With Infantile Spasms Awareness Week recognized Dec. 1 through 7, we spoke with a CHOC Children’s neurologist about this type of epilepsy that occurs in young infants typically between ages 3 and 8 months.
Infantile spasms should be considered a medical emergency due to the potentially devastating consequences on the developing brain, Dr. Mary Zupanc, chair of neurology at CHOC, says. Immediate treatment is critical because many children with infantile spasms go on to develop other forms of epilepsy.
“A developing brain undergoing an ‘epileptic storm’ essentially becomes programmed for ongoing seizures and cognitive/motor delays,” she says.
Here’s what parents should look for when potentially identifying infantile spasms:
Infantile spasms often happen in clusters, with each spasm occurring every five to 10 seconds over a period of 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
If infantile spasms are confirmed, the first line of treatment employed by CHOC neurologists is a high-dose adrenocorticotropic hormone, or ACTH. The course of therapy is about six weeks, and the treatment is administered by injection. Because parents are often initially afraid to inject their baby, CHOC neurologists and nurses work closely with families to help them become comfortable with the process before heading home.
The effectiveness of ACTH may be as high as 85 percent, and the treatment has better success rates if started within four to six weeks of seizure onset. Seizure control and a normalized EEG reading mark a successful therapy.
Children undergoing ACTH might have some side effects including high blood pressure, increased appetite and weight gain, elevated sugar in the blood, temporary suppression of the immune system, and sometimes an upset stomach. All side effects are monitored during treatment and disappear at its conclusion.
The causes of infantile spasms vary. Some children may have tuberous sclerosis, a multisystem disorder; abnormalities in the brain’s formation; stroke; an infection such as meningitis or encephalitis; trauma; or genetic disorders such as Down syndrome or defects in the metabolism of proteins, sugars, and fats.
Happy Thanksgiving! My name is Karen Stapleton, and my son Noah is a patient at CHOC Children’s. As I prepare to celebrate the holidays with my family, I’m grateful we can be together since we have so much to celebrate. I’m also grateful for Noah’s many doctors and nurses at CHOC because without them, my son wouldn’t be alive.
Noah’s birth story
When I was 29 weeks pregnant with Noah, we learned that he had Down syndrome. Another prenatal ultrasound showed an abnormality in his heart, and we were referred to Dr. Pierangelo Renella, a pediatric cardiologist at CHOC, who diagnosed Noah with tetralogy of fallot, a serious heart defect that causes poor oxygenated blood flow from the heart to the rest of the body. I was scared, but having been a CHOC patient myself as a child, I knew my son would be in good hands.
On July 27 of last year our lives changed forever— Noah was born! I chose to deliver at St. Joseph Hospital in Orange so that my son could be as close to CHOC as possible. When he was born, there were so many doctors and nurses around. I saw Noah quickly enough to give him a kiss before he was whisked away to the Neonatal Intensive Care Unit (NICU) at CHOC.
Shortly after birth, Noah’s care team also diagnosed him with Apert syndrome, a genetic disorder that causes certain bones to fuse early. For Noah, that was his skull, fingers and toes.
It was a success, and 31 days after he was born, Noah finally came home! Weekly trips back to CHOC’s clinics included visits to gastroenterology, pulmonary, cardiology and craniofacial specialists. It was another team effort to prepare Noah for a second open heart surgery that he would eventually need.
But a few weeks later, Noah had respiratory complications, which lead to an emergency open heart surgery at just 2 ½ months old. Thanks to Noah’s cardiothoracic surgeon, Dr. Richard Gates, and Noah’s fighting spirit, he was able to come home shortly after surgery.
Celebrating Christmas at CHOC
Just days before Christmas last year, Noah had to be admitted to CHOC for respiratory failure. It was scary to see my baby sedated for 19 days. Dr. Juliette Hunt, a critical care specialist, recommended that Noah undergo a tracheostomy, where a small opening is made in his windpipe and a tube is inserted to help him breathe. Making a decision like that is hard and scary for a mom, but I had complete trust in Noah’s team, and if they knew it would help Noah breathe easier, then I knew it was the right thing to do.
