The transition from child to adult care must start early with education, pediatric neurologist emphasizes

Navigating from child to young adult can be very challenging in the best of circumstances.

Add a chronic or rare medical condition to the journey, and the process can get very scary.

Teens with chronic conditions face a higher risk of non-adherence to taking their medication or even obtaining it when transitioning from a pediatric to adult primary care provider, medical experts say. And statistically, the chance of them having to be admitted into an ER or have surgery increases, as does the prospect of them dropping out of treatment – which could have fatal results.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute and a pediatric neurologist who specializes in epilepsy and rare conditions, stressed in a recent webinar that she’s passionate about preventing patients transitioning to adult care from falling through the cracks.

Dr. Mary L. Zupanc, co-medical director of CHOC’s Neuroscience Institute

“We begin with introducing the concept of transitioning to adult care when our patients are 12 years old,” Dr. Zupanc said while speaking on a four-person panel hosted by Global Genes, an Aliso Viejo-based non-profit that advocates for the rare disease community.

The topic of the 50-minute discussion on Sept. 24, 2020 was “Navigating the Transition of Care for Young Adult Patients.”

In addition to her position at CHOC and as a faculty member at UC Irvine, Dr. Zupanc sits on the board of directors of the Child Neurology Foundation (CNF) in Minneapolis, Minn. On its website, the CNF details several resources about transitioning to adult care.

“We at CHOC have followed the CNF’s template to develop a formal transitioning program here,” Dr. Zupanc said.

Starting the conversation with families when a patient is 12 years old may seem too early, Dr. Zupanc said. But transitioning is a process that doesn’t have a one-size-fits-all solution, and it’s critical to start the discussion when patients are young.

The other panelists agreed. They were Dr. Leah Ratner, a fellow at Brigham and Women’s Hospital in Boston; Sneha Dave, 22, a student at Indiana University who since age 6 has lived with ulcerative colitis; and moderator Amy Ohmer, director of the International Children’s Advisory Network in Marietta, Ga., and the mother of two daughters, ages 17 and 19, who have chronic and rare conditions.

“I think it’s important to introduce the concept (of transitioning) early – to let the parents and patient know, ‘We’re not just going to throw you out,’” Dr. Zupanc said. “Rather, ‘We’re going to work with you so you can learn to self-manage your disease and your medications. And we’re going to go over your plan on a yearly or bi-annual basis.’”

Under the transitioning plan adopted by CHOC thanks to a grant, a healthcare transition program is initiated when patients turn 12 years of age.

Clinicians, social workers, and others continue to prepare their patients and their families for increased independence and management of their care, as well as to the adult model of care, Dr. Zupanc explained.

The actual transition to adult care varies from 18 to 22 years of age—often dependent on insurance—and ideally occurs in stages, as these young adults may have multiple subspecialists. Between the ages of 23 and 26 years, the young adults are integrated into adult care.

“It’s a partnership,” Dr. Zupanc said. “It takes a community.”

Sneha, the Indiana University student, said the transition must go slow because there are so many components to it, such as having to navigate health insurance.

“Young adults diagnosed with a condition at childhood tend not to be as prepared because their parents or guardians took care of everything and they had no ownership of their own care,” Sneha said.

When she was a freshman, Sneha founded the Health Advocacy Summit, which empowers young adults with chronic and rare diseases through advocacy events and programs. In August 2020, the organization hosted an international virtual summit.

“It’s a process,” Dr. Zupanc agreed of transitioning to adult care. “And I think it’s a process of self-empowerment. Most parents are used to taking care of everything. We try to empower our teenager and young adults as much as possible. Parents have to let go at some point, but it’s a process.”

The bulk of Dr. Zupanc’s patients have severe epilepsy that started in infancy. A high percentage also have intellectual disabilities.

“Sometimes they take a step forward and two steps back,” she said.

The path toward a successful transition to adult care begins with knowledge, she explained, followed by support, confidence and, finally, independence.

Dr. Zupanc noted that patients who leave CHOC are welcomed to stay in touch.

“As a pediatric provider for children with rare diseases,” she said, “I let my families and adolescents know that I have their backs and that I’m not going to let them fall into the abyss. If there are issues, I’m here to help them.”

November is epilepsy awareness month. To learn more about CHOC’s Comprehensive Epilepsy Program, click here.

