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.

What Providers Need to Know about CHOC’s IBD Program

When a child or teen is diagnosed with inflammatory bowel disease (IBD), the entire family is affected.  Patients with ulcerative colitis and Crohn’s disease often require ongoing medical management throughout their lifetimes.  CHOC Children’s IBD Program was recently established to provide these patients with access to pediatric gastroenterology experts and other key subspecialists, advanced diagnostics and the latest evidence-based research to diagnose and create personalized treatment plans.  The program’s team works closely with patients’ primary care providers to ensure care coordination and open communications.

“Primary care providers play a major role in managing the care of patients with IBD.  They are our partners in helping us reach our ultimate goal: securing bright futures for our patients,” says Dr. Kenneth Grant, pediatric gastroenterologist at CHOC Children’s.  He provides the following program highlights:

Dr. Kenneth Grant leads the IBD program and serves as the Chair of Gastroenterology at CHOC Children’s
  • Board-certified pediatric gastroenterologists who work with the latest advancements in IBD research and are engaged in continuous quality improvement
  • A support team that includes a registered nurse, nutritionist, social worker, and behavioral health expert
  • Coordination with primary care providers, medical and surgical subspecialists, and adult IBD providers and programs
  • Membership in the ImproveCareNow (ICN) network, whose purpose is to transform care provided to children and adolescents with IBD. CHOC is the only Orange County hospital that participates in ICN.
  • Outpatient care provided at multiple locations: Orange, Mission Viejo, Corona, Newport Beach and Fountain Valley
  • Emergency office visits with IBD medical providers for established patients, with same day or next day appointments usually available
  • IBD Parent Advisory Council whose members partner with providers to enhance the program
  • Outpatient infusion services
  • Ongoing research into the causes of IBD and development of better treatments

“Treating IBD in children and teens can be complex, requiring specialized expertise and a multidisciplinary approach to care.  We are proud to now offer additional support services to our IBD patients,” says Dr. Grant.

To speak with a CHOC gastroenterologist about the IBD program, call 714-509-4099.

Appointments can be made by calling 888-770-2462.

CHOC allergist recognized for service to children with asthma

A CHOC Children’s allergist has been honored for his longtime work to help children with asthma in the community.

Recognizing his achievements in air quality and medicine, Dr. Stanley Galant, medical director of CHOC’s Breathmobile, received the Robert M. Zweig, M.D., Memorial Award from the South Coast Air Quality Management District (SCAQMD).

The accolade is part of the agency’s 29th annual Clean Air Awards, which recognize people, businesses and public agencies that make significant contributions to cleaner air in Southern California.

CHOC’s Breathmobile is the only mobile asthma clinic dedicated to serving preschool and school-aged children in Orange County. An important community service, it removes barriers for children and their families who may be unable to travel or pay for preventive asthma care.

The Breathmobile’s two 36-foot RV-style clinics travel to 22 schools and community sites providing asthma care, diagnosis andeducation. Each location is visited every four to six weeks, providing children with comprehensive follow-up care from a familiar team until their asthma is controlled.

SCAQMD is the air pollution control agency for Orange County and portions of Los Angeles, Riverside and San Bernardino counties.

Dr. Jamie Frediani joins Hyundai Cancer Institute at CHOC Children’s

A pediatric hematologist/oncologist Dr. Jamie Frediani has joined the growing team of innovative specialists at the Hyundai Cancer Institute at CHOC Children’s.  Dr. Frediani looks forward to advancing CHOC’s leukemia and lymphoma programs, as well as the adolescent and young adult cancer program.

“The Hyundai Cancer Institute is experiencing an exciting time of immense growth, including creating new ways of delivering exceptional patient care, developing new treatments, expanding patient outreach and education, and enriching existing treatment teams,” says Dr. Frediani. “I am thrilled to be a part of this growth, and honored to join such a supportive team of experts.”

Pediatric hematologist/oncologist Dr. Jamie Frediani has joined the growing team of innovative specialists at the Hyundai Cancer Institute at CHOC Children’s.

After graduating with high honors from University of California, Davis with a bachelor’s degree in microbiology, Dr. Frediani completed medical school at University of Texas Southwestern Medical Center.  Her residency and fellowship training were done at Cincinnati Children’s Hospital and Children’s Hospital Los Angeles (CHLA), respectively.  Throughout her education and training, she assumed numerous leadership roles.  Most recently, she was chief fellow in the department of hematology/oncology at CHLA.  Aside from focusing on delivering excellent, family-centered care, Dr. Frediani would like to enhance the educational curriculum for medical students, residents and fellows, focusing on interactive and case-based learning experiences.

Dr. Frediani’s previous research includes examining the impact of the timing of central line placement in children with acute lymphoblastic leukemia on infection and thrombosis rates; studying perioperative complications in patients with high-risk vascular malformations who underwent surgical or interventional radiology procedures around the site of their lesions; investigating the incidence and clinical course of varicella and herpes zoster in children with acute lymphoblastic leukemia in the pre and post-vaccination era; and studying the outcome of empiric treatment with cefepime versus ceftazidime in pediatric oncology patients with febrile neutropenia.  The latter two studies were conducted in partnership with clinicians at St. Jude Children’s Research Hospital. Her fellowship research in the laboratory of Dr. Muller Fabbri focused on exosomal communication between endothelial cells and cancer cells, leading to miRNA-mediated increased migration of the cancer cells. In addition to numerous abstracts, Dr. Frediani has published in Molecular Cancer, Archives of disease in childhood and Pediatric blood and cancer.

When not caring for patients, she enjoys trips to Disneyland, hiking, and reading, particularly science fiction/fantasy novels. She loves to travel, exploring the world and other cultures.

CHOC Children’s Names New Orthopaedic Institute Director

Bringing a wealth of clinical and administrative knowledge and experience, Dr. Lucy Morizio has been named director of the CHOC Children’s Orthopaedic Institute.

Dr. Lucy Morizio is director of the CHOC Children's Orthopaedic Institute

In her new administrative leadership role, Dr. Morizio will partner with CHOC leadership to accomplish the Orthopaedic Institute’s strategic and operational goals, including developing the institute as a destination location for pediatric orthopedic services. She begins her new duties Oct. 22.

“I am excited to collaborate with clinicians, employees and executive leadership at CHOC Children’s to help grow its orthopedic services,” Dr. Morizio said. “My goal is to build upon the Orthopeadic Institute’s already top-notch care and outcomes to further enhance and improve how we serve children in Orange County and beyond.”

The Orthopaedic Institute consistently ranks among the Best Children’s Hospitals by U.S. News & World Report for orthopedics.

Dr. Morizio joined CHOC in 2016 as part of its population health efforts, first serving as a quality improvement specialist and later becoming manager of population health-quality.

Previously, Dr. Morizio had a private practice while working with the California’s Newborn Screening Program for 16 years.

Dr. Morizio graduated with a Bachelor of Science degree from UC Irvine and earned a doctorate in podiatric medicine from Samuel Merritt University. She completed her surgical residency in Rancho Mirage, Calif.