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.

CHOC at forefront of treating Batten disease

Bringing new hope to patients and their families, CHOC Children’s is now among a few hospitals in the country to offer treatment for a rare genetic brain condition that has previously been considered a death sentence for children.

CHOC has been fast tracked to commercially provide Brineura, the first and only treatment for CLN2 disease, also known as late infantile Batten disease. The condition typically begins with language delays and seizures before age 3, and rapidly progresses to dementia, blindness, loss of the ability to walk and talk, and death in childhood.

Bringing Brineura to CHOC is the product of three years of work by metabolic specialist Dr. Raymond Wang.

Dr. Raymond Wang, who treats patients with Batten disease, stands in lab looking over papers
Dr. Raymond Wang, CHOC metabolic specialist

“This is huge,” Dr. Wang says. “You’re taking a progressive and fatal disease and stopping it. Having seen how heartbreaking it is for families to see the child they know get slowly robbed from them, the fact that we can offer these families hope, is tremendous. Something like this is the very reason I went into medicine and specialized in metabolic disorders: to provide hope to families affected by rare disorders such as late infantile Batten disease.”

Dr. Wang works closely with CHOC neurosurgeon Dr. Joffre Olaya to administer the medicine. Each patient has an Ommaya reservoir implanted under their scalp, which allows the medicine to be infused directly into their brains.

In a sterile procedure every two weeks, Dr. Olaya and a team of highly trained nurses insert a needle into the reservoir to administer the medication. The infusion lasts four hours, and after four hours of observation, the patients can go home.

While not a cure, the drug can slow the progression of the disease. Over a three-year period, patients treated during clinical trials showed no progression of the disease, which was radically different from the disorder’s natural course. The medication improves quality of life and buys patients critical time as researchers continue to search for a cure.

Having the treatment available close to home is a game changer for the Bowman family.  A participant in the clinical trial, Ely Bowman, 4, would travel every 10 days with his parents from Orange County to Columbus, Ohio, for treatment.

But now, the Bowmans need only to drive a few miles to CHOC for this critical treatment.

“For Ely to be home and have consistency and we can still have some fun is wonderful,” his mother, Bekah, says. “We can see him thriving.”

Learn more about CHOC’s metabolic disorders division and the CHOC Children’s Neuroscience Institute.

Refer a patient for a metabolic disorder evaluation.

 

In the Spotlight: Irfan Ahmad, M.D.

In addition to treating newborn babies requiring critical care, neonatologist Dr. Irfan Ahmad strives to involve family members in the care of their infant, which he says is essential for providing the best possible care for babies in the CHOC Children’s neonatal intensive care unit.

“I always include parents as part of the care team when treating a baby in the NICU, especially the mother. A mother and her baby were a single unit up until right before the delivery,” Dr. Ahmad says. “Parents are an essential part of the healing team, and building a strong physician-parent relationship is an important aspect of patient- and family-centered care.”

Surgical NICU

An internationally trained neonatologist, Dr. Ahmad also serves as medical director of the surgical neonatal intensive care program at CHOC.

Irfan Ahmad, M.D.
Irfan Ahmad, M.D.

The program will take up residence in CHOC’s recently-opened NICU, which features 36 private rooms with the latest technology and innovations in neonatal care. The 25,000-square-foot unit is nearly triple the size of CHOC’s prior NICU space, and will allow parents to stay overnight with their babies.

“We strongly believe in mother-baby bonding and the value of breast feeding, and our new private NICU rooms are designed to optimize that,” he says.

The recently-opened NICU also features three rooms with surgical lights, allowing minor procedures to be performed at the bedside.

The only Surgical NICU on the West Coast, CHOC’s program is comprised of a multidisciplinary team including neonatologists, pediatric surgeons and anesthesiologists.

“What inspires me the most about care being delivered at CHOC is the combination of passion for helping babies, multidisciplinary interactions, use of modern technology and an atmosphere of teaching,” Dr. Ahmad says. “From dedicated neonatologists present 24 hours a day in the NICU, nurses constantly advocating for best care, nutritionists and pharmacists rounding with the team, physical therapists, wound care teams, lactation specialists and social workers all working together to help a fragile small baby has no parallel.”

