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

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What Causes Seizures?

Seizures are mysterious. They cause the body to act strangely. They’re hard to predict and they can’t be seen, except with special tests of the brain. So, what causes seizures?

As a neurologist with special training in epilepsy, CHOC Children’s epileptologist Dr. Maija-Riikka Steenari has dedicated her career to understanding seizures and epilepsy, which affects 470,000 children nationwide. In recognition of National Epilepsy Awareness Month, she provides a look into the mystery of seizures.

dr-maija-steenari-choc-childrens-epileptologist
Dr. Maija Steenari answers frequently asked questions related to what causes seizures.

What happens in the brain during a seizure?

“Brain cells, called neurons, communicate by electrical activity. If there is a dysfunction, the brain can get overexcited. The electrical activity in the brain surges, causing the neurons to get out of control. The surge of electricity can start in one spot and spread, called a focal onset seizure, or it can happen throughout the brain, called a generalized seizure.”

What does a seizure look like?

“A seizure can manifest in many different ways. When a family comes to us, we ask them what they saw when their child had a seizure. What happened first? Was one arm stiff, were both arms jerking, did the child fall down, did their head turn to one side, were they unresponsive? It’s very helpful if the family has video of a seizure happening. A seizure can make you see, feel and taste weird things. We will ask the child, do you remember having a seizure or not? All these details help us determine if the seizure started from one focus and from which area of the brain, or if it was generalized onset.”

What causes seizures?

“Focal onset seizures can be caused by multiple different things, for example a malformation in the brain or an injury to the brain. Other causes could be a genetic or metabolic disorder which affects how the brain works, or causes a buildup of toxic materials, or is preventing the brain from getting what it needs. Many seizures or epilepsies are considered idiopathic, which means they have no known cause. We are learning more about them and why they happen, and as we do more testing, we find explanations to previous mysteries, often caused by genetic mutations.”

What can tests tell you about seizures?

“We always start with an EEG. That looks at the electrical activity in the brain. We can often see epileptiform discharges on the EEG, which tells us a patient has a tendency of having seizures. I often describe these discharges as sparks of electrical activity. I like to use the lawn analogy when I am talking to families. Think of a brain that has a tendency of having seizures as dry grass. Epileptiform discharges, or sparks, can easily cause a fire (I.e. seizure) on the dry grass. We may also use an MRI to look at the structure of the brain, to look for any abnormalities like a cortical malformation, tumor, or scar tissue from an infection or brain injury such as a stroke.”

How do you treat seizures?

“If the seizure was unprovoked, and after the initial evaluation we have a high suspicion that seizure will reoccur, we recommend starting a medication to treat the seizures. Referring back to the lawn analogy, medication can be considered as watering the lawn, to make the environment more difficult for the sparks to cause more fires. About 60-70 percent of the time, the first medication works when picked correctly. If the seizures continue despite appropriate dosing, we often try a second one. With adding a second medication, the chance of being seizure free is much less likely and If they fail two medications, we need to consider other treatment options, for example epilepsy surgery, diet treatments or vagal nerve stimulator.”

When considering epilepsy surgery, how do you know what part of the brain to operate on?

“Prior to surgery, we gather a lot of information about the seizures, the cause of the child’s epilepsy and the brain structure. We capture typical seizures during an inpatient video EEG study, and we will often lower medication to encourage a seizure to happen. We use detailed imaging techniques to look at the brain structure and how the brain uses energy, to see if we can pinpoint a focal seizure onset zone. We will also do neuropsychological testing, to understand if a child has difficulties in certain brain functions. We will discuss the results with our multidisciplinary epilepsy team, and evaluate if the child could benefit from epilepsy surgery.”

Is everyone’s brain mapped the same?

“No. Most brains are generally mapped the same but it’s not always the case, and sometimes the cause of the seizure has also caused the brain to map differently. A child’s brain is very plastic, and it has adapted around the injury or abnormality. Seizures cause disruption of typical brain development and the more seizures you have and the longer you have them, at some point your brain has learned to have seizures and they are much harder to control. Disruption of normal brain networks can also cause learning difficulties and developmental delays. That’s why it’s important to treat epilepsy as early as possible in children.”

