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Infantile spasms awareness week
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What is Infantile Spasms

Our Story

It was August of 2009 and my son Benjamin was six months old. Our entire family (which included Ben, my husband, Ryan, and our two-year-old son, Xander) was getting ready to go Maine on vacation in three days. On that night, we were eating dinner late and Ben had been nodding off like he was falling asleep. I just figured he was tired, so no big deal, we put him to bed.

Emily and Ben - Infantile Spasms

The next day he woke up and he did it again; he looked like he was nodding off, but his eyes were deviated (not aligned with each other) and his left arm kept shooting out in a spasm like motion. I have a nursing background - I worked in an ICU (intensive care unit) with patients suffering from neurological conditions (brain and spinal cord injuries), so I knew something wasn't right. I took him right away to my pediatrician. Thank God I knew what to look for and what to describe. I got a referral to a pediatric neurologist that same day. We went there and they had Ben undergo a 24-hour EEG (measures and records the electrical activity of the brain helping to diagnose epilepsy). We would not get the results for one week, they said.

I was obviously still very concerned. I asked the doctor if it was all right to go on vacation. She said we should not change our plans and we were given rescue medication in case he had a seizure that lasted more than a few minutes. The doctor seemed to think Ben's condition wasn't anything serious and that he wasn't developmentally delayed; in fact, Ben was developmentally advanced, already rolling over and doing other things sooner than normal. He was a normal, happy, healthy six-month-old baby at that point, so we decided to continue with our plans and we went on vacation.

I tried not to freak out on the trip, but it was hard not to. Finally, after six days, we got the results back and they asked us to come in and speak with the doctor. She sat us down and told us Ben had infantile spasms (also known as "IS," is an uncommon form of epilepsy that typically begins in infancy). I had never heard of infantile spasms before, but she said his prognosis was good. She said we're going to treat him with Depakote (used to treat various types of seizure disorders. Depakote is not approved by the U.S. Food and Drug Administration to treat infantile spasms) and wrote us a prescription. So, we went to the emergency room at a hospital near us to get him started on a loading dose of IV Depakote.

At that point I started to do research on infantile spasms; I scoured the internet trying to find anything I could, I read blogs from parents of children with IS, I went to the medical library at the hospital and the more I read the more upset I became learning about IS and the terrible prognosis most children with IS have.

I was totally distraught so I brought up my research to our pediatric neurologist and she acted like it was no big deal, so I thought maybe I was being crazy. But I said, if this is infantile spasms shouldn't we try Vigabatrin (FDA-approved anticonvulsant seizure medication for IS) or ACTH (FDA-approved steroid hormone therapy medication for IS)? She said no, let's try this first and see. So again, I thought, well…okay, she's the doctor, so Ben continued on Depakote.

After a few days on Depakote, he was still exhibiting the same symptoms. But now he was like a little zombie; he was listless, he didn't make eye contact, he didn't do anything. I brought that up to her and she said it was nothing to worry about, just the medication making him a little groggy. He was having upwards of twenty clusters of seizures a day at this point.

At that point, I got fed up. Ben was not improving and the doctor did not seem to be following a protocol that made sense. I decided to find the best expert I could on infantile spasms…no matter what. I didn't care how far away we would have to travel.

As it turns out, I got lucky; we live in Royal Oak, Michigan, and Dr. Harry Chugani of Wayne State University Medical School and Children's Hospital of Michigan, (who happens to be one of the best doctors for infantile spasms), was literally just down the street from me. I learned about him through blogs that had been written by other parents of children with IS. He was referred to in multiple posts as "Dr. Rockstar". What a blessing when I found out he was right here in Detroit.

I emailed Dr. Chugani that day. He was overseas, but still responded to me within an hour and set me up with his colleague. So I had all of Ben's records sent over to his office and I took him in for an appointment. The doctor confirmed everything I read, including that Ben should not have been on Depakote.

He suggested that we try Vigabatrin first; if that didn't work, we would try ACTH. I was happy to hear that treatment path since my research found that these were the two drugs most often mentioned, so we started Ben out on Vigabatrin. We saw an improvement in his mood, he had better eye contact, more energy and he wasn't as lethargic, but he was still having seizures.

So we took Ben back and he was then started on ACTH; it was like magic.

I still don't know how to explain the mystery of steroids, but they were nothing short of a miracle for our son. Ben had his first ACTH injection on Halloween day in the hospital; he had one large cluster of seizures that night that went on for 40 minutes, which the hospital staff said was a paradoxical seizure cluster (caused by the medication). I continued to give him subsequent injections (which parents can be taught to do) on the second and third day and then the seizures basically stopped. He had a few more seizures on the fourth and fifth day. But on November 6th 2009 (on his sixth day of treatment with ACTH), Ben had his last seizure. He hasn't had another one since.

We were relieved and thrilled, but cautiously optimistic. The protocol for the medicine calls for a daily injection for six weeks. Once the seizures had stopped we quickly enrolled him in occupational (motor functions and reasoning abilities) and physical therapy (strength and physical function) right away.

I'm happy to say he's all caught up with his gross motor skills and his fine motor skills. He's now a happy, healthy boy that runs around and asks for bananas and says, "I love you" and can count to five and does those normal things that two year old children do. He still receives speech therapy, and is making great progress.

We got lucky and found the right help and the right medicine for Ben; unfortunately many children don't get diagnosed quickly and correctly and for those children the prognosis is poor.

That's why I created FACEIS – it is important to me because I don't want parents to have to go through what I went through. Not having answers, not having the condition treated as an emergency, when it indeed is an emergency. My son had seizures for three months straight! If we had gone to a provider who knew how to treat the condition, Ben (most likely) would have only had seizures for a few weeks, not three months.

Above all, I want to let people know that there are resources out there, that you can find answers and you can find medical professionals that can help and that you don't have to Face IS alone, hence the name of our organization: FACEIS. I hope this website and organization can help provide those answers to give you comfort and help facilitate the timely care and aggressive treatment of children with IS.