After that, Noah started to thrive. He gained weight and became strong enough for his next open heart surgery with Dr. Gates. After a mere six days in the Cardiovascular Intensive Care Unit following this surgery, Noah got to come home again!
Even when Noah is doing well, sometimes it can be scary to care for him when he’s at home. During one of our hospital stays, I confided this fear in one of Noah’s favorite nurses, Karissa. She gave me specific tips on what to do during his tummy time and baths, and gave me the courage to care for my son. She encouraged me, and reminded me that CHOC wouldn’t advise me to do anything that wasn’t safe.
Noah’s first birthday
All of this is a lot for a little baby to go through before his first birthday, but Noah has always surprised us and pulled through. Celebrating his first birthday meant more than celebrating his first year of life; it meant celebrating every fight Noah had won over the last year, and it meant appreciating a milestone that at times we thought we might never reach. We decided a super hero theme was perfect for his party because we think of Noah as our little super hero.
After his birthday, Noah continued to flourish and grow! He started rolling over and actively playing, and he has not stopped smiling.
This progress allowed us to prepare for his next major surgery, a frontal orbital advancement, to reshape his skull and forehead that has fused too early due to Apert syndrome.
Before surgery could begin, the doctors needed to cut Noah’s hair to make a safe incision in his skull. We marked another one of Noah’s milestones at CHOC— his first haircut!
Noah has more hurdles and additional surgeries ahead of him, but even with how much he’s fought, he continues to smile. He’s not cranky and he doesn’t cry. He’s enjoying every single day he gets to be here – and that’s the life he has taught me to live too.
If Noah’s care team ever needs a reminder of why they do what you do, I tell them: My son would not be here today if it were not for each and every one of them here at CHOC. And for that, my family will be forever grateful.
“The seizures flipped our family. We didn’t go anywhere. We wouldn’t want to leave her with anyone. It was a deep dark hole for a few years,” Deena says. “To see her flourish and open her wings and experience life now is amazing.”
Now 9, Mareena began experiencing seizures at around 10 months old. After a normal birth and infancy, she suddenly started rolling her eyes backward and going limp.
For years, the family went from hospital to hospital and doctor to doctor, looking for an explanation. Walking, talking and developing normally, Mareena would grow out of it, physicians told the family.
By age 4, Mareena was enduring up to 20 seizures a day, mostly linked to sleep. Medications were not working. Deena and her husband would take turns sleeping in their daughter’s room, desperate to record every seizure in hopes of finding a pattern.
Mareena’s parents reached their breaking point in fall 2011. One morning while eating breakfast, Mareena seized, fell from her chair and hit her head on the tile floor. That was enough. Mareena needed help badly, and they turned to Dr. Mary Zupanc and CHOC’s comprehensive epilepsy program.
“Within the first five minutes of the appointment, Dr. Zupanc told us that Mareena’s medication wasn’t working, and because epilepsy is a progressive disease, it was critical that we find a new solution quickly,” Deena recalled.
Mareena began undergoing extensive testing, including long-term video electroencephalogram (EEG) monitoring to determine seizure type and seizure frequency. During that time, Dr. Zupanc first broached the subject of surgical intervention to help Mareena.
“The idea of brain surgery was scary,” Deena recalled. “But at the same time, it was a relief, especially after all the years we lost while trying to convince doctors that something was wrong”.
In May 2012, the family began the process for surgical intervention, including an MRI scan of the brain to look for subtle structural changes in the brain and a PET scan, which looks at glucose metabolism in the brain.
Mareena’s case was then reviewed by a group of CHOC physicians. The physicians, including Dr. Zupanc, were in agreement that Mareena should have epilepsy surgery. However, in order to identify the exact seizure focus, invasive EEG monitoring was required. This means that electrodes had to be placed directly on the surface of the brain. Over a series of days, Dr. Zupanc and the other epilepsy specialists determined that the seizures were coming from the brain’s left temporal lobe. Next, surgeons removed that portion of the brain.
