Our Journey with Infantile Spasm Syndrome: Part 3

At his six-month appointment, Josiah had been on track developmentally. Now, just a few days after he was admitted to the children's hospital and diagnosed with Infantile Spasm Syndrome, we were informed by a hospital pediatrician that his motor skills had lapsed to that of a 4 month old. We already missed the smiles and giggles that we had come to know and love in our little boy. It was clear that he wasn't feeling well.

At night, I would stay with Josiah while Kevin went home (there was only one short couch in the room), and during the day Kevin would stay while I ran home for a shower and a nap. The prayers, visits, calls and words of support from our friends and family sustained us during this time. We were blessed to have repeated visit from Kevin's parents and sisters (who live in the area) as well as pastors from our church and friends who brought us meals, flowers and Starbucks. It was those kindnesses and the prayers of so many that lifted us up and gave us peace.

On Tuesday or Wednesday, we began ACTH injections—one shot in the thigh each morning. ACTH (Acthar Gel) is an interesting treatment. It is a steroid that has been used in treating infantile spasm for many years (nearly 30 in Dr. G's case) and yet they don't know exactly how it works. For this reason, it was only recently approved by the FDA (in 2009). This was great news for us, because ACTH is very expensive and used to be difficult to get insurance to cover. According to Wikipedia:

Once relatively inexpensive, Acthar Gel is currently an extremely expensive pharmaceutical product. Prices per vial have been as high as $47,000.

That is how ACTH got its nickname "liquid gold." ACTH also has some really nasty side effects, including the risk of serious bacterial infections, irritability, digestive problems, uncontrollable appetite, high blood pressure and weight gain. As one of the pediatricians told us, "The medicine is almost as nasty as the disease." While on ACTH, Josiah would have to get his blood pressure taken twice a week and take an antacid.

After we started Josiah on ACTH, his spasms stopped entirely within the day. This was encouraging because Dr. G had told us that the best sign that the treatment was working was for the seizures to stop within three days. Dr. G was also watching to see if Josiah's brain activity would normalize. An EEG a few days later revealed that there were still some abnormal electrical charges going on, but we were relieved that Josiah was no longer having noticeable seizures. He also seemed to be regaining some of his former joy.

Feeling better.

We ended up having to stay at the hospital for almost a week. We started Josiah on ACTH about the middle of the week, but we were not allowed to leave the hospital until we could get the medicine delivered to our home (for obvious reasons). Each day, Josiah seemed a little better and by Friday, when it was time to leave, he was even smiling.

We already had so much to be thankful for, but there were still some difficult days ahead.

Our Journey with Infantile Spasm Syndrome: Part 2

One of several EEGs Josiah received at the hospital. He was so good!

We took Josiah to the emergency room on July 23 because we were noticing what appeared to be seizures. Every few hours (especially after he had just awakened), he would roll his eyes to the top of his head and stiffen his arms and legs several times in a row. At the ER, they treated him with oxygen for lethargy and admitted him to the children's hospital.

The next morning, we met our neurologist. (We'll call him Dr. G.) After observing Josiah over the course of a few days, getting an MRI and a spinal tap to rule out brain injury and meningitis, and viewing the results of Josiah's EEG, Dr. G diagnosed him with Infantile Spasm Syndrome. At first this sounded like good news to us, since ISS is an epilepsy that only affects infants and usually fades away sometime between age 2 and 4 (more later on why it wasn't actually good news). Dr. G explained that the best time to diagnose ISS is 2-3 weeks after the onset of symptoms. It seemed that we were on the outside edge of that window, but it was difficult to know, since Josiah's "fooler" stomach bug had kept us from discovering the ISS symptoms sooner.

Dr. G explained that the primary treatment for ISS—a hormone therapy that involved high-dose injections of a steroid called ACTH—held the best success rate for full developmental recovery (80 percent of those treated) when administered early. However, if ACTH didn't work, the next set of anti-seizure treatments were only 20-30 percent effective for stopping the spasms.

And stopping the spasms was our priority. The doctor explained that while these seizures were not causing brain damage, they were stunting Josiah's development, which at his age was just as serious if it continued. But he reassured us that, "In these cases, it's months, not days or even weeks that make a difference." He instructed us to track the frequency of Josiah's spasms throughout the day (and during the night when we noticed them) and made a plan for starting him on ACTH within the next few days.

That night, I looked up Infantile Spasm Syndrome on the Internet. What I read was terrifying (enter the bad news about the ISS diagnosis). I learned that uncontrolled, Infantile Spasm Syndrome causes mental retardation. By the time spasms fade away on their own around 2 or 4 years old, it is too late to regain the development that has been lost. In some worst-case scenarios I found on forums, parents were caring for teenagers who had only developed to a 3-month level. (I wish someone would have shown me this story about a family who had a positive outcome after their son had ISS.) I realized quickly why ISS is considered a "catastrophic form of childhood epilepsy."


"ET Phone Home." Josiah sported this oxygen monitor throughout his stay.

As we prepared to start Josiah on ACTH, I hoped and prayed that we hadn't caught it too late. When you're a parent, an 80 percent success rate isn't good enough. And, What if it doesn't work? was the question that shot fear through my entire being. My husband and I have a strong faith in God and a personal relationship with Jesus Christ. But these are the situations where the rubber meets the road concerning whether you really believe what you say you believe. I know both Kevin and I struggled during the first few days just with the sadness of what was happening. We understood that bad things happen to people—and sweet babies—who don't deserve them. But we also had no reason to question God's goodness or faithfulness. And our journey of faith with Josiah was just beginning ....

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.