Investigational Drug Study Leads to FDA Approval for Fenfluramine in Treatment for Dravet Syndrome

Children who experience seizures associated with Dravet syndrome have a new medication option, thanks to research at CHOC Children’s that helped gain the recent approval of the U.S. Food and Drug Administration (FDA).

Dravet syndrome is a sodium channelopathy that causes an intractable, difficult-to-control form of epilepsy beginning in the first year of life, as well as significant developmental and motor impairments. Many patients with this rare and severe type of epilepsy experience prolonged and unrelenting seizures and are at risk for SUDEP (sudden unexpected death in epilepsy).

Dravet syndrome is difficult to treat with the antiepileptic medications currently available in the United States, but the FDA has recently approved FINTEPLA® (fenfluramine) for the treatment of seizures associated with Dravet syndrome in patients 2 years of age and older. Dr. Mary Zupanc, pediatric epileptologist and co-medical director of the CHOC Children’s Neuroscience Institute, was a key investigator in one of the two international drug studies that led to U.S. FDA approval.

Dr. Mary Zupanc
Dr. Mary Zupanc, pediatric epileptologist and co-medical director of the CHOC Children’s
Neuroscience Institute

“The drug we recently trialed, fenfluramine, showed a significant reduction in convulsive seizures and overall seizures, which helped improve the quality of life not only for patients with Dravet but for their families as well,” Dr. Zupanc said.

Study 1 trialed 0.2 mg/kg/day or 0.7 mg/kg/day. The patients on the higher dose had a 70% reduction relative to placebo in monthly convulsive seizure frequency. And 70% of the patients on the higher dose had at least a 50% reduction in their monthly convulsive seizures compared to 7.7% of patients on placebo. Patients on the lower dose of fenfluramine had a 31.7% reduction relative to placebo in monthly convulsive seizure frequency, and 34.2% of patients on the lower dose had at least a 50% reduction in their monthly convulsive seizures.

In addition to reducing the monthly convulsive seizure frequency in patients whose seizures were not adequately controlled on one or more antiepileptic drugs, most study patients responded to treatment with fenfluramine within three to four weeks, and the effects remained consistent over the treatment period. Dr. Zupanc remarked that fenfluramine’s effectiveness could be “life-changing” for patients with Dravet.

Fenfluramine — used on its own and also paired with phentermine in the popular weight-loss combination known as “fen-phen” — was withdrawn from the U.S. market in 1997 after reports of heart valve disease and continued findings of pulmonary hypertension. Due to these risks, subjects received frequent EKGs and echocardiograms throughout the investigational trial. No valve disease or hypertension was found, but a decrease in appetite and some observations of a minor increase in irritability were noted.

Dr. Zupanc is optimistic about fenfluramine’s application for Dravet, but advised that it is only part of an overall treatment plan. “If a physician has a patient with Dravet syndrome, I would make sure the patient gets referred to a Level 4 epilepsy program, the highest designation for epilepsy centers,” Dr. Zupanc said. “CHOC is a level 4 epilepsy center, which means we do investigational drug studies, vagus nerve stimulation, epilepsy surgery, ketogenic diet and provide a full-service epilepsy program with six epileptologists with board-certification in epilepsy. Because we have participated in these [investigational] studies, we are on the ground floor and know how to dose these drugs and adjust these medications.”

Our Care and Commitment to Children Has Been Recognized

CHOC Children’s Hospital was named one of the nation’s best children’s hospitals by U.S. News & World Report in its 2020-21 Best Children’s Hospitals rankings and ranked in the neurology/neurosurgery specialty.

Learn how CHOC’s neuroscience expertise, coordinated care, innovative programs and specialized treatments preserve childhood for children in Orange County, Calif., and beyond.

5 things pediatricians should know about seizures

Seizures can bring up a lot of worries and unknowns, especially when it comes to children.

One percent of the population has epilepsy, which puts the estimated number of children with epilepsy in Orange County alone at about 7,500. It is estimated that one in five people will have a seizure at some point—whether it develops into epilepsy or not—making seizures a more common neurological condition than multiple sclerosis, Parkinson’s and Alzheimer’s disease combined.

There are many common misconceptions about seizures, even within the medical community. Dr. Mary Zupanc, pediatric neurologist and epileptologist and co-medical director of CHOC’s Neuroscience Institute, points to five important points pediatricians should consider when seeing a patient who has had one or more seizures.

