Restoring a Happy Childhood: Rylee’s Epilepsy Journey

A teacher years ago bestowed an apt nickname on Rylee Christe: Smiley Rylee.

“She’s a very social, happy child,” says her mom, Sara. “She got that name from her preschool teacher. It just stuck forever. She’s always smiling.”

But despite her happy disposition, Rylee had a big roadblock: frequent disruptive seizures. And Sara wanted nothing more for her young daughter than to enjoy her childhood without this burden.

The problem

In 2013, a pediatrician diagnosed a 4-year-old Rylee with complex partial seizures. Suddenly, Rylee’s mouth would twitch and cause saliva to bubble. She’d be unresponsive to questions. While the family awaited an appointment with a specialist, the seizures quickly increased in frequency, sometimes up to 30 a day.

One day, Sara knew she couldn’t wait any longer and took Rylee to an emergency department. An electroencephalogram, or EEG, detected abnormal brain activity, confirming the pediatrician’s diagnosis of complex partial seizures. Imaging also revealed a lesion on Rylee’s brain.

An odyssey to stop the seizures began. Doctors ordered multiple tests and prescribed several types of medications. But the seizures continued. They moved to another hospital and found some temporary relief, but the seizures began again.

Finding a guide

The Christe family’s next stop was CHOC Children’s, where they saw Dr. Mary Zupanc, medical director of neurology at the CHOC Children’s Neuroscience Institute and director of CHOC’s Pediatric Comprehensive Epilepsy Program.

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Dr. Mary Zupanc, medical director of neurology at the CHOC Children’s Neuroscience Institute and director of CHOC’s Pediatric Comprehensive Epilepsy Program

Dr. Zupanc, who has worked with thousands of patients with epilepsy throughout her career, understood exactly how distressing an epilepsy diagnosis can be for families and how debilitating seizures can be.

“We had been through the woodwork trying to get to where we are now, to find the amazing doctor that we needed,” Sara says.

A plan at last

First, Dr. Zupanc ordered long-term video EEG monitoring of Rylee’s brain activity. Another round of imaging revealed another lesion, this time in the left frontal lobe.

Dr. Zupanc then worked to get Rylee’s seizures under control, trying two medications previous care teams hadn’t. After the seizures reduced to about one or two a night, the Christe family headed home.

Next, Dr. Zupanc set out to stop the seizures for good. It was clear though that Rylee would need more than medication. Dr. Zupanc raised the prospect of brain surgery.

“At first, I was hesitant to move forward because any mention of surgery for your child is terrifying,” Sara says. “But brain surgery? Come on.”

But Dr. Zupanc explained to the family that evidence shows more than 70 percent of patients with seizures may benefit from surgical intervention; that children respond and recover well from surgery because of the plasticity of their young brains; and that surgery should be considered sooner than later.

Taking action

The family agreed to explore the option, moving forward with subsequent testing, exams and lab work needed to determine if Rylee was indeed a surgical candidate. After reviewing the results, a team of CHOC specialists agreed that she would benefit from surgery.

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Next for the Christes was a brain mapping session at CHOC Children’s Hospital. During the procedure, Dr. Joffre Olaya, a pediatric neurosurgeon who is specially trained in epilepsy surgery, opened Rylee’s skull and placed an electrical grid on her brain. Later, Dr. Zupanc would record Rylee’s seizures to pinpoint the seizure focus. She also stimulated the electrodes on the grid to determine the location of Rylee’s motor area and speech and language center in the brain.

Three hours of testing confirmed Dr. Zupanc’s suspicion that Rylee’s seizures were originating from the left frontal lobe. The physicians were confident if Dr. Olaya removed the lesion there, the seizures would stop.

The procedure wasn’t without risks though. Drs. Zupanc and Olaya cautioned Sara that the surgery could leave her daughter with some impairments like a facial droop, speech problems and even some paralysis.

Sara and Rylee weighed the risks with the benefits of a childhood without seizures and decided to move forward. Three days later, she underwent a successful surgery with no complications.

Back to being a kid

After four days of recovery at the hospital, Rylee and Sara headed home. The next week, Rylee returned to school on an adjusted schedule and was begging her mother to use her roller blades and ride her bicycle.

