Seizure-free after a rare epilepsy diagnosis

Thanks to the expertise of a CHOC Children’s epileptologist, a 12-year-old boy diagnosed with a rare type of epilepsy is seizure-free and has a bright future ahead – the significance of which is underscored in November, Epilepsy Awareness Month.

Gabriel Lucak had been a healthy, normally developing child until age 3, when he suddenly began experiencing seizures.

CHOC Children's Neuroscience Institute patient Gabriel Lucak poses by the ocean
CHOC Children’s Neuroscience Institute patient Gabriel Lucak

What began as a tonic-clonic seizure in May 2008 rapidly progressed to include myoclonic, atonic, and atypical absence seizures. On his worst days, Gabriel experienced up to 50 seizures a day.

“It was like living out a surreal nightmare,” said his mother, Nicole.

Gabriel was initially diagnosed 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 ketogenic diet. During this time, Gabriel was hospitalized numerous times to modify his medication and control his seizures.

Searching for answers

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 in March 2009 found a beacon nearly 1,400 miles away in Dr. Mary Zupanc, a pediatric neurologist and one of the nation’s leading epileptologists, who was then practicing in Wisconsin.

Under Dr. Zupanc’s care, Gabriel was placed on 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 – tonic – during sleep.

CHOC epileptologist Dr. Mary Zupanc holds a model of a human brain..
CHOC Children’s pediatric epileptologist Dr. Mary Zupanc

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.

In addition, Dr. Zupanc 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 said. “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.

He 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 said.

Learn more about the CHOC Children’s Neuroscience Institute.

Infantile Spasms: What Pediatricians Should Know

Though seizures in children are always worrisome, pediatricians should be especially watchful for infantile spasms, a type of epilepsy that occurs in young infants typically between ages 3 and 8 months, a CHOC Children’s neurologist says.

These seizures should be considered a medical emergency due to the potentially devastating consequences on the developing brain, Dr. Mary Zupanc says. Many children with infantile spasms go on to develop other forms of epilepsy because a developing brain undergoing an epileptic storm essentially becomes programmed for ongoing seizures and cognitive/motor delays.

To that end, here’s what pediatricians should look for:

  • Infantile spasms often occur in clusters, with each spasm occurring every five to 10 seconds over a period of minutes ranging from 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.

Infantile spasms can be easily missed because they can mimic common symptoms and conditions such as sleep disturbances, gastroesophageal reflux, startle and shuddering attacks.

Diagnosis, treatment

If infantile spasms are suspected, a pediatrician should quickly refer the child to a pediatric neurologist. CHOC neurologists admit these children urgently for long-term video electroencephalogram (EEG) monitoring to confirm the diagnosis.

Infantile spasms are diagnosed on the basis of clinical spasms, in association with a markedly abnormal EEG showing a hypsarrhythmia pattern. A hypsarrhythmia pattern is characterized by very high amplitude electrical activity and multifocal areas of the brain demonstrating epileptic discharges.

High-dose adrenocorticotropic hormone, or ACTH, is CHOC neurologists’ first line of treatment for infantile spasms, per the American Academy of Neurology’s 2004 practice parameter. Vigabatrin (Sabril), the parameter states, is probably effective in the treatment of infantile spasms, especially in children with tuberous sclerosis and infantile spasms.

If started within four to six weeks of seizure onset therapy has better success at stopping spasms, eliminating the hypsarrhythmia pattern and improving developmental outcomes regardless of etiology.

The course of treatment is approximately six weeks. During this time, and for two to three months after the ACTH course, immunizations should not be administered. The effectiveness of ACTH may be as high as 85 percent, though a recent published study placed the efficacy at a slightly lower percentage, regardless of etiology.

Side effects, causes

Side effects of ACTH, a steroid, include high blood pressure, increased appetite and weight gain, increased sugar in the blood, temporary suppression of the immune system, and sometimes gastritis. All side effects are monitored during the time of the ACTH, and they disappear after the course of treatment.

