was experiencing seizures as ceaselessly as each few seconds, an issue referred to as epilepsia partialis continua. Over the subsequent few months, she underwent numerous blood exams, MRI scans, EEG monitoring, and genetic testing; tried a number of drugs; and was admitted to the hospital 5 occasions as her seizures progressively worsened to upwards of 100 seizures a day. The following step was an enormous one: mind surgical procedure.

Ten days earlier than surgical procedure, a repeat MRI confirmed what was making her seizures: She had Rasmussen syndrome, a really uncommon type of continual mind irritation. The situation usually impacts one facet of the mind and might set off seizures, weak point, and different signs. Regardless of the information, Samantha and her husband, Dan, have been grateful for a analysis. “It was affirmation that there was an actual purpose for June’s signs,” says Samantha. “We knew we weren’t going loopy.”

A frightening resolution

For a lot of youngsters with Rasmussen syndrome, the one technique to cease seizures is to disconnect the affected half of the mind from the unaffected half, a surgical process known as a hemispherotomy. It was a frightening resolution for Samantha and Dan, who fearful how the surgical procedure would have an effect on June’s cognitive functioning and persona.

“We knew we needed to be on the identical web page about surgical procedure, as a result of delaying it might finally be worse,” says Samantha. “We needed to put our belief within the docs.”

That included not simply Dr. Stredny, but in addition neurosurgeon Dr. Scellig Stone, co-director of Boston Kids’s Epilepsy Center. Collectively, they defined to the Pelletiers what to anticipate from June’s surgical procedure. She would seemingly have issue performing on the proper facet of her physique and must relearn the best way to stroll and speak. The excellent news: Her younger age meant that her still-developing mind had an excellent probability 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 wanted, and so did they.”

‘Surgical procedure gave her again to us’

Instantly following surgical procedure, June did lose her means to speak and stroll, and skilled cognitive decline. However with ongoing therapies, she’s relearned the best way to stroll, and her speech has improved. Greater than a 12 months after June’s surgical procedure, she’s nonetheless recovering. She is going to all the time have weak point on the proper facet of her physique: She lacks wonderful motor operate in her proper hand and wears a brace on her proper leg. Her proper peripheral imaginative and prescient in each eyes was additionally affected. Studying, math, and different kinds of cognitive operate are difficult, however neuropsychologist Katrina Boyer has labored with June and her household to assist tackle these considerations.

There’s been progress, too. “Princess June” is all the way down to only one medicine after beforehand taking 5 and hasn’t had a seizure since. She returns each few months to see Dr. Stredny and her different loyal topics at Boston Kids’s, who’re thrilled along with her enchancment. And her dad and mom are assured that surgical procedure was the proper alternative.

“We have been so fearful that we’d lose the June we all know after surgical procedure,” says Samantha. “However it’s been the other: Surgical procedure gave her again to us.”

Study extra in regards to the Neuroimmunology Center.