Learn more about the CHOC Epilepsy Program

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CHOC Included Among Nation’s Best Children’s Hospitals in U.S. News Survey

CHOC Children’s has been named one of the nation’s best children’s hospitals by U.S. News & World Report in its 2017-18 Best Children’s Hospitals rankings.

CHOC ranked in seven specialties: cancer, diabetes/endocrinology, neonatology, neurology/neurosurgery, orthopedics, pulmonology and urology, which earned a top 20 spot on the coveted list.

According to U.S. News, the Best Children’s Hospitals rankings were introduced in 2007 to help families of children with rare or life-threatening illnesses find the best medical care available.

The 11th annual rankings recognize the top 50 pediatric facilities across the United States in 10 pediatric specialties.

The U.S. News Best Children’s Hospitals rankings rely on clinical data and on an annual survey of pediatric specialists. The rankings methodology considers clinical outcomes, such as mortality and infection rates, efficiency and coordination of care delivery and compliance with “best practices.”

“At CHOC Children’s, we are steadfastly committed to delivering high-quality, safe and reliable health care to our patients,” said Dr. James Cappon, CHOC’s chief quality officer. “Recognition from U.S. News of our excellence in these seven subspecialties validates our efforts, but also provides our patients and families with even more assurance of our commitment to excelling in all areas of care.”

“The pediatric centers we rank in Best Children’s Hospitals deliver exceptionally high-quality care and deserve to be recognized for their commitment,” U.S. News Health Rankings Editor Avery Comarow said. “Children with life-threatening illnesses or rare conditions need the state-of-the-art services and expertise these hospitals provide every day.”

Learn more about survival rates, adequacy of nurse staffing, procedure and patient volume, availability of programs for particular illnesses and conditions and more. 

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A Parent’s Guide to Understanding the Teen Brain

The mind of a teenager can be at times mysterious and illusive. A pediatric neurologist, a pediatric neuropsychologist and a pediatrician who works with adolescents at CHOC Children’s offer advice for parents on how to better understand and connect with their teen.

Navigating adolescence with a still-developing brain

Adolescents’ brains are not yet fully developed during their current stage of life. Physical development can start as early as 8 years old, but the tail end of brain development doesn’t occur until closer to age 25. The more your child is exposed to new things, skills or experiences, the more connections their brain will develop.

“The brain is constantly developing through young adulthood. Just like we wouldn’t expect a baby to be able to speak or a toddler to be able to understand certain consequences, we have to have appropriate expectations for our adolescents,” says Dr. Sharief Taraman, a pediatric neurologist.

Dr. Sharief Taraman offers advice on the teen brain
Dr. Sharief Taraman, a pediatric neurologist at CHOC Children’s

This constant development can lead to experimentation and in turn, a healthy decision making process.

“On the one hand, adolescents are more apt to experiment and make poor choices because their brains are still developing, but they are also more able than adults to learn from their mistakes and alter their perspectives,” says Dr. Jonathan Romain, a pediatric neuropsychologist. “I see adolescence as a period of great potential for growth and development.”

Dr. Jonathan Romain comments on the teen brain
Dr. Jonathan Romain, a pediatric neuropsychologist at CHOC Children’s

A parent’s role in teen brain development

The consequences of teens’ actions can help them link impulsive thinking with facts. This helps the brain make these connections and wires the brain to make this link more often. Parents play a crucial role in helping teens talk through consequences and decision making.

“Part of a parents’ role during this time in their child’s life is understanding that adolescents are practicing new reasoning skills they haven’t used before,” says Dr. Alexandra Roche, a pediatrician who works with adolescents. “Having abstract thinking is one new reasoning skill they need to practice. When they are trying to make a decision, it’s helpful for parents to let them explore various consequences.”

Dr. Alexandra Roche comments on the teen brain
Dr. Alexandra Roche, a pediatrician who works with adolescents at CHOC Children’s

The primary part of the brain developing during this time is the frontal lobe. As this area develops, teens are better equipped for abstract thinking and executive functioning, such as planning their day and making decisions. The frontal lobe is also involved with connections and how we socialize with people as well.

