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.”

rylee-after-epilepsy-surgery

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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Six-year-old Beats the Odds Thanks to Life-Saving Brain Surgery at CHOC

At just 6 years old, Madison Morrison has earned the nickname “Miracle Maddy” after recovering from life-saving surgery at CHOC Children’s. The spunky girl, who loves listening to music and drawing, defied the odds of survival when the flu caused encephalitis (viral meningitis with life-threatening brain swelling). Within 48 hours of being taken to the Julia and George Argyros Emergency Department at CHOC Children’s Hospital, Maddy underwent emergency brain surgery and was placed in a medically induced coma. For the next two months, her parents remained by her bedside in the pediatric intensive care unit (PICU).

Mike, Maddy’s dad, says February 4 marked the beginning of their journey. He and his wife Angel never imagined a trip to the emergency department for vomiting would end with their youngest child fighting for her life. On the evening of her admission, Maddy’s nurse immediately noticed when her patient became unresponsive and her pupils became fixed and dilated – grave findings suggestive of dangerous brain swelling. Maddy was intubated, placed in a coma and underwent surgery to have a device placed in her brain to measure and help reduce the pressure inside her skull. Given the fixed volume of the skull, there is little room to accommodate for brain swelling. As it does, the pressure in the skull increases. Seizures, strokes and even death can occur if the pressure rises significantly.

The pressure inside Maddy’s skull remained very high. Her physicians feared she would not survive. After all medical interventions failed to control the brain swelling and lower the pressure in her skull, and after a scan revealed Maddy was at imminent risk of death, CHOC neurosurgeon Dr. William Loudon presented Mike and Angel with one final measure:  a  decompressive craniectomy, a surgery in which part of the skull is removed to allow a swelling brain to expand beyond the normal confines of the closed skull.

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Miracle Maddy and her pediatric neurosurgeon, Dr. William Loudon

“Dr. Loudon patiently explained everything, including the risks, and assured us he’d care for Maddy as though she was his own daughter,” recalls Mike. “We were naturally frightened, but we had confidence in him and trusted he would do everything in his control to save her.”

Mike adds, “He kept his word. We will forever be grateful to him.”

Maddy remained in a coma as she continued to heal. Her PICU care team became, in her parents’ words, “the protectors.”

“Without ever hearing her voice or experiencing her outgoing personality, the team stood by Maddy’s side to not only protect her and save her life, but to love her. The people in CHOC’s PICU are special. There’s no way to understand the emotion and bonds created in that unit unless you’ve been there and experienced the passion within the entire team and the love they have for their jobs, their patients and their parents,” shares Mike.

The PICU team rallied with Mike and Angel when Maddy came out of the coma. She still had a tough recovery ahead, but with the help of CHOC’s speech, physical and occupational therapists, she relearned to walk, talk and eat.

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Miracle Maddy recovering after brain surgery at CHOC.

The day Maddy was discharged from the PICU was bittersweet. Her parents were thrilled to be taking her home but sad to say goodbye to the staff who had become part of their family.

Angel explains, “Not only did the people in the PICU save Madison’s life, they were smiling faces to us day in and day out. They were a big part of our encouragement, while sharing in our hope and our worry. I was grateful to leave the PICU but sad to leave so many amazing people.”

Shortly after arriving home, Maddy was living up to her nickname. Walking laps around her home, dancing to her favorite songs and enjoying some Snapchat fun, she was putting her hospital stay behind her and focusing on the joys of childhood. And her CHOC family wouldn’t want it any other way for their “Miracle Maddy.”

Learn more about neurosurgery at CHOC

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Overcoming Epilepsy: Gabriel’s Story

Thick blankets covered the tables in Joe and Nicole Lucak’s New Mexico home to protect their young son who was living with epilepsy. The couple placed a soft cloth over every surface to protect their son Gabriel when he’d suffer a seizure and fall.

On bad days, Gabriel would experience up to 50 seizures. On a good day, it might be just 10. On any day though, this reality was devastating for his parents.

“It was like living out a surreal nightmare,” Nicole says.

Gabriel had been a healthy, normally developing child until age 3, when he experienced his first tonic-clonic seizure, the type of seizure typically depicted in movies when a person first loses consciousness, then falls to the ground and begins jerking and shaking.