Mareena has been seizure-free ever since. She still takes one low-dose of antiepileptic medication, but her visits with Dr. Zupanc have reduced significantly. She no longer requires long-term video EEG monitoring or other studies.
Mareena is now headed for third grade. Though she does have some mild cognitive delays—due to the underlying cause of her epilepsy and her prior high seizure frequency, she is thriving and doing very well. Deena says people are shocked when they learn about Mareena’s history.
Five-year-old Ian Higginbotham recently enjoyed his best summer yet. He experienced his first family vacation. He learned to swim and ride a bike. He got himself ready for kindergarten. These are milestones most kids and parents, alike, eagerly welcome. But there was a time when Ian’s parents weren’t certain their son, who was born seemingly healthy, would enjoy such happy pastimes.
Ian began talking and walking in his sleep as a toddler. When the episodes, including night terrors, increased in frequency and severity, his mom Lisa made an appointment with the pediatrician. One day, Lisa knew something just wasn’t right and didn’t want to wait for the appointment to get Ian checked out. She and her husband Derek took him to the Julia and George Argyros Emergency Department at CHOC Children’s Hospital. To her surprise, doctors diagnosed her son with epilepsy. Ian’s “sleepwalking” and “night terrors” were actually seizures.
The family was referred to CHOC’s comprehensive epilepsy program. A national leader in pediatric epilepsy care, CHOC’s comprehensive epilepsy program offers cutting-edge diagnostics, innovative medical approaches and advanced surgical interventions. CHOC was the first children’s hospital in the state to be named a Level 4 epilepsy center by the National Association of Epilepsy Centers, signifying the highest-level medical and surgical evaluation and treatment for patients with complex epilepsy.
Ian’s neurologist Dr. Andrew Mower suspected he was experiencing complex partial seizures, which was confirmed by video EEG monitoring. Complex partial seizures start in a small area of the temporal or frontal lobe of the brain, and quickly involve the areas of the brain affecting alertness and awareness. The pattern of Ian’s seizures suggested they were originating from the right frontal lobe. Dr. Mower knew Ian and his family were in for a tough journey.
“I really don’t think the general public understands the impact epilepsy has on a child and his family. Its effects are multifaceted and extensive. Our team’s goal is to reduce or eliminate our patients’ seizures, helping improve their quality of life,” explains Dr. Mower, who placed Ian on a series of medications.
The medications reduced Ian’s seizures, but did not control them. Dr. Mower was concerned about the seizures affecting Ian’s development, and presented his case to the epilepsy team. The multidisciplinary team agreed Ian was a candidate for epilepsy surgery. For children who fail at least two medications, surgery may be considered early in treatment versus as a last resort. Surgery can result in an improvement in seizure control, quality of life, and prevent permanent brain damage. Ian’s surgery was going to be performed by CHOC neurosurgeon Dr. Joffre Olaya.
While the thought of surgery was frightening to Lisa and her husband, they were confident in the team and comforted to know their son was going to benefit from innovative technology, like the ROSA™ Robot. Considered one of the most advanced robotized surgical assistants, ROSA includes a computer system and a robotic arm. The computer system offers 3D brain mapping to aid surgeons in locating the exact areas they need to reach and planning the best surgical paths. The robotic arm is a minimally invasive surgical tool that improves accuracy and significantly reduces surgery/anesthesia time.
Dr. Olaya used ROSA to accurately place electrodes in the area of Ian’s brain suspected to be the source of his seizures. By using the robot, Dr. Olaya avoided performing a craniotomy (surgery to cut into the skull, removing a section called a bone flap, to access the brain).
“ROSA is an amazing tool that yields many benefits for our patients, including less time under anesthesia in the operating room. It reduces blood loss and risk of infections. Patients tend to recover faster than they would if they had craniotomy,” says Dr. Olaya.
Lisa was amazed at the outcome. “I couldn’t believe how great Ian looked after the placements of the electrodes with ROSA. He wasn’t in any pain, there was no swelling. It was wonderful!”