“They’re learning that if A happens, then B or C is going to happen after that. Parents get frustrated at how adolescents handle peer relationships and how extreme their feelings can be, but these may happen because those connections are being formulated. Talking through consequences helps good connections to form,” says Dr. Taraman. “Decision making takes practice. If you want to play guitar, you take lessons and practice, and it makes you better. If you only take one guitar lesson, you’re not going to learn how to play. Decision making is the same thing; it takes practice and it is never too early to start teaching our kids how to make good decisions.”

How to teach decision-making skills to your teen in an interactive way

Remember that you are a role model for your teen’s behavior. When it’s time to make a big decision, show them how to make a matrix, weigh the criteria of what is important to you and them, and teach the decision making process in an interactive way.

Modeling reasoning behavior with your teen will affect how they explore and understand downstream consequences, says Dr. Roche.

“If they approach you and want permission to do something, have them do research via respectable sources and find out what’s appropriate for their age. Involve them in the decision making process. That’s how you can give them good tools instead of just deciding things for them,” says Dr. Taraman.

Talking to your kids is essential in the digital age. It’s common for teens to want to be on their smartphone around-the-clock, but that can spur an extreme fear of missing out. Figuring out how to turn off both the devices and the need to be constantly plugged in is important.

“Try setting technology-free zones or times in your home, such as the dinner table. Take turns going around the table and sharing the highlight of your day. It can spark conversations about other things that happened during your day and how you dealt with them. Teens can learn by example,” says Taraman.

Your teen’s friends also play a crucial role in their development, but peer pressure is not always a bad thing.

“Peer pressure can be positive in many cases, like trying a new sport or joining a new club at school. Experimentation is the way adolescents learn how to interact with their environment and peers,” says Dr. Roche. “Kids should be curious and try different activities.”  Helping them plan ahead for unexpected events, such as being offered drugs or alcohol, can help your teen make the right choice when it counts.

How to calm an overly emotional teen

When teens are overly emotional and fixating on a problem they feel is the end of the world, there are several things parents can do to calm them down so they can start talking through their emotions.

“It’s very common for teens to be very dramatic. Whatever is happening in their world can seem like it’s the most important thing that has ever happened to them,” says Dr. Roche. “Help them identify the emotion they are feeling, and what is making them angry or excited, for example. Identifying the root cause of the emotion and then connecting that back to how that affects their decision making is important.”

Dr. Romain encourages parents to give their teen some space but remind them that you are available to listen.

“Not every problem needs a solution. Sometimes they just need someone to listen to them in a safe space. Encouraging journaling can also be a productive way of getting thoughts and feelings out,” he says.

Listen first and then expand on their statement.

“If they express hurt or disappointment, try to get them to more openly explain why something hurt their feelings,” says Dr. Roche. “Did they misinterpret a conversation?”

Allowing them to solve their own problems teaches independence and prepares them for adulthood.

“If you fix all their problems for them as a teen, then when they go off to college they won’t know how to deal with problems. We don’t just give them a driver’s license and tell them to hit the road. First they drive under supervision of a parent or guardian, and then they gradually gain more independence and responsibility,” says Dr. Taraman.

The power of positive reinforcement

Remind teens that they are resilient and competent. They may have trouble remembering past times they have overcome obstacles.

“Positive reinforcement helps encourage certain behaviors you’d like your teen to model,” says Dr. Taraman. “If they want to go to their friend’s house after school and they ask if that’s ok, say “no problem, thank you for asking.” And if they instead tell you they are going, say “Don’t you need to ask permission first?”

Positive reinforcement will also help them develop strong self-esteem. As they develop their identity, encourage your child to reflect on successes as well as challenges.

“During adolescence kids are coming up with self-identify, personal morals and ethics. This all relates to self-esteem. Comparing yourself to others is common but it can also set unwieldy expectations. Identify their unique strengths (for instance music, but not math) and focus on encouraging them to pursue those,” says Dr. Roche.