Searching for answers

Gabriel was initially diagnosed at his local hospital with myoclonic-astatic epilepsy, also known as Doose syndrome. His seizures were difficult to control, and doctors attempted many different treatments, including eight months on a special ketogenic diet. During this time, Gabriel was hospitalized numerous times to modify his medication and control his seizures.

A low point for the Lucak family came about nine months after the seizures began. While hospitalized for respiratory syncytial virus, Gabriel’s seizures increased significantly. An electroencephalogram (EEG) recorded seizures occurring about once a minute and a slowing brain wave frequency. Magnetic resonance imaging (MRI) revealed decreased brain volume. Gabriel’s health was rapidly deteriorating.

Joe and Nicole desperately began looking elsewhere for help, and found a beacon of hope nearly 1,400 miles away in Dr. Mary Zupanc, a CHOC Children’s pediatric neurologist and one of the nation’s leading epileptologists, who was practicing in Wisconsin at the time.

Under Dr. Zupanc’s care, Gabriel began a new treatment program. He stopped following the ketogenic diet and began taking a new antiepileptic medication. He underwent a two-week long-term video EEG monitoring study, which revealed he was experiencing a fifth type of seizure during sleep.

adolescent-living-with-epilepsy

A new diagnosis

Dr. Zupanc then knew that Gabriel’s epilepsy had evolved into a more severe form called Lennox-Gastaut syndrome (LGS). This rare type of epilepsy is marked by seizures that are difficult to control, and typically persist through adulthood.

She also diagnosed Gabriel with cerebral folate deficiency, a rare metabolic condition, following a spinal tap and extensive testing on his cerebral spinal fluid. He immediately began taking a folinic acid supplement and following a strict dairy-free diet.

Under this new treatment plan, Gabriel was seizure-free within two months. A second spinal tap showed a normal level of folate, and another MRI had normal results. The Lucaks were thrilled.

“Gabriel could have suffered severe brain damage, or he might not have survived at all,” Nicole says. “That’s how critical it was for us to have found Dr. Zupanc when we did.”

A bright future

Today, Gabriel is an intelligent, creative and artistic 13-year-old who dreams of being a paramedic when he grows up.

After regularly traveling from San Diego, where the family now lives, to the CHOC Children’s Neuroscience Institute and its level 4 epilepsy center for appointments and follow-ups, Gabriel has had several normal EEG studies and has successfully weaned off his anti-epileptic medication with no seizures.

Because of this, Dr. Zupanc believes Gabriel’s epilepsy is in remission. Now, he no longer needs to always carry emergency medication – a development that is life-changing for Gabriel and his family.

“All restrictions and seizure precautions have been lifted,” Nicole says. “So, Gabe looks forward to driver’s education in the near future. He will no longer need to have long-term video EEG monitoring performed each year. No more medical ID necklace. No more Diastat in my purse. No more Diastat kit in the school’s health room.”

Gabriel is also under the care of Dr. Jose Abdenur, chief of CHOC’s metabolics disorders division. Gabriel, his younger brother and his parents have all participated in several research studies involving genetic testing for both epilepsy and cerebral folate deficiency. Results of the epilepsy study found no predisposition to epilepsy.

Learn more about the CHOC Epilepsy Program

Related posts:

  • Restoring a Happy Childhood: Rylee’s Epilepsy Journey
    Despite her happy disposition, Rylee had a big roadblock: frequent disruptive seizures. Six months past her epilepsy surgery, she hasn’t had a single seizure.
  • What Causes Seizures?
    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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What Causes Seizures?

Seizures are mysterious. They cause the body to act strangely. They’re hard to predict and they can’t be seen, except with special tests of the brain. So, what causes seizures?

As a neurologist with special training in epilepsy, CHOC Children’s epileptologist Dr. Maija-Riikka Steenari has dedicated her career to understanding seizures and epilepsy, which affects 470,000 children nationwide. In recognition of National Epilepsy Awareness Month, she provides a look into the mystery of seizures.

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Dr. Maija Steenari answers frequently asked questions related to what causes seizures.

What happens in the brain during a seizure?

