When Miguel Cervantes and his wife, Kelly, first found out something was wrong with their daughter, they "started Googling around about infantile spasms, and it was just terrifying," Miguel Cervantes told People magazine.
That's likely how most parents would react when hearing the phrase 'infantile spasms', since it's not a common infant illness, like colic or jaundice.
Many parents' natural response is to search and scour the internet for answers, solutions and clarity.
Two months later, around the same time Cervantes landed the role of Alexander Hamilton in the Chicago production of the Broadway hit, his daughter was diagnosed with infantile spasms.
Kelly Cervantes announced Oct. 13, on Twitter that their three-year-old daughter, Adelaide Cervantes, had died after suffering from the neurodegenerative disorder. She was under hospice care for the last several days.
Dr. Douglas Nordli, chief of pediatric neurology and epilepsy at UChicago Medicine, said there are many types of infantile seizures, but infantile spasms are the most important to recognise.
"Infancy, in general, is a special time of life where it carries the greatest risks for cognitive impairment, and even mortality," he said. "So I think there's a special emphasis upon evaluations for infants with suspicions of seizures."
Below are a few answers to questions parents might have about infantile spasms.
- What are infantile spasms?
In short, infantile spasms, also called 'West syndrome', are a rare epilepsy syndrome that typically occurs during the first year of life, specifically around 3 to 8 months. The diagnosis is clinically characterised by sudden involuntary jerks of the body and developmental regression; it sometimes is accompanied by a specific, abnormal brain wave pattern.
- What does it look like?
Sometimes the spasms of the seizure can be subtle, like head nods or wide eye opening with eye deviation. Often, the seizures look like a sudden bending forward at the waist as the arms and legs stiffen, usually lasting for one to two seconds, according to NORD, the National Organisation for Rare Disorders.
This can often be mistaken for a baby being sleepy, since the spasms can occur in transition time periods, like going to sleep or waking up. Some children arch their backs as they extend their arms and legs. Spasms often happen back to back or in multiple clusters, and can occur many times in one day. "It's typical of a baby (who has IS) to have two to three clusters a day, lasting between 15 to 20 minutes," Nordli said.
- How common is it?
For every 10,000 births, two to three children will be affected by infantile spasms, based on information from NORD. Males are affected a little more, making up approximately 60 per cent of known cases. Family history plays a small role in a child acquiring the syndrome, with 3 per cent to 6 per cent of cases having a background with infantile spasms.
Child neurologists may see IS cases every couple of weeks, Nordli said. "It's not uncommon for us," he said. But paediatricians, he said, might see one happen once or twice in their whole career. "For a pediatrician, it's very rare," said Nordli, "so that's where I think (increasing) public awareness is good."
- Is there a cure?
There are a variety of effective treatments for many forms of IS, Nordli explained. "Over the years, we've learned which medications work best and how to use them. At the same time, many times we're just addressing symptoms and not the root cause. We definitely need more research on identifying root causes and not just dealing with symptoms."
- Is there usually an underlying cause?
When research first started, specialists had a hard time figuring out what was causing IS. Now, Nordli said, they can figure it out.
"Sometimes, it's something that occurred beforehand, sometimes it's an abnormality and, increasingly, it's a new genetic mutation that's causing it," he said. Many babies who have IS already have had neurological impairment before the onset of spasms, according to the National Institute of Neurological Disorders and Stroke. While infantile spasms usually cease by mid-childhood, more than half of the children who had IS as infants grow up to experience other types of seizures.
- Any early signs or symptoms?
Children who have IS may: stiffen their legs or tuck them into the belly as if having stomach pain; suddenly bend at the waist; drop or bob their heads briefly; roll their eyes back suddenly with subtle head nodding; or lose their balance while sitting up with their arms in the air.
- What should parents do when they notice something?
"Take a video of (the seizures)," suggested Nordli, since the spasms recur and last many minutes in a cluster. "A video is helpful for us as physicians to say, 'Are we concerned or not?' "
Nordli also emphasises bringing the child and the concern to the attention of a physician quickly. "Time is important," he said, "so if there's a concern, we'd rather err on the side of evaluation. At minimum, it can be the doctor taking a look at the video and examining the baby. If it's suspicious, we like to get (a brainwave) test very quickly."
Even though pediatricians see fewer infantile spasms cases, Nordli said to go to your pediatrician first. "If the concern is raised, then that becomes a very urgent referral to a child neurologist."