Melissa and Rob Williams’ parenting nightmare began with the sounds of laughter in the kitchen.
Essley, the couple’s 2-year-old daughter, was playing with her 7-month-old brother, Emmett. But when Melissa came in to join the fun, the sight of Emmett’s bobbing head didn’t make her laugh.
“I looked at what he was doing and thought, ‘That’s weird,'” she recalled.
Five days later, the St. Charles family found themselves in a hospital room. Sensors and tubes covered Emmett’s body as Melissa and Rob stared at the display screen of an EEG monitor and sought Google’s counsel on how to interpret what they saw. Doctors would tell them Emmett had a rare form of epilepsy that, in most cases, causes major developmental problems.
The best hope for Emmett, they said, would be to never figure out exactly what was wrong.
About 3 million people nationwide have some form of epilepsy, according to the Epilepsy Foundation of Greater Chicago. In the metropolitan area, about 130,000 people have the condition, and of those, about 20,000 are children.
They have one common goal — stop the seizures. That goal is just as far away as it was 40 years ago when epilepsy research began making progress in treatment, Epilepsy Foundation CEO Kurt Florian said.
“The area we need to be spending more money and time on is research,” he said. “If you go back 40 years, there were two big drugs that people could take and get, more or less, control of their seizures in about 60 percent of cases. Now we have about 20 drugs out there, with way less side effects, but we’re still at a significant level of people who don’t get control over their seizures. We haven’t really gotten any better at getting control over epilepsy.”
The key with infantile spasms is identifying the spasms as soon as possible and stopping them.
The spasms are easy to miss. They don’t involve any dramatic thrashing or violent movements. They are as short as a hiccup or the movement a baby makes when startled. At worst, they resemble a baby with the very common problem of reflux.
“They didn’t look like seizures at all,” Melissa Williams said. “But the way his eyes moved up, it just looked odd.”
Melissa had gone through all the hazing about being a paranoid mom with the birth of Essley. She knew the worst part about being paranoid was being told you were paranoid.
She took video of Emmett’s spasms and showed them to other parents. They dismissed them as normal baby movements. But they kept happening. And they didn’t seem normal to Melissa.
She decided her peace of mind was worth the paranoia. A trip to the pediatrician led to a referral to Dr. Steven Coker, a pediatric neurologist with Northwestern Medicine.
Then came the tubes and sensors. An MRI. An EEG. A spinal tap. Genetic testing.
“At that point, I was catching every third word coming from the doctors and nurses,” Rob Williams said. “It was just this sense of, ‘What is happening?’ I felt like I was watching this whole thing unfold in the third person, like a movie, but it was my son, and it was happening to us.”
Dr. Coker’s diagnosis — infantile spasms — devastated Melissa and Rob. They’d read about the condition online. And they knew it meant the window for Emmett having the best outcome closed a little more every time he had a spasm. Melissa went to the hospital cafeteria and “ugly cried.”
“All these statistics hit me about how this could be really, really bad,” she said.
At its heart, “epilepsy” is a term that describes uncontrolled electrical activity in the brain. But that activity can result in a host of physical and neurological problems. In children, it can impede development. With infantile spasms, a baby who had started to crawl, turn over and babble can regress back to a stage similar to the first weeks of life at home.
Melissa and Rob struggled with the question that would be on any parent’s mind — why?
There are hundreds of causes for epilepsy. They range from structural problems in the brain to brain trauma and 87 known genetic causes. With many medical conditions, treatment relies on figuring out the cause of the problem. Dr. Coker told Melissa and Rob to pray for the unknown.
“With infantile spasms, if we find a cause, that may not be good,” Coker said. “Once we know, then the outcome for that patient takes on whatever disease caused the spasm. But if we do all the testing and find nothing, that’s probably the best outcome.”
Coker’s strategy was to employ an aggressive regimen of hormones. For nearly nine weeks, Melissa and Rob would inject Emmett in the leg twice a day with a $34,000 gel that would stimulate his adrenal gland to create its own super dose of steroids.
They crossed their fingers. There are no double-blind, controlled studies that formed the playbook to treat infantile spasms. Coker relied on his experience and “just logic” to inform his strategy: Stop the spasms. Do it fast.
The side effects were severe. Emmett had an insatiable hunger that required nursing and jars of baby food day and night. He wanted to be held all the time, resulting in Melissa and Rob sleeping with Emmett in their arms while sitting up every night. He didn’t smile for 10 days.
Melissa recorded her feelings on her blog: “I am terrified,” she wrote. “This is hell. But I believe. Just like I had a strong maternal instinct that told me something was wrong when it looked like absolutely nothing, I have a strong instinct telling me that Emmett is going to pull through this one and be one of the exceptions.”
If infantile spasms are a rare condition, then having the best outcome after its diagnosis is an even bigger outlier. Between 80 percent and 90 percent of children diagnosed with infantile spasms have long-term neurological problems.
Even in situations considered to be the best outcomes, about 70 percent of those children will have problems, such as other forms of epilepsy, down the road. It could happen months later. It could happen years later. Or never at all.
Emmett has not had a seizure for about six months. Melissa and Rob are nervous optimists.
“From here on, it’s the not knowing that’s the hardest,” Rob said. “It could be years before we see a speech delay or some other problem. And you keep waiting for it. The best way for me to handle it is to just feel very lucky and that, deep down, he’s going to be OK regardless of what happens. If there’s any setbacks, delays, I just believe he’s going to be fine, regardless.”
Epilepsy by the numbers
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