She and her husband were also amazed at how well Ian did following his epilepsy surgery.
“We got our boy back,” says Lisa. “There were no more side effects from medication and, more importantly, no more seizures! He started developing again and doing all the things a child his age should do.”
Ian’s care team isn’t surprised by his recovery.
“Children are resilient, and their brains are no different. In fact, the plasticity of a young brain allows it to adapt to changes and heal more easily than an adult brain,” explains Dr. Mower.
Learning to ride a bike and swim were among the first of many milestones Ian quickly reached following surgery. He enjoys playing with his younger brother and his friends. And, whether inspired by his experience with ROSA or not, Ian loves robots.
The spread inside a conference room in CHOC Children’s neuroscience unit would be a welcomed sight for any parent: a box of glistening bagels, jugs of steaming coffee, and a warm smile from Kathy Lear.
Whether it’s by offering nourishment or a kind word of encouragement, Kathy stands ready to help a fellow parent of a child contending with epilepsy or other complications.
“We’re trying to do these breakfasts once a week,” she says. “It’s nice to help out.”
After all, it’s a journey that Kathy’s intimately familiar with.
After her son Matthew’s typical birth and toddlerhood, signs that something was amiss appeared in kindergarten. Suddenly, Matthew would start ignoring his parents. Thinking it odd, they made an appointment with the pediatrician.
But before the appointment rolled around, Matthew’s school called one afternoon. Administrators were concerned that he had experienced an absence seizure – a type wherein someone suddenly stares off into space.
At CHOC, an electroencephalogram confirmed that Matthew was indeed d having seizures. He was diagnosed with epilepsy on Halloween 2008, just days before his sixth birthday.
Matthew began care under Dr. Mary Zupanc, director of CHOC’s pediatric comprehensive epilepsy program. The years that followed would be marked by a series of attempts to control Matthew’s seizures, including antiepileptic medication, a special diet and two epilepsy surgeries.
The epilepsy surgeries were palliative procedures, which would partially control the seizures, but not cure the epilepsy or stop all of the seizures. Inevitably, the seizures, although less frequent and less severe, would start again.
Ultimately, Dr. Zupanc recommended implantation of a new type of vagus nerve stimulation device, which sends electrical signals to Matthew’s brain to stop the seizures. Implanted by CHOC neurosurgeon Dr. Joffre Olaya, the device has brought relief to Matthew and his family.
“It disrupts any seizures that might be starting,” Kathy says. “It’s caused a dramatic increase in his ability to respond to us. It has made just a world of difference.”
Matthew now has quarterly visits to the hospital. Now 13, Matthew is doing well, attending special education classes in middle school, and participating in several sports through a recreational league.
“He’ll never be off his medication, but we do hope that we might have seizure freedom again,” Kathy says. “He’ll never not have to deal with epilepsy.”
Between his surgeries, seizure monitoring and other visits, Matthew’s time in the hospital totaled at least six months, Kathy estimated. And without the support of their family, friends and community, the journey would have been nearly impossible for the Lear family, Kathy says.
“We as a family couldn’t have done it without the support of our family and friends,” she says. “It really does take a village. Between bringing us meals, visiting in the hospital, coming back and forth to sports practices – just little things like that really helped.”
That support network has also helped give Kathy the time to make it a priority to help others who are also dealing with epilepsy.
She’s a parent representative on one of CHOC’s clinical practice councils, which help evaluate and improve patient care. Kathy also serves on CHOC’s Family Advisory Council, a diverse group of adult family members who meet regularly to provide input on decisions, initiatives and discussions.
That role brought her to the recent breakfast in the neuroscience unit. Made possible by a grant, the spread is hosted by CHOC’s Patient- and Family-Centered Care team, which supports CHOC’s philosophy that patients and families are part of the care team.
The breakfasts are designed to offer support and comfort to families who find themselves on the unit for days at a time, often while their children are undergoing testing or experiencing other complications.
“Sometimes it’s as simple as parents asking where they can find toothpaste. I tell them that we can definitely help,” Kathy says with a laugh.