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

Related posts:

  • 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
    With Infantile Spasms Awareness Week recognized Dec. 1 through 7, we spoke with a CHOC Children’s neurologist about this type of epilepsy that occurs in young infants typically between ages ...
  • After Years of Seizures, Overcoming Epilepsy
    Deena Flores has her sights set on a big party next spring for her daughter, Mareena. It’s not for her birthday, but rather an anniversary of sorts. By May 2017, Mareena ...

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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What Parents Should Know About Infantile Spasms

With Infantile Spasms Awareness Week recognized Dec. 1 through 7, we spoke with a CHOC Children’s neurologist about this type of epilepsy that occurs in young infants typically between ages 3 and 8 months.

Infantile spasms should be considered a medical emergency due to the potentially devastating consequences on the developing brain, Dr. Mary Zupanc, chair of neurology at CHOC, says. Immediate treatment is critical because many children with infantile spasms go on to develop other forms of epilepsy.

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Dr. Mary Zupanc, chair of neurology at CHOC Children’s, treats patients with infantile spasms

“A developing brain undergoing an ‘epileptic storm’ essentially becomes programmed for ongoing seizures and cognitive/motor delays,” she says.

Here’s what parents should look for when potentially identifying infantile spasms:

  • Infantile spasms often happen in clusters, with each spasm occurring every five to 10 seconds over a period of three to 10 minutes or longer
  • Though there is almost always a cluster of spasms in the morning when the child awakens from sleep, infantile spasms can occur at any time during the day or night

If infantile spasms are suspected, parents should seek a referral to a pediatric neurologist immediately. CHOC neurologists admit these children urgently to the hospital for long-term video electroencephalogram (EEG) monitoring to confirm the diagnosis.

If infantile spasms are confirmed, the first line of treatment employed by CHOC neurologists is a high-dose adrenocorticotropic hormone, or ACTH. The course of therapy is about six weeks, and the treatment is administered by injection. Because parents are often initially afraid to inject their baby, CHOC neurologists and nurses work closely with families to help them become comfortable with the process before heading home.

The effectiveness of ACTH may be as high as 85 percent, and the treatment has better success rates if started within four to six weeks of seizure onset. Seizure control and a normalized EEG reading mark a successful therapy.

Children undergoing ACTH might have some side effects including high blood pressure, increased appetite and weight gain, elevated sugar in the blood, temporary suppression of the immune system, and sometimes an upset stomach. All side effects are monitored during treatment and disappear at its conclusion.

The causes of infantile spasms vary. Some children may have tuberous sclerosis, a multisystem disorder; abnormalities in the brain’s formation; stroke; an infection such as meningitis or encephalitis; trauma; or genetic disorders such as Down syndrome or defects in the metabolism of proteins, sugars, and fats.

Learn more about CHOC Children’s Neuroscience Institute.

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After Years of Seizures, Overcoming Epilepsy

Deena Flores has her sights set on a big party next spring for her daughter, Mareena.

It’s not for her birthday, but rather an anniversary of sorts. By May 2017, Mareena will have lived without seizures longer than she endured them.

It’s a milestone that once seemed unreachable for the Flores family, who finally got relief from years of seizures when they found help from CHOC Children’s Neuroscience Institute.

“The seizures flipped our family. We didn’t go anywhere. We wouldn’t want to leave her with anyone. It was a deep dark hole for a few years,” Deena says. “To see her flourish and open her wings and experience life now is amazing.”

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Mareena is flourishing after epilepsy surgery.

Now 9, Mareena began experiencing seizures at around 10 months old. After a normal birth and infancy, she suddenly started rolling her eyes backward and going limp.

For years, the family went from hospital to hospital and doctor to doctor, looking for an explanation.  Walking, talking and developing normally, Mareena would grow out of it, physicians told the family.

By age 4, Mareena was enduring up to 20 seizures a day, mostly linked to sleep. Medications were not working. Deena and her husband would take turns sleeping in their daughter’s room, desperate to record every seizure in hopes of finding a pattern.

Mareena’s parents reached their breaking point in fall 2011. One morning while eating breakfast, Mareena seized, fell from her chair and hit her head on the tile floor. That was enough.  Mareena needed help badly, and they turned to Dr. Mary Zupanc  and CHOC’s comprehensive epilepsy program.

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Dr. Mary Zupanc, director of the comprehensive epilepsy program and chair of neurology at CHOC Children’s

“Within the first five minutes of the appointment, Dr. Zupanc told us that Mareena’s medication wasn’t working, and because epilepsy is a progressive disease, it was critical that we find a new solution quickly,” Deena recalled.

Mareena began undergoing extensive testing, including long-term video electroencephalogram (EEG) monitoring to determine seizure type and seizure frequency. During that time, Dr. Zupanc first broached the subject of surgical intervention to help Mareena.

“The idea of brain surgery was scary,” Deena recalled. “But at the same time, it was a relief, especially after all the years we lost while trying to convince doctors that something was wrong”.

In May 2012, the family began the process for surgical intervention, including an MRI scan of the brain to look for subtle structural changes in the brain and a PET scan, which looks at glucose metabolism in the brain.

