Living with Epilepsy and a Metabolic Disorder: 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.

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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 12-year-old who dreams of being a paramedic when he grows up.

His family has relocated to San Diego, and Gabriel remains under Dr. Zupanc’s care, traveling from San Diego to the CHOC Children’s Neuroscience Institute and its level 4 epilepsy center for appointments and annual long-term EEG monitoring.

Gabriel is also under the care of Dr. Jose Abdenur, chief of CHOC’s metabolics disorders division. Gabriel, his younger brother, Nolan, and his parents have all participated in several research studies involving genetic testing for both epilepsy and cerebral folate deficiency.

Recently, Gabriel was weaned off the antiepileptic medication and continues to be seizure-free.

“He has the opportunity to live a full life in good health, thanks to an amazing series of events that led to experienced doctors, correct diagnoses and effective treatment,” Nicole says.

Learn more about the CHOC Epilepsy Program

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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.

dr-maija-steenari-choc-childrens-epileptologist
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.

baby-in-nicu

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.

michelle-and-dr-michael-muhonen

“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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My Journey from CHOC Patient to CHOC Volunteer

Written by Daniel Boucher, cancer survivor and current CHOC volunteer

My name is Daniel, and ever since I can remember, I have always wanted to play football for the University of Notre Dame. I had many motivations: my dad went there, they put academics before football, and I consider it almost a holy place, where people
“surrender to excellence” in their personal life, academics and community. And I had an athletic build too. At 10 years old, I was already 5 feet 2 inches and well on my way to achieving, if not surpassing, my dad’s height of 6 feet 3 inches. I had a competitive, determined drive in any situation. I was only satisfied if I gave my all.

I was ten years old when everything changed. It was a November afternoon and I was doing what I loved most― playing football. Trying to tackle my little brother, I followed the advice so often quoted in sports: keep your eye on the ball. As a consequence, I ran into a tree face first. I came home and threw up once or twice, but otherwise seemed unharmed. I didn’t really lose consciousness, but my dad took me to the emergency room just to be safe. That visit changed my life. It was a slow day, and there was an available CAT scan machine. Figuring that it would be no harm, the doctor ordered a scan. That scan revealed a cancerous mass sitting on the edge of my spinal cord.

Within hours, I was diagnosed with medulloblastoma, a type of cancer that often spreads to other parts of the brain and spinal cord. I met my pediatric neurosurgeon, Dr. William Loudon, and was scheduled for brain surgery. I remember watching “Honey I Shrunk the Kids” before surgery and telling my younger brother (whether out of innocence or the sheer confidence and determination I applied to every situation) that I’d be home in a week. If my parents heard me say this, they never tried to tell me otherwise. My dad later confided in me that this was one time where he truly thought I wasn’t going to make it. I didn’t fulfill my promise to my brother- after surgery the doctors kept me unconscious for two days, giving my brain the best chance to recover from the surgery, and stayed in the hospital for two weeks before I got to go home. It felt so good to be in my own bed again that I slept for 21 hours straight.

My immune system was weak, and when I came down with a fever I had to go back to the hospital. Unfortunately, it turned out to be a symptom of pressure buildup in my spine. I remember that the hospital was getting in the Christmas spirit at that time. There was holiday music playing and I even got to attend a party while I was admitted, but I got to go home in time for Christmas. After the holidays, I started on my cancer’s treatment regimen under the careful eye of my oncologist, Dr. Lilibeth Torno.

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For the entire month of January, Monday through Friday, I would go to the CHOC Outpatient Infusion Center (OPI) cancer center from 8 a.m. – 12 p.m. There, I received chemotherapy treatments delivered intravenously through my portacath, which connected to an artery on my chest and made access to a blood vessel less painful and more practical than a needle in my arm. I usually slept for the first hour of my infusion. Later in the session, my mom would feed me ramen and read me “The BFG” by Ronal Dahl. Eventually my appetite increased so that I went back to eating my favorite food of corn dogs, and socializing to the point of befriending many of the nurses and asking if they had any ketchup. You can’t eat a corndog without ketchup. The nurses were so kind and hated to see me uncomfortable and they would bend over backward to help. A tall nurse named Ron took especially great care of me, and once I had asked for it, would bring me ketchup every day.

After chemotherapy, my mom and I would walk the CHOC hallways to the radiology department. My radiation treatment was twofold, one dose to the tumor site and one dose to the general brain. When I laid on the table to receive radiation, a special mask molded to my face and tattooed pinpoints on my back helped me line up in the exact right spot. Technicians would line me up and then I would lie for what seemed like hours (it was never that long) until they returned to help me up and send me home.

After I completed this first part of my strict but successful treatment plan, I came into the hospital for one weekend every three weeks. John was my favorite nurse and used to play practical jokes on me to cheer me up. I had a tricky vein but he could always get my IV inserted without hurting me. My dad came with me on these trips, and if I was feeling well enough, I got to visit the play room and receive visitors. My siblings would often come and we loved to play on the X-men arcade console. The machine had been modified to work without quarters, and we fully exploited this.

That June, I finished my last chemo treatment. It was a momentous occasion and my family hosted a party to celebrate. There was a bounce house, a slip and slide, and all my favorite foods. We even made a giant finish line banner across our driveway and t-shirts for the family. My favorite part, however, was visiting with my friends and family who had so generously helped with the behind-the-scenes work. Those who watched my younger siblings while mom was with me in the hospital, who made dinners, and especially who prayed unceasingly for my recovery and for my family.

