Our Journey with Infantile Spasm Syndrome

Josiah and Mommy in Estes Park, Colo., three weeks before he was diagnosed with Infantile Spasm.

I haven't been keeping up on this personal blog, because I have several other writing outlets that have been consuming my time. However, I want to write about our journey with Infantile Spasm Syndrome (ISS) to help and encourage other parents who are going through the same thing. When our son was diagnosed with it at the end of July 2011, I discovered that very few people had heard of ISS, let alone experienced it. Because of all the unknowns in the diagnosis and treatment of Infantile Spasm (also known as West Syndrome), the condition can be a frightening one for parents to navigate. Note: I am not a doctor. Everything I will be telling you about Infantile Spasm, I have gathered from the Internet and our doctors.

According to the website "Understanding Infantile Spasms" (the most helpful site I found on the condition):

Infantile spasms is an uncommon epilepsy syndrome that typically begins in infancy. Also known as West syndrome, it was first characterized by Dr. William James West in the mid-19th century as he sought help for his own affected child. Infantile spasms is considered to be a “catastrophic childhood epilepsy” due to the difficulty in controlling its symptoms and the developmental problems that can occur as a result of IS.

Infantile Spasms typically begins in the first 4 to 8 months of life and is characterized by flexion (bending and jerking) of the trunk (torso) or neck and extremities (arms and legs). An episode can range from a subtle head jerk to a flexion that lasts for a few seconds. Most often, the spasms occur in clusters.

Infantile spasms are characterized by hypsarrhythmia (hips-A-’rith-mE-uh), a highly disorganized and chaotic pattern of electroencephalogram (EEG) abnormality. The presence of hypsarrhythmia, which does not typically occur with other forms of epilepsy, can help to confirm a diagnosis of IS. Furthermore, there is a strong correlation between hypsarrhythmia and the cognitive impairment (damage) and developmental delays that are often associated with infantile spasms. That’s why an EEG is so important; it helps determine what the underlying disorder is that needs to be treated.

Our son was born in December. Up until 7 months, he was a bright, happy, normally-developing baby. Around July 1, he contracted a stomach bug. I took him to the pediatrician twice and each time they said that it was going around and he might not act like himself for several weeks. This illness is what our neurologist later referred to as a "fooler." It had nothing to do with the ISS, but it interfered with our ability to recognize that something else was going on.


We thought his lethargy was due to a stomach bug he got around July 4.

During the first three weeks of July, Josiah was lethargic and exhibited some other unusual symptoms, such as his head dropping suddenly during feedings and rolling his eyes up several times in a row. I called the pediatrician each time but was told that babies do a variety of "new" things at this age and I should just keep an eye on him and not be concerned. Finally, the third week, we took him in for the eye rolling symptom. Our doctor was on vacation, but the doctor we saw suspected they could be minor seizures and encouraged us to schedule an EEG.

Let me insert an important note here: If you are ever told to order an EEG for your baby, call a neurologist immediately. He or she can schedule it within 48 hours. The referral process my pediatrician ordered, scheduled Josiah's EEG for a month and a half later! (Four days after I scheduled that appointment, he was in the hospital.)

Infantile Spasm is just rare enough that many pediatricians have never seen a case of it. Therefore, unless they are erring WAY on the side of caution or have the diagnostic skills of Greg House, there's a good chance they won't catch it in a timely manner—and timely is crucial with IS. On Thursday we took Josiah to the doctor. Saturday morning we called the office again to report that he now was stiffening his limbs each time his eyes rolled up. The nurse told us she would tell our pediatrician on Monday but that we were, of course, free to take him to the ER if we were uncomfortable with waiting. Thanks to the prompting of my mother-in-law and sister-in-law, who had witnessed the spasms, we took him to the ER that morning.

The ER staff was very concerned about how lethargic and unresponsive Josiah was and immediately put him on oxygen. They also ordered blood work and admitted him to children's hospital. I will continue this story in my next post, but the old advice is true: When it comes to your child, follow your intuition. If you think something is wrong, it probably is, and the cost of an ER visit or an EEG is a small price to pay to make sure everything is alright.