Successful therapy is marked by two achievements: the cessation of the infantile spasms and the elimination of the hypsarrhythmia pattern. But because clinical spasms can be very subtle and the hypsarrhythmia pattern may sometimes only be seen during deep sleep, therapy’s success can only be confirmed through objective long-term video EEG monitoring.

The etiologies for infantile spasms can include:  tuberous sclerosis; cortical dysplasias; stroke; infection including meningitis and encephalitis; hypoxic-ischemic injury; trauma; or genetic conditions such as Down syndrome and metabolic disorders.

 

What CHOC Physicians are Grateful for this Thanksgiving

As Thanksgiving approaches, CHOC Children’s physicians explain what they’ll consider when giving thanks this holiday.

 

“CHOC has provided me with lifelDr. Neda Zadehong blessings. I am grateful to have grown up at and with this hospital, from the initial CHOC Tower to the current Bill Holmes Tower, through pediatric residency training and beyond.  To now be a member of such a remarkable team of providers — including our nurses and support staff — is both humbling and inspiring. Every day, I am especially thankful for the families who cross our threshold, and entrust the care of their most precious children to us. With continued commitment and dedication toward the health and well-being of our children, the future will be brighter than any of us can imagine.”
– Dr. Neda Zadeh, genetics

 

Dr. Kenneth Grant

 

 

“I am thankful to be working for an organization that creates an environment where our patients become our family. I am also grateful that CHOC Children’s has the foresight to invest in the innovative ideas we have to improve the health care we provide.”
 – Dr. Kenneth Grant, gastroenterology

 

 

 

mackey_tg

 

“I am thankful for the opportunity with be partnered with an excellent children’s hospital. I am also thankful for the pleasure of working with other positive people who provide outstanding care to the children of Orange County. Together, we work to improve the care and services we deliver to our most important resource — our children.”
– Dr. Daniel Mackey, pediatrics

 

 

 

 

Dr. Lilbeth Torno

“I am grateful for the incredible team we have in oncology, inlcuding   doctors, nurse practitioners, physician assistants, nurses, the research team, members of ancillary services, our inpatient, clinic and OPI staff, administrative support, and other subspecialists, who all have great minds and compassionate hearts, and walk the difficult cancer journey with our patients and their families. I am humbled to be with such great company here at CHOC, who care deeply for children.”
– Dr. Lilibeth Torno, oncology

 

 

 

goodman_tg“I am most grateful to the people behind the scenes at the hospital who do all the invisible jobs that are so important to keep CHOC Children’s running: the housekeepers, lab and x-ray technologists, bio-medical engineers, pharmacy technicians, scrub technicians, security guards and maintenance staff that work tirelessly, 24-hours a day.”
– Dr. Gary Goodman, critical care

 

 

 

 

 

Dr. William Loudon

“I am most thankful for the ability to practice alongside of the caring and professional staff and physicians at CHOC, who all share the common goal of caring for children. Working together, we are able to tackle incredibly complex and varied problems that present in the amazingly diverse population of children that we serve.”
Dr. William Loudon, neurosurgery

 

 

 

 

 

 

“I am thankDr. Amy Harrisonful for so many things here at CHOC. I feel truly blessed every day to have found a professional community of like-minded caregivers who share a passion and dedication for continued improvement in the care we provide. I am also so grateful for the opportunity to meet and care for such incredibly courageous patients and to become a part of their families. Finally, I am thankful to my teams within the pulmonary division, the Cystic Fibrosis Center and the muscular dystrophy clinics for their selfless care of our patients. I wish our entire community a healthy and happy holiday season.”
Dr. Amy Harrison, pulmonology

 

choc_zupanc

“I’m thankful for the opportunity to serve my patients and families, and to help them secure bright futures through CHOC’s world-class care. I am also so grateful to work among a team that is steadfastly committed to the health and well-being of children in our community and beyond. “
Dr. Mary Zupanc, neurology

 

 

 

 

 

 

 

aminian

“I am thankful for the platform CHOC has given us to provide service to a community that inspires me daily. I am humbled to just be part of it all.”
Dr. Afshin Aminian, orthopaedics