“Brain cells, called neurons, communicate by electrical activity. If there is a dysfunction, the brain can get overexcited. The electrical activity in the brain surges, causing the neurons to get out of control. The surge of electricity can start in one spot and spread, called a focal onset seizure, or it can happen throughout the brain, called a generalized seizure.”

What does a seizure look like?

“A seizure can manifest in many different ways. When a family comes to us, we ask them what they saw when their child had a seizure. What happened first? Was one arm stiff, were both arms jerking, did the child fall down, did their head turn to one side, were they unresponsive? It’s very helpful if the family has video of a seizure happening. A seizure can make you see, feel and taste weird things. We will ask the child, do you remember having a seizure or not? All these details help us determine if the seizure started from one focus and from which area of the brain, or if it was generalized onset.”

What causes seizures?

“Focal onset seizures can be caused by multiple different things, for example a malformation in the brain or an injury to the brain. Other causes could be a genetic or metabolic disorder which affects how the brain works, or causes a buildup of toxic materials, or is preventing the brain from getting what it needs. Many seizures or epilepsies are considered idiopathic, which means they have no known cause. We are learning more about them and why they happen, and as we do more testing, we find explanations to previous mysteries, often caused by genetic mutations.”

What can tests tell you about seizures?

“We always start with an EEG. That looks at the electrical activity in the brain. We can often see epileptiform discharges on the EEG, which tells us a patient has a tendency of having seizures. I often describe these discharges as sparks of electrical activity. I like to use the lawn analogy when I am talking to families. Think of a brain that has a tendency of having seizures as dry grass. Epileptiform discharges, or sparks, can easily cause a fire (I.e. seizure) on the dry grass. We may also use an MRI to look at the structure of the brain, to look for any abnormalities like a cortical malformation, tumor, or scar tissue from an infection or brain injury such as a stroke.”

How do you treat seizures?

“If the seizure was unprovoked, and after the initial evaluation we have a high suspicion that seizure will reoccur, we recommend starting a medication to treat the seizures. Referring back to the lawn analogy, medication can be considered as watering the lawn, to make the environment more difficult for the sparks to cause more fires. About 60-70 percent of the time, the first medication works when picked correctly. If the seizures continue despite appropriate dosing, we often try a second one. With adding a second medication, the chance of being seizure free is much less likely and If they fail two medications, we need to consider other treatment options, for example epilepsy surgery, diet treatments or vagal nerve stimulator.”

When considering epilepsy surgery, how do you know what part of the brain to operate on?

“Prior to surgery, we gather a lot of information about the seizures, the cause of the child’s epilepsy and the brain structure. We capture typical seizures during an inpatient video EEG study, and we will often lower medication to encourage a seizure to happen. We use detailed imaging techniques to look at the brain structure and how the brain uses energy, to see if we can pinpoint a focal seizure onset zone. We will also do neuropsychological testing, to understand if a child has difficulties in certain brain functions. We will discuss the results with our multidisciplinary epilepsy team, and evaluate if the child could benefit from epilepsy surgery.”

Is everyone’s brain mapped the same?

“No. Most brains are generally mapped the same but it’s not always the case, and sometimes the cause of the seizure has also caused the brain to map differently. A child’s brain is very plastic, and it has adapted around the injury or abnormality. Seizures cause disruption of typical brain development and the more seizures you have and the longer you have them, at some point your brain has learned to have seizures and they are much harder to control. Disruption of normal brain networks can also cause learning difficulties and developmental delays. That’s why it’s important to treat epilepsy as early as possible in children.”

Learn more about the CHOC Epilepsy Program

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Microcephaly and Encephalocele: Michelle’s Story

By Allyson Duran, mother of CHOC patient Michelle

When I was 21 weeks pregnant with our little girl, my fiancé and I received devastating news. Michelle’s head was not measuring large enough for how far along I was in my pregnancy. We were scared and didn’t know what this would mean for our little girl. My OB-GYN referred us to a high-risk maternal-fetal specialist, where we received a shocking diagnosis: our baby had microcephaly, a rare condition where a child’s brain does not fully develop, resulting in an abnormally small head size. They also diagnosed her with another condition called encephalocele, where brain tissue protrudes out to the skin from an abnormal opening in the skull. Although very rare – only 340 babies in the U.S. are born with this each year- this is one of the most common neural tube defects, a birth defect involving incomplete development of the brain and spinal cord.