Professional headshot of Dr. Mary Zupanc, Pediatric Epileptologist at CHOC Children's, in a while labcoat on a gray background.
Dr. Mary Zupanc, Pediatric Epileptologist at CHOC Children’s
  1. There should be zero tolerance for seizures.

    Seizures are considered epilepsy when a child has had two or more unprovoked seizures—seizures that are not tied to a different underlying condition.

    When epilepsy is diagnosed, treatment should be initiated early. Some families are reluctant to treat their child’s epilepsy, often fearful that antiepileptic medication is worse than epilepsy itself. They worry about the side effects — that it will cause their child to have cognitive impairments and slow them down. However, repeated seizures can translate into progressive injury to the brain, with a decline in cognitive abilities and frequent psychosocial co-morbidities, including anxiety and depression. Furthermore, even if seizures are infrequent, there is a loss of independence for children and adolescents. An example would be an adolescent’s inability to obtain his/her driver’s license.

  2. Epilepsy is progressive.

    “Brain cells that seizure together network together,” Dr. Zupanc says, forming neuronal circuitry that hardwires the brain for continued seizures. Over time, there can be brain cell loss, cognitive decline, and important psychosocial consequences. Furthermore, when seizures continue, there is increased risk among those with epilepsy of sudden, unexpected death or other progressive neurological issues over the subsequent 20-30 years.

  3. Encourage parents to act quickly.

    Recurrent unprovoked seizures is the definition of epilepsy. Epilepsy should be treated and not ignored, for the reasons outlined above. Approximately 60-70% of epilepsy can be completely controlled with antiepileptic medication. Thirty percent of patients with epilepsy have intractable seizures, i.e. a failure to control the seizures with antiepileptic medications. These patients require more comprehensive care, including an evaluation for epilepsy surgery — at a Level IV Epilepsy Center, which is a designated center given only to those centers who provide multidisciplinary care with cutting-edge technology. Some parents fear that epilepsy surgery will cause serious neurological deficits. Most epilepsy surgeries are highly successful without detrimental effects to cognitive or motor functions. With epilepsy surgery, the risk of a severe and permanent injury is under 1%, and the risk of a minor or temporary injury is under 5%. Compared to the risks associated with years of recurrent seizures, the risks of epilepsy surgery are much lower than the risks of continued epilepsy.  

    The effectiveness of epilepsy surgery decreases significantly over time, especially for children who have had epilepsy for seven or more years. In addition, the plasticity of younger brains allows a transfer of functions to other parts of the brain — something adult brains cannot do as readily, Dr. Zupanc says.

    Because of this, she strongly encourages epilepsy surgery early, not waiting until a child is older.

  4. Delay in seizure treatment affects long-term psychological health.

    The psycho-social components of seizures are oftentimes just as important as the physiological ones, says Dr. Zupanc. Depression and anxiety occur in 50- to 60% of children with epilepsy, and there is also a notable increase in suicidal risk.

    These effects are increased when families wait to pursue recommended surgery, she says. Later in life, the surgery may remove the seizures, but the psychological effects are already deeply embedded.

  5. Seizure history should affect your referral choice.

    “It is so important for pediatricians to know that if a child’s epilepsy has not come under complete control after trying two or more antiepileptic medications, he/she should be referred to a higher level of epilepsy care, specifically a Level III-IV Epilepsy Center, as designated by the National Association of Epilepsy Centers,” says Dr. Zupanc. If the child is a young baby, the referral is even more urgent. “If a baby continues to have seizures after just one drug, he/she needs a referral to a Level III-IV epilepsy center immediately.”

    The care plan should include pediatric epilepsy specialists, epilepsy-trained neurosurgeons, state of the art neuroimaging tools, nurse practitioners, pharmacists, dieticians, social workers and neuropsychologists.

    “At CHOC, we treat epilepsy with a multidisciplinary team approach,” says Dr. Zupanc. Additional diagnostic tests are usually necessary to diagnose the appropriate epilepsy syndrome, determine if epilepsy surgery is an option, and/or outline an individualized, optimal treatment plan.

    Furthermore, all of those involved in the child’s care hold a comprehensive epilepsy conference to discuss complex cases and lay out the best possible strategy for achieving a seizure-free outcome.