Dr. Ahmad’s Surgical NICU team also offers extracorporeal life support (ECLS), also referred to as extracorporeal membrane oxygenation (ECMO) for patients. CHOC is the only facility in Orange County that offers ECLS, which supports the heart and lungs by taking over the heart’s pumping function and the lung’s oxygen exchange until they can recover from injury, surgery or illness.

In addition to neonatologists, the dedicated ECLS team is composed of cardiothoracic and pediatric surgeons, intensive care physicians, nurses, respiratory therapists and cardiopulmonary perfusionists who are experts in their fields and have received additional education to manage the complex equipment and medical needs of the children needing this life-saving technology.

In addition to stewarding the Surgical NICU, Dr. Ahmad’s special clinical interests include caring for babies who require surgery, including those born with structural abnormalities such as diaphragmatic hernia, intestinal obstruction and imperforate anus. His clinical interests also include babies who develop the intestinal infection necrotizing enterocolitis or who have intestinal perforation. His most common diagnoses include intestinal obstruction and trachea-esophageal fistula.

Mandibular Distraction Program

Dr. Ahmad is especially passionate about caring for babies with difficulty breathing due to an undersized or recessed lower jaw, which can be caused by a condition called Pierre Robin Sequence.

In 2008, Dr. Ahmad helped launch a mandibular distraction program at CHOC. Dozens of infants have benefited from mandibular distraction osteogenesis, which involves a plastic surgeon placing a special device in the small lower jaw to expand it, prompting new bone growth over a period of two to three weeks.

Traditionally, babies with this condition have been treated by placing a tracheostomy that remains in place for several years until the child outgrows the condition. Mandibular distraction is a more permanent solution that takes a few months to complete, allowing a baby to go on to have a normal, healthy development.

Constant quality improvement

Passionate about quality improvement, Dr. Ahmad serves as director of quality improvement for NICUs affiliated with CHOC Children’s Specialists. He has participated in several quality improvement initiatives with Vermont Oxford Network and California Perinatal Quality Improvement Collaborative. This includes a project to improve the transition of care for surgical cases from one team to another, decreasing delivery room intubations and preventing premature newborn babies from developing hypothermia.

As the director of quality improvement for CHOC’s network of nine NICUs, he partners with quality improvement teams at each unit in carrying out improvement projects based on local needs. The team currently has nine simultaneous quality improvement projects in the hospitals where CHOC neonatologists round.

Passionate about educating the next generation of pediatricians and neonatologists, Dr. Ahmad also serves as NICU education director for UC Irvine’s pediatric residency program and is an associate clinical professor of pediatrics at UC Irvine. He also trains neonatology fellows through CHOC’s partnership with Harbor-UCLA Medical Center’s neonatal-perinatal medicine fellowship program.

His current research efforts include studying the breathing patterns of full-term babies in order to refine inclusion criteria for the mandibular distraction procedure. He is also currently studying the clinical outcomes of CHOC’s surgical NICU program.

Pursuing his calling to care for children

Dr. Ahmad attended medical school at Aga Khan University in Pakistan. He completed a residency in pediatrics at the University of Oklahoma and a fellowship in neonatal-perinatal medicine at UC Irvine. He has been on staff at CHOC for 10 years. He knew from an early age that he wanted to care for children, so pursuing a pediatrics residency after medical school was a natural choice.

“I was exposed to various specialized fields like cardiology and oncology, but I wanted to take care of the whole patient. I also wanted to see when I could have the most impact on the life of a person,” Dr. Ahmad says. “During my residency when I worked in the NICU, I noted that good care in the first few minutes of life was so critical. Effective resuscitation, followed by intensive care in the NICU could make all the difference for the patient, who can then live a long and accomplished life.”

Dr. Ahmad finds inspiration in the strength of his patient’s families, and is continually renewed and humbled by their gratitude.

“I have been impressed by the strength of the families who have a sick little baby in the NICU. It is extremely difficult to have your newborn on a ventilator struggling for life. Yet, we see the moms and dads holding on to hope and being there for their baby,” Dr. Ahmad says. “Neonatology is a very difficult field with long hours taking care of very sick babies. The gratitude you get from parents when the baby is finally well and going home and the amazing photographs and cards that are sent to us makes everything worthwhile.”

In his spare time, Dr. Ahmad enjoys golfing with his children and developing his photography skills.

Learn more about neonatal services at CHOC Children’s.