Mareena’s case was then reviewed by a group of CHOC physicians. The physicians, including Dr. Zupanc, were in agreement that Mareena should have epilepsy surgery.  However, in order to identify the exact seizure focus, invasive EEG monitoring was required. This means that electrodes had to be placed directly on the surface of the brain. Over a series of days, Dr. Zupanc and the other epilepsy specialists determined that the seizures were coming from the brain’s left temporal lobe. Next, surgeons removed that portion of the brain.

Mareena has been seizure-free ever since. She still takes one low-dose of antiepileptic medication, but her visits with Dr. Zupanc have reduced significantly. She no longer requires long-term video EEG monitoring or other studies.

Mareena is now headed for third grade.  Though she does have some mild cognitive delays—due to the underlying cause of her epilepsy and her prior high seizure frequency, she is thriving and doing very well. Deena says people are shocked when they learn about Mareena’s history.

“She’s a walking miracle,” Deena says.

Learn more about epilepsy surgery.

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Seizure-Free at Five, Thanks to Epilepsy Surgery and ROSA Robot

Five-year-old Ian Higginbotham recently enjoyed his best summer yet. He experienced his first family vacation. He learned to swim and ride a bike. He got himself ready for kindergarten. These are milestones most kids and parents, alike, eagerly welcome. But there was a time when Ian’s parents weren’t certain their son, who was born seemingly healthy, would enjoy such happy pastimes.

Ian began talking and walking in his sleep as a toddler. When the episodes, including night terrors, increased in frequency and severity, his mom Lisa made an appointment with the pediatrician. One day, Lisa knew something just wasn’t right and didn’t want to wait for the appointment to get Ian checked out. She and her husband Derek took him to the Julia and George Argyros Emergency Department at CHOC Children’s Hospital. To her surprise, doctors diagnosed her son with epilepsy.   Ian’s “sleepwalking” and “night terrors” were actually seizures.

The family was referred to CHOC’s comprehensive epilepsy program. A national leader in pediatric epilepsy care, CHOC’s comprehensive epilepsy program offers cutting-edge diagnostics, innovative medical approaches and advanced surgical interventions. CHOC was the first children’s hospital in the state to be named a Level 4 epilepsy center by the National Association of Epilepsy Centers, signifying the highest-level medical and surgical evaluation and treatment for patients with complex epilepsy.

Ian’s neurologist Dr. Andrew Mower suspected he was experiencing complex partial seizures, which was confirmed by video EEG monitoring. Complex partial seizures start in a small area of the temporal or frontal lobe of the brain, and quickly involve the areas of the brain affecting alertness and awareness. The pattern of Ian’s seizures suggested they were originating from the right frontal lobe. Dr. Mower knew Ian and his family were in for a tough journey.

“I really don’t think the general public understands the impact epilepsy has on a child and his family. Its effects are multifaceted and extensive. Our team’s goal is to reduce or eliminate our patients’ seizures, helping improve their quality of life,” explains Dr. Mower, who placed Ian on a series of medications.

The medications reduced Ian’s seizures, but did not control them. Dr. Mower was concerned about the seizures affecting Ian’s development, and presented his case to the epilepsy team.  The multidisciplinary team agreed Ian was a candidate for epilepsy surgery. For children who fail at least two medications, surgery may be considered early in treatment versus as a last resort. Surgery can result in an improvement in seizure control, quality of life, and prevent permanent brain damage. Ian’s surgery was going to be performed by CHOC neurosurgeon Dr. Joffre Olaya.

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Ian recovering from epilepsy surgery at CHOC.

While the thought of surgery was frightening to Lisa and her husband, they were confident in the team and comforted to know their son was going to benefit from innovative technology, like the ROSA™ Robot. Considered one of the most advanced robotized surgical assistants, ROSA includes a computer system and a robotic arm. The computer system offers 3D brain mapping to aid surgeons in locating the exact areas they need to reach and planning the best surgical paths. The robotic arm is a minimally invasive surgical tool that improves accuracy and significantly reduces surgery/anesthesia time.

Dr. Olaya used ROSA to accurately place electrodes in the area of Ian’s brain suspected to be the source of his seizures. By using the robot, Dr. Olaya avoided performing a craniotomy (surgery to cut into the skull, removing a section called a bone flap, to access the brain).

“ROSA is an amazing tool that yields many benefits for our patients, including less time under anesthesia in the operating room. It reduces blood loss and risk of infections. Patients tend to recover faster than they would if they had craniotomy,” says Dr. Olaya.

Lisa was amazed at the outcome. “I couldn’t believe how great Ian looked after the placements of the electrodes with ROSA. He wasn’t in any pain, there was no swelling. It was wonderful!”

She and her husband were also amazed at how well Ian did following his epilepsy surgery.

“We got our boy back,” says Lisa. “There were no more side effects from medication and, more importantly, no more seizures!  He started developing again and doing all the things a child his age should do.”

epilepsy surgery
After epilepsy surgery, Ian has been able to do things other kids his age are doing, like riding scooters.

Ian’s care team isn’t surprised by his recovery.

“Children are resilient, and their brains are no different. In fact, the plasticity of a young brain allows it to adapt to changes and heal more easily than an adult brain,” explains Dr. Mower.

Learning to ride a bike and swim were among the first of many milestones Ian quickly reached following surgery. He enjoys playing with his younger brother and his friends. And, whether inspired by his experience with ROSA or not, Ian loves robots.

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