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During the rest of my pregnancy it was a little emotional because we didn’t know if Michelle would survive the pregnancy or even worse, pass away shortly after birth. We didn’t know if she would come out breathing or what to expect. I had ultrasounds every week to monitor the growth of the encephalocele. When I was six months pregnant, my high-risk OB-GYN sent me to meet with Dr. Michael Muhonen, a pediatric neurosurgeon at CHOC. I didn’t know what to expect, but I couldn’t handle any more bad news. He told me the mass growing outside of her brain could either be tissue or fluid, but they wouldn’t be able to tell for sure until after she was born.

He told us that the prenatal ultrasounds showed a giant encephalocele with severe concerning brain anomalies. I was terrified about what was going to happen to my baby, but I felt reassured that she would be in good hands.

Michelle was born October 10, 2016 at 10:34 a.m. at University of California, Irvine. She thankfully came out breathing on her own, and my fiancé and I were an emotional wreck. I couldn’t hold her or kiss her right away because she was whisked away to the neonatal intensive care unit (NICU). Four long hours later, I was finally able to see her and give her a kiss, but I couldn’t hold her yet.

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Dr. Muhonen came to UCI to see Michelle and review her MRI so they could get a better idea of what was inside her encephalocele. While we waited for the results in the NICU, Michelle stopped breathing right in front of our eyes. The NICU nurses rushed to her aide and resuscitated her. She started breathing again on her own, but I can’t begin to describe how scary those two minutes were. My heart broke and fell into my stomach. At two days old, her condition was declining, but I knew in my heart that she was going to be ok.

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After that, a nurse approached us and handed us a little sack and said, “Someone who heard about your situation wanted to give this to you and remain anonymous.” As we opened the little sack we pulled out a key that said HOPE on it. I broke down in happy tears.

Michelle’s MRI results came back literally seconds later. Dr. Muhonen said that he had never seen an encephalocele this big before, but that it was mostly made up of brain fluid, and he was confident that he could successfully operate on her. Later that day, Michelle was transferred via ambulance to CHOC, where she would be prepped for surgery.

The next day, we put our three-day-old baby in the hands of Dr. Muhonen and prayed that her surgery would go well. Three hours later, he came out of the operating room to where we had been anxiously waiting in the lobby, and told us that the surgery gone well.

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“We were able to successfully put the exposed brain back into the skull and remove the outer sac of the encephalocele. The post-operative results were superb, and Michelle had no difficulties with the complicated surgery,” Dr. Muhonen told us.

Michelle stayed at CHOC in the NICU for three weeks to recover and get strong enough to finally go home. During that time, my fiancé and I stayed just down the street at Ronald McDonald House. When our baby was hospitalized, we were grateful to have an incredible team of nurses caring for her. This was my first baby and I had never been through anything like this before, and Michelle’s nurses were very patient with me and explained everything. They taught me things like how to feed her. They spent so much time with her and knew tiny little nuances about her. They were there to help and support not only their patient, but her parents as well.

Our favorite nurse, Maria, told me that one of her favorite parts of being a NICU nurse is empowering parents so that they can eventually play the role of their baby’s biggest advocate.

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Michelle’s favorite nurse, Maria, feeding her a bottle in the NICU.

For a while, we had weekly appointments with Dr. Muhonen to monitor the shunt (a device that relieves pressure on the brain) he implanted a few months after surgery. During surgery. Michelle was doing so well that our appointments were changed to once every three months!

Dr. Muhonen told us, “While Michelle is still growing, and has challenges ahead, I am optimistic that she will love and enjoy life, bring joy to her family, and will always be an inspiration to others.”

Today, Michelle is a happy baby. We are busy with physical therapy, occupational therapy, and infant stimulation appointments, but Michelle laughs and smiles all the time. She loves when people pretend to sneeze. She loves to jump. She is trying to walk, but she doesn’t like to crawl.

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Earlier this year, we participated in CHOC Walk in the Park in honor of our daughter, and to show our support for the wonderful neurosurgeon and all the other CHOC staff members who helped save her life! We are forever grateful and feel blessed for this wonderful hospital for keeping our family whole.

michelle-and-family-choc-walk

Learn more about neurosurgery at CHOC

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