CHOC Children’s leaders observe International Women’s Day

As the world celebrates International Women’s Day, we turned to CHOC Children’s female physicians and nursing leaders for insight and words of encouragement to other women pursuing healthcare careers.

Melanie Patterson, vice president, patient care services, and chief nursing officerWhen beginning your career in medicine, don’t focus on one trophy. The fields of medicine and nursing have so many opportunities within them; be courageous and try new things. The most important aspect of leadership and of career success is to be kind. Remember to form your own opinion — go into every relationship with your eyes open and stop looking through others’ eyes; they don’t always have 20/20 vision.

Dr. Mary Zupanc, pediatric neurologist and epileptologist & co-medical director of the CHOC Children’s Neuroscience Institute

When I went to medical school, women were not encouraged, and it was hard. There were a lot of things that happened that made it very difficult, but medicine is truly one of the most gratifying professions you will ever have. Every patient is different. I believe that if you really and truly listen, a patient and their family will give you the diagnosis you’re searching for. Everyone’s story is so fascinating, and that makes our work like being a detective. Sometimes I feel like Sherlock Holmes searching for answers. Then once you do find an answer, you need to work with the family to make sure the treatment works for their lifestyle, culture and religion. That makes the work challenging, fun and meaningful.

The best piece of advice that I’ve ever received is to never apologize for excellence. Anyone would want their doctor to strive for excellence – and that goes for any profession.

Amy Waunch, nurse practitioner and trauma program managerNever underestimate your capabilities. Do not shy away from opportunities and always take on new challenges. Believe in yourself but don’t be afraid to ask for help. You may not have all of the answers all of the time, but you do have the ability to learn and grow.

Spot growth opportunities when they present themselves because they are the key learning opportunities. You will know because they make you uncomfortable and your initial impulse will be that you are not ready.

Dr. Azam Eghbal, medical director, radiologySince I was 7 years old, I wanted to be a doctor and becoming one has been the best decision of my life. As a female immigrant, I was told that I could never get to medical school, which, of course, motivated and challenged me even more to do so. The best advice I’ve gotten is don’t be discouraged about all your falls and obstacles. Think how you can succeed to get where you want to be.

Dr. Amber Leis, pediatric plastic surgeonMy advice for women pursuing a career in medicine is to trust yourself! Early on in your career, it’s easy to be overcome by feeling like you are not up to the task ahead of you. Your unique qualities will become your greatest strengths, so just keep chasing your passion.

I have great faith that if I stay true to my core principles, the right path will open in front of me. I try not to set specific goals for the future and instead I give my best to where I am. It keeps me focused on what I am doing now, and not distracted by trying to maneuver into some future place.

The best piece of career advice I’ve ever gotten has been, “You get to choose what kind of person you will be.”

Dr. Jasjit Singh, medical director, infection prevention & controlMy advice for women pursuing a career in medicine is to follow your passion! There are few other careers that offer the personal satisfaction and the intellectual rigor that medicine does. Find a good mentor early in your career. Later, make sure your practice partners have abilities that you respect, and the talent to make your shared time together meaningful.

I learned early on that delegation and time management are important, particularly if you want to balance a medical career and family. You can’t always do it all, and prioritization is tantamount to success in all the different spheres of your life.

One of the best pieces of advice that I got was from a mentor during fellowship, who told me, “It’s not enough to just be a good clinician.” He showed me the importance of asking good research questions and pursuing new knowledge. He also encouraged my love of teaching upcoming generations of pediatricians!

Dr. Katherine Williamson, pediatricianI love being a pediatrician. I help take care of kids every day and partner with their parents to help keep them healthy. To me, being successful is loving what you do, because then working hard and being motivated to do well doesn’t feel like work – it’s fulfilling a passion.

When asked to give advice, I always say these three things: be yourself, don’t rush, and follow your heart every step of the way. Be yourself, always. No matter how busy or loud life gets, never lose sight of you who you are and what you want to do.  Don’t be in a rush. Enjoy the journey because that is where you learn who you truly are. Lastly, follow your heart in every decision you make. When I look back on what got me to where I am in my career, I realize that it was not one or two big decisions that were the deciding factor, but instead it was a million little decisions along the way. And with each of those decisions I followed my heart and my passion.

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.