Zane Forges Ahead
When Zane Guillaume had his first spasm at about 4 months of age, it came and went very quickly. “His eyes locked up, and he extended his right arm rigidly,” says his mother, Holly Guillaume. “It was very brief, but I knew it wasn’t normal.”
The following day, as Zane was falling asleep, it happened again. “The second episode lasted much longer,” Guillaume says. “It wasn’t a typical convulsion like you see portrayed on television, so we weren’t sure it was a seizure. Our on-call pediatrician recommended getting a video and told us to take him to the medical center.”
In the emergency center of a local children’s hospital, Zane appeared to be normal. While Guillaume filled out paperwork, Zane started dozing off and experienced another episode, which she captured on her phone. After viewing the video, the attending neurologist admitted Zane to the hospital. A week later, he was discharged with a diagnosis of epilepsy and prescriptions for several medications.
A Confusing System
But Zane’s spasms continued. “They were coming six hours apart, then four hours apart and by morning, they were only an hour apart and we couldn’t reach the on-call neurologist,” Guillaume says. “It was rush hour, and we went to the emergency center closest to us, not knowing then that each hospital is very different.”
The Guillaumes endured multiple physician office visits, hospitalizations and unsuccessful treatments before finding pediatric epileptologist Gretchen Von Allmen, M.D., medical director of the pediatric epilepsy monitoring unit at Children’s Memorial Hermann Hospital and director of the Pediatric Epilepsy Program and assistant professor of pediatrics in the division of Child and Adolescent Neurology at McGovern Medical School at UTHealth. Guillaume considers the encounter a stroke of luck.
“She was a breath of fresh air in a terrible situation,” Guilliame says. “Finally, I had a doctor who was paying attention to us.”
After a preliminary evaluation, Dr. Von Allmen scheduled Zane for further testing in the epilepsy monitoring unit (EMU) at Children’s Memorial Hermann Hospital. The EMU is the largest and most comprehensive unit of its kind in the region. Patients are referred to the EMU when they are experiencing seizures of unknown cause or medically uncontrolled seizures, or when they are being evaluated for epilepsy surgery.
“Infantile spasms, also known as West syndrome, are one of the most urgent conditions we treat in pediatric neurology because they affect development so dramatically,” says Dr. Von Allmen, who also serves as co-director of the West Syndrome Center of Excellence at McGovern Medical School, a comprehensive center that provides treatment for West syndrome and infantile spasms to patients from around the world. “They usually occur in infants from 3 to 6 months of age, and present with a classic triad of symptoms – a specific seizure type, developmental regression and an irregular EEG pattern called hypsarrhythmia.”
Issues with Infantiel Spasms
One of the difficulties with infantile spasms is detection. “If the spasms are subtle, it may take parents awhile to become alarmed about them,” Dr. Von Allmen says. “What they may begin to notice instead is developmental regression. Suddenly, a child has problems doing what he could do before. If a child could roll over, he stops. If he smiled and was very interactive, he stops. The child becomes a different kind of baby. Such was the case with Zane. As his seizures progressed, he made less eye contact and became less interactive. He began to lose his developmental milestones.”
Hypsarrhythmia is an electroencephalographic abnormality marked by chaotic, high-voltage background activity and abnormal spikes that involve all cortical areas of the brain. “When we review an EEG that shows this pattern, we know immediately that the diagnosis is infantile spasms,” Dr. Von Allmen says. “It’s important to identify this condition and begin treatment immediately. Zane’s symptoms were more subtle than those of many infants we see.”
The first step in treatment was to start an appropriate medication for infantile spasms and to wean Zane – one by one – off the multiple ineffective seizure medications he was already taking. “A few medications have been shown to be more effective in controlling infantile spasms, including vigabatrin and adrenocorticotropic hormone (ACTH),” Dr. Von Allmen says. “These medications should be used as the first line of treatment, though they are not logistically simple (they can cause rapid weight gain and other side effects and involve a large amount of effort for everyone, especially parents).”
Guillaume had an idea of what Zane’s treatment plan might be, based on Internet research she had done before finding Dr. Von Allmen. “She and her team took the time to explain the options and how they would help,” Guillaume says. “Unfortunately, it wasn’t a quick fix. Zane did not respond immediately to vigabatrin and had to be followed on a weekly basis, but thankfully, he did respond to ACTH.”
Within a few weeks after starting ACTH injections, Zane was seizure free and began to recover some of the developmental milestones he’d lost. “While it hasn’t been proven in long-term studies, we believe the sooner you stop the seizures, the quicker the child can move beyond the developmental regression and stagnation associated with infantile spasms,” Dr. Von Allmen says. “With Zane, once we got to the steroid injections, it was a straightforward progression. He didn’t have any major side effects and has remained seizure free. His EEGs have been normal, and he’s catching up developmentally.’
“Educating parents and pediatricians to recognize the disorder and start treatment early is essential,” Dr. Von Allmen says. “Our goal is to get children who have a first seizure into the clinic within one to two weeks of the episode, establish a diagnosis and begin the right treatment as soon as possible. If we hear of new seizures in an infant that sound like infantile spasms, we consider this a medical emergency and get them seen right away. We look for underlying disorders – birth injury, metabolic disorders, structural problems in the brain and genetic disorders – because finding the cause may change the treatment. In some children, no underlying etiology can be found, and these children may be less likely to have other types of seizures later.”
Since the seizures stopped, Zane has progressed physically and socially. “Within a few weeks, we started to see his smile come back, then his giggle,” says Guilliame. “We saw milestones he had lost return. Then we saw new ones. Now we have cute videos of laughter and pictures of his spaghetti-stained face. With physical therapy, we helped him learn to crawl, learn to eat and learn to walk. Now he’s jumping, dancing, climbing and nearly running. He is becoming quite the toddler, testing limits with a smirk on his face and a twinkle in his eye.
“The whole team at Children’s Memorial Hermann Hospital has done a great job of giving us hope but at the same time making sure we understand how serious a condition he has,” says Guilliame. “We are thankful for a great doctor who got us in right away, gave us a diagnosis and started the right treatment. Zane finished his ACTH wean and is doing really well.”
“There is nothing more rewarding than seeing children blossom when they are properly diagnosed and treated,” says Dr. Von Allmen. “From there, it is our job to make sure they remain seizure free to maximize their developmental progress.”
“Zane is lucky,” says Guilliame. “But, part of his luck was finding his neurologist. He would not be where he is today without Dr. Von Allmen and her wonderful team.”