Was I the same person who had hit that tree almost a year prior? No. Did I still have that physical strength to rush up and down a football field tackling other players? No. But the same attributes I’d always had within me in sports had been used to help me through my struggles. I had developed a different kind of toughness, one that is much more important. I may not have been able to run and throw a football down the field, but with my strong active spirit, I would look for new, less physical, adventures.

Recently I was invited to speak at a fundraiser to benefit neurosurgery at CHOC, so that Dr. Loudon and his colleagues can continue helping more kids the way they helped me when I was a patient. The event was a success, but the best part was getting to hang out with Dr. Loudon.

These days, I’m back at CHOC― this time as a volunteer. I get to entertain kids in the same waiting rooms I used to visit as a patient. I read books, play games, do puppet show, and just be their buddy when they need entertainment or a distraction. I also get to host Turtle Talk, an interactive show in the Disneyland Resort lobby of the Bill Holmes Tower, where patients and siblings can interact and have live conversations with Crush, the animated sea turtle from “Finding Nemo.” Sometimes I even run into Dr. Loudon and Dr. Torno. I really appreciated the efforts of CHOC to make me motivated and happy, (not to mention the medical care to recover from my disease), and am now proud to help make your stay as good as mine.

Learn more about neurosurgery at CHOC

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From CHOC Neurosurgery Parent to CHOC Chaplain

The first time Chaplain Steve came to CHOC Children’s, he had just found out his daughter Catie needed an emergency neurosurgery. Now, he’s back for good― as the newest chaplain on CHOC’s spiritual care team.

Chaplain Steve and Choco Bear
Chaplain Steve is the newest member of CHOC’s spiritual care team. But first, he was a CHOC parent.

Ever since pre-school, Catie had experienced difficulties with body awareness, some motor skills, coordination, attentiveness in school and other challenges that didn’t seem to fit her developmental stage.

For five years, Steve and his wife Claudia explored everything: psychiatry, ophthalmology, behavior modification, medication, coaching, neurofeedback and more. Finally, when she was 8 years old they advocated for a referral to a pediatric neurologist, rule out the possibility that there was something wrong with her brain. Even though Catie didn’t show any of the physical symptoms typically associated with a mass in her brain, such as headaches, seizures, fainting or major motor problems, their neurologist ordered an MRI just to be safe.

After five years of trying new therapies and hitting dead ends, Steve and Claudia didn’t know what to expect from Catie’s MRI results, or if they were finally about to get answers.

Catie’s scans revealed that she had a large arachnoid cyst in her brain. The fluid-filled sac measured 10 centimeters, about the size of a baseball.

“I was in shock” Steve says of the moment his wife called him with the results. “I remember exactly where I was and exactly what I was doing at that time. I remember begging my wife, “Please tell me you’re kidding. Please tell me you’re kidding.”

Dr. William Loudon, a pediatric neurosurgeon at CHOC Children’s came to The Julia and George Argyros Emergency Department to meet the family, who was trying to process a lot of information at once.

Dr. William Loudon CHOC pediatric neurosurgeon
Dr. William Loudon, a pediatric neurosurgeon at CHOC Children’s.

“He told us that this was serious, but that they were going to take care of it right away,” Steve recalls. “He explained very clearly what he was going to do to drain the cyst and how he was going to do it.”

Steve and Claudia didn’t understand how a cyst could have been growing for years inside her skull undetected.

“Although Catie hadn’t yet shown physical side effects, she inevitably would have begun to decompensate, which would’ve greatly increased her risk of injury,” said Dr. Loudon.

Since Catie is the oldest child in her family and the first to undergo a major surgery, her parents were naturally worried, about everything from anesthesia to recovery

“Dr. Loudon told us that he would care for our daughter as if she were his own child,” Steve says. “Since working at CHOC, I’ve heard him tell other families in the emergency department the same thing. I know that he means it every time.”

Dr. Loudon performed a series of surgeries to open the cyst and allow it to drain internally, a procedure known as endoscopic cyst fenestration. He made a small cut in her skull and then punctured a tiny hole on either side of the cyst to allow the fluid to drain internally over a period of time.

Dr. Loudon’s commitment to Catie’s safety was deeply appreciated by her parents.

“I saw the way his team acted, and how they interacted with my daughter,” Steve recalls. “Dr. Loudon takes his job very seriously and he goes after the problem. We knew she was in good hands.”

Catie recovering from neurosurgery at CHOC
Catie recovering from neurosurgery at CHOC

With every hospital stay, Steve found that his own natural instinct was to offer support to other parents, whether it be in the waiting room or the pediatric intensive care unit (PICU). By this point, Steve had been a chaplain in a hospice setting for six years.

“Even while we were the ones receiving care, my first reaction was always to rush to other families in need, but since I was there as a parent, there was only so much I could do,” he says.

Now that Chaplain Steve has officially joined the spiritual care team at CHOC, he is able to offer spiritual and emotional support to patients and families.

“I have my own beliefs and faith traditions, but these come secondary to what a family needs in a time of crisis,” Steve says.

Today, Catie is a high school student who loves science, space and kids. She hasn’t been hospitalized since her last surgery, although a few years ago she came back to CHOC with a broken foot that she got “pretending to be a ninja,” as her dad says. She still treasures the Choco bear that she received when she was a patient, but sometimes loans him to her little brother if he’s feeling under the weather.

Chaplain Steve and family
Catie’s family is happy to report that she has not been hospitalized in the last five years.
Learn more about neurosurgery at CHOC

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