Now, about six months past her surgery, Rylee, 9, hasn’t had a single seizure. She remains on medication, but it’s likely her dosing may decrease after a few years.

Life for the Christes has changed dramatically.

“Quality of life has improved so much for the whole family,” Sara says. “I can sleep at night. It feels like I haven’t slept in five years.”

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And Rylee, who will likely remain on medication for the rest of her life with close following by her physicians, is in fourth grade and back to enjoying her childhood.

“She loves to dance and sing, and she can remember the words to every song she sings,” Sara says. “She loves to swim and ride bikes, and her favorite thing in the world is mermaids.”

Learn more about the CHOC Epilepsy Program

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    Seizures are mysterious. They’re hard to predict and they can’t be seen, except with special tests of the brain. So, what causes seizures?
  • What Parents Should Know About Infantile Spasms
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One Family’s Story of How CHOC Doctors Became Family

Even after six miscarriages, Gladys Salazar and Paul Gomez kept hoping and believing that they would be blessed with a baby. At long last, the dream came true—twice—with the births of Bethany and then Tiffany. “Two miracle babies,” says Gladys.

Bethany has been battling several rare metabolic and mitochondrial disorders since birth, and Gladys and Paul are grateful for the care she receives at CHOC Children’s. Tiffany was cared for at CHOC as well. Unfortunately, her life was cut short by brain cancer. Still, her parents are grateful for the doctors who extended Tiffany’s life and all of the compassionate people at CHOC who supported them through a painful experience.

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Tiffany was affectionately known as “Tiffers.”

Tiffany was initially treated at another hospital, but her tumor didn’t respond to treatment. When it appeared that Tiffany was out of options, Gladys and Paul decided to “focus on making memories with her.” Through the Make-A-Wish Foundation, the family enjoyed outings to Knott’s Berry Farm and Disneyland.

On one of those outings, Tiffany’s color changed, she couldn’t hold anything down and had trouble breathing. An ambulance was called, and when it arrived Gladys went with her instincts and instructed the driver to take them to CHOC. “We made up our minds to let God do what needs to be done,” says Gladys.

At CHOC, Tiffany was examined by pediatric neurosurgeon Dr. Joffre Olaya, who determined that the tumor was growing and causing pressure. He recommended surgery to debulk the tumor. “I was crying,” recalls Gladys, “because I didn’t think it was an option. He said there were risks but that it could be done. The other hospital told us it was out of the picture.”

The difficult operation took five and a half hours. “Dr. Olaya told me he really had to fight to keep my daughter alive,” says Gladys. “He did an amazing job.”

Tiffany spent about a month recuperating in the pediatric intensive care unit (PICU). She spent four days with heightened breathing. “One of the doctors watched her breathe and said she was a real fighter; strongest diaphragm he’d ever seen,” says Gladys.

Sadly, however, complications developed. “Tiffany was in pain, and couldn’t tell us,” Gladys says. “We met with the palliative care team and decided to take her home. We got to celebrate her third birthday with a fiesta. There were Mariachis and the whole thing. We told everyone, ‘Come celebrate the lives of our daughters.’ We also participated in the CHOC Walk in the Park to help CHOC Children’s. We are so thankful that we got to spend six more months with our little Tiffers. It was all thanks to Dr. Olaya, thanks to CHOC, and thanks to God who brought us here.”

Tiffany was admitted to CHOC one last time, where she passed away peacefully. “But it was hard. After six miscarriages, you think, now this, too?” says Gladys. “But Paul said, ‘God gave us our daughters; we can’t be disappointed.’”

“Tiffany was an angel; she brought joy to countless people. I’m so glad we got the opportunity to meet her. She changed me in many ways. Cancer makes you see things differently. Tiffany’s in good hands now; she’s not hurting anymore.”

Gladys thinks of the team at CHOC as family. “We’ve been to a few hospitals before and there’s no comparison to CHOC,” she says. “Just the love and compassion they show towards the

patients. The doctors, the nurses, the social workers, the chaplain…they all care for you so much. Even the people who do the cleaning, and security—everyone is so polite. There was one nurse who was a mom and grandma, and she was so comforting―she felt like a mother to me. For her, it isn’t just a job, she totally loves what she does. Another nurse, near the end, put a little beanie on Tiffany’s head to help keep her warm. I was so touched by her kindness. I am really grateful for coming here.”

