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.

adolescent-living-with-epilepsy-undergoes-eeg-monitoring

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 ...

Female Physicians, Hospital Leaders Observe International Women’s Day

As the world celebrates International Women’s Day, we are highlighting a few of our female physician and hospital leaders. They offer insight and words of encouragement to women seeking to pursue careers in medicine.

international women's day

Kerri Schiller, senior vice president and chief financial officer

Don’t ever be afraid to take a leap – work hard and do your best.  You can be and have whatever it is you strive for – you just have to be willing to work for it.

Find yourself a mentor – someone who you trust and admire.  Keep in touch and reach out when you need advice or just to say hello.

Striking a balance between career and family can be very difficult. Healthcare, in particular, is a profession where the dedication to the well-being of others is of great importance. Having good friends and/or a partner who accepts your role and who shares and supports responsibilities  allows for greater satisfaction both at home and at the job. And, of course, working with people you enjoy and like is critical to your ability to perform your job and love what you do.

Accept the fact that some days will be hard.  I keep a small folder of mementos, including expressions of thanks or acknowledgement I have received from others through the years.  Going through that folder reminds me of times of accomplishments and success, as well as recognition.  There are going to be days when you feel like there’s no one in your court; that’s the day to pull out your file and give yourself a boost.

international women's day

Dr. Maria Minon, vice president of medical affairs and chief medical officer

It is my hope that women professionals in healthcare and other career fields will use Women’s Day as a reminder to exceed expectations and aspire to excellence as the Professionals they are – measuring themselves against all their peers – not just a select group.

A favorite quote of mine is from Eleanor Roosevelt, “One’s philosophy is not best expressed in words; it is expressed in the choices one makes… and the choices we make are ultimately our responsibility.”

I encourage women to take responsibility for themselves and their choices and to rise above to become the great individuals they desire to be.

international women's day

Dr. Mary Zupanc, chair of neurology and director of the pediatric comprehensive epilepsy program

Reach for the stars!  Go for it!  Whatever you want to do, follow your passion and your heart.  Don’t settle for less.  Money should not be the significant driver.  Money does not buy happiness or satisfaction.  In medicine and other careers, it is about making a difference, making the world a better place.

international women's day

Dr. Georgie Pechulis, hospitalist

Follow your instincts. Block out anyone trying to convince you otherwise. At times, you may feel like you have to prove yourself as a woman. Persistence, focus, and determination will allow you to reach your goal, no matter how unattainable it seems.  Failure and picking yourself up to overcome is part of the process. Be patient and respectful, but also respect yourself. Always make time to do something good for yourself. Surround yourself with other strong women to reach out to.

international women's day

Dr. Christine Bixby, neonatologist and medical director of lactation services

My advice for women pursuing a career in medicine is that practicing medicine is a great joy and privilege. The hard work is well worth it. Having a medical career and family can be challenging but finding the right balance can be done with good planning and a great partner.

Go for it! Find what is your passion. Put your head down, do the work and you will definitely succeed.

When I began my career, I wish I would have known that I would find a group of wonderful, smart and supportive women who are always there (even at 2 a.m.) to pick you up and raise you up on the tough days.

Learn more about exploring a career at CHOC Children’s.





Explore career opportunities at CHOC.




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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.

infantile spams
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.”

epilepsy surgery
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.

epilepsy surgery
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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