When to seek help for your teen

Adolescents are prone to addictive behaviors. If they use certain chemicals such as drugs and alcohol, it can hard wire their brain in a certain way. If they are experiencing anxiety or depression and it is not acknowledged and treated, they are more likely to experience those into adulthood.

“It is important to keep an eye out for symptoms of depression and anxiety that extend beyond normal grief and loss. Check in with your child periodically and be aware of changes in behavior pattern. Persistent irritability, sadness, disrupted sleep, and lack of interest and isolation are some things to look out for that likely warrant a check-in with a counselor or psychologist,” says Dr. Romain.

A few days of emotional outbursts might just be a normal sign of adolescence, but if they are persistently practicing abnormal behavior, it may be a sign to seek additional help. Remind your child that you are there for them, says Dr. Taraman, but also empower your teenager to explore the resources available to them, with or without their parents’ help. Suicide hotlines (1-800-Suicide) or adolescent clinics can help them obtain resources without the help of their parents.

“Because adolescents have so many obvious physical changes, it’s easy to forget the cognitive changes going on in this phase. It’s the most exciting change for kids but can be very frustrating for parents,” says Dr. Roche. “Remember to enjoy the experience of watching your kid develop into an adult.”





Learn more about Adolescent Medicine




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How Much Do You Know About the Brain?

There’s no better time than Brain Awareness Week to get a little more familiar with your melon. Test your knowledge about the brain with this quiz.

  1. Which part of the brain is responsible for reasoning, planning, speech and movement, emotions and problem-solving?
    1. Frontal lobe
    2. Parietal lobe
    3. The spinal  cord
  2. This part of the brain handles the perception of stimuli like touch, pressure, temperature and pain.
    1. Temporal lobe
    2. Occipital lobe
    3. Parietal lobe
  3. The perception and recognition of sounds and memory are the responsibility of this part of the brain.
    1. Occipital lobe
    2. Temporal lobe
    3. Cerebellum
  4. Which part of the brain oversees vision?
    1. Spinal cord
    2. Cerebellum
    3. Occipital lobe
  5. Which is false about the brain stem?
    1. It’s responsible for the brain’s highest level of thinking and perception.
    2. It controls the flow of messages between the brain and the body.
    3. It consists of three parts: the medulla oblongata, pons and midbrain.
  6. What is true about the cerebrum?
    1. It’s named after its bell-like shape.
    2. It plays a large role in motor control.
    3. Common signs of cerebellum damage are related to vision.

Check your answers below!

brain quiz

 

  1. Which part of the brain is responsible for reasoning, planning, speech and movement, emotions and problem-solving?
    1. Frontal lobe. This is one of the brain’s four lobes, which comprise the cerebrum.
    2. Parietal lobe
    3. The spinal  cord
  2. This part of the brain handles the perception of stimuli like touch, pressure, temperature and pain.
    1. Temporal lobe
    2. Occipital lobe
    3. Parietal lobe- also responsible for understanding someone’s position in their environment.
  3. The perception and recognition of sounds and memory are the responsibility of this part of the brain.
    1. Occipital lobe
    2. Temporal lobe- also responsible for language and emotion.
    3. Cerebellum
  4. Which part of the brain oversees vision?
    1. Spinal cord
    2. Cerebellum
    3. Occipital lobe- the smallest of the brain’s four lobes. 
  5. Which is false about the brain stem?
    1. It’s responsible for the brain’s highest level of thinking and perception. False- while the upper parts of the brain tackle higher level matters, the brain stem is responsible for the most basic of body functions like breathing, food digestion and blood circulation. 
    2. It controls the flow of messages between the brain and the body.
    3. It consists of three parts: the medulla oblongata, pons and midbrain.
  6. What is true about the cerebrum?
    1. It’s named after its bell-like shape.
    2. It plays a large role in motor control. The cerebellum has some other minor roles, but it is chiefly tasked with movement and coordination. 
    3. Common signs of cerebellum damage are related to vision.

Learn more about neurology at CHOC  Children’s.

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