The Gomez family continues to rely on CHOC—Bethany has been hospitalized twice since Tiffany passed away. “One doctor said to me, ‘I’m sorry to you have to go through this now,’” said Gladys. “It was so touching. They know us very well; not like a number, like family.”

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Gladys, Bethany and Paul

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CHOC at Forefront of Treating Rare Genetic Condition

Just two weeks after losing their 6-year-old son to a rare and fatal genetic brain condition, Bekah and Danny Bowman began the first of many cross-country trips with their 3-year-old son in hopes that a new treatment would spare the younger boy from the same fate as his brother.

Ely was diagnosed with CLN2 disease, also known as late infantile Batten disease, shortly after his older brother, Titus, was found to have the same condition following nearly two years of symptoms. Batten disease typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.

Beginning to show a speech delay, Ely would travel with his parents from Orange County to Columbus, Ohio, every 10 days to participate in a clinical trial wherein he would receive an infusion of a medicine that researchers believed would slow the disease’s progression.

But now, the Bowmans need only to drive a few miles to CHOC Children’s Hospital for this critical treatment. CHOC has become one of the first hospitals in the United States to offer Brineura, which the U.S. Food and Drug Administration approved in April as the first and only treatment for Batten disease.

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Ely at CHOC for Batten disease treatment.

Over a three-year period, patients like Ely who were treated during the clinical trials showed no progression of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.

CHOC has been fast tracked to provide this novel new therapy commercially, which requires making a reservoir in the brain to give an infusion every two weeks.

Brineura’s availability at CHOC is also a game changer for Maya James.

Diagnosed with an atypical form of Batten disease about four years ago, the 14-year-old had also been traveling regularly to Ohio to participate in the clinical trial.

While the medicine has been shown to slow the progression of Batten’s devastating consequences, Suzette, Maya’s mother, says the treatments have helped her daughter improve her balance and walking. Maya continues to ride a bicycle and rock climb.

The treatment has given the James family hope.

“We’re so thankful to have this opportunity,” Suzette says. “Before, we had nothing. We only had, ‘Your child is going to die and we can’t tell you when. And she’s going to lose every function she has and we can’t tell you when.’ It’s truly groundbreaking what CHOC is bringing for patients with neurological conditions. This is an opportunity for people with other similar diseases to have hope.”

Maggie Morales was preparing to bring her daughter Mia to Ohio for treatment when she got a call from CHOC about Brineura’s availability.

Now, Mia, 5, has completed more than six infusions of the medicine, and her family has found a sliver of light following a devastating diagnosis last year.

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Mia receiving treatment for Batten disease at CHOC.

“It’s amazing that there’s treatment because when we first got the diagnosis, there was nothing to do but take your child home and wait for it to happen,” Maggie says. “Hopefully along the way, a cure comes along. “

Bringing Brineura to CHOC is the product of three years of work by Dr. Raymond Wang, a metabolic specialist who treats Ely, Maya and Mia.

Dr. Wang works closely with neurosurgeon Dr. Joffre Olaya to administer the medicine. Each patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into their brains.

In a sterile procedure every 14 days, Dr. Olaya and a team of highly trained nurses insert a needle into the reservoir to administer the medication. The infusion lasts four hours, and after four hours of observation, the patients can go home.

“This is huge,” Dr. Wang says. “You’re taking a progressive and fatal disease and stopping it. Having seen how heartbreaking it is for families to see the child they know get slowly robbed from them, the fact that we can offer these families hope, is tremendous. Something like this is the very reason I went into medicine and specialized in metabolic disorders: to provide hope to families affected by rare disorders such as late infantile Batten disease.”

As he receives his infusion, Ely wears medical scrubs with “Dr. Ely” embroidered across the chest and watches videos on an iPad. Flashing across the tablet’s screen are home movies of Ely as a toddler playing with his late older brother.

The Bowman family will never get back those days, but this life-saving treatment at CHOC is an opportunity to halt a disease that has ravaged their family.

“For Ely to be home and have consistency and we can still have some fun is wonderful,” Bekah says. “We can see him thriving.”

Learn more about metabolic disorders treatment at CHOC

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