Our Infantile Spasms Journey
Gabby was born on December 27, 2012. She was 19 3/4" long, she weighed 8 lbs., 2 oz, and by all accounts she was a perfectly healthy and “normal” child.
When we brought Gabby home from the hospital, we had every reason to be optimistic about her health. She only had one minor cold during her first five months, and she measured between the 50th and 80th percentile in weight and height at each doctor visit. I specifically remember her five month check-up. I filled out the checklist to see how she was progressing, and she was ahead of every developmental milestone on the list. I was a proud dad. My wife and I took nothing for granted, but we had no reason at that point to worry about anything out of the ordinary.
About a week later, on June 2, “out of the ordinary” showed up with a vengeance. Gabby woke up around 7:15 that morning, and I got up to feed her. While she was happily gobbling up her bottle, I noticed something strange. Every few seconds, without skipping a beat with her bottle, Gabby would stretch her arms out to her side. It looked like someone getting a chill up their spine, or the “startle” reflex that babies sometimes have while they’re sleeping. She did it six or seven times that morning, but it didn’t look like anything to worry about. Still, I remembered it.
Later that day, my wife Missi was feeding Gabby her bottle and she noticed the same thing. When she mentioned it to me, I told her that I’d seen it that morning. Neither of us were too concerned. It appeared to just be a little twitch, so we dismissed it quickly.
The next morning, I took Gabby to the doctor’s office because she’d had a slight sniffle over the weekend. It wasn’t a big deal, but like I said, she had barely been sick up to that point. While we were in the waiting room, she did the thing with her arms again. It only lasted 30 seconds or so, and still didn’t look like anything serious. The doctor checked her for a cold, which had either cleared up or never existed. He asked if I had any other concerns, so I told him about the arm movements. I didn’t even know what to call them. Were they reflexes, “tics”, stretches? They seemed so innocent and harmless, and I only mentioned them because I was already there.
When I described the movements to her pediatrician, he asked about their frequency, their duration, and their effect on Gabby. I described them the best I could, but he couldn’t properly diagnose them without seeing them. I put them in the back of my mind and we went home.
During another feeding that afternoon, Gabby started having the movements again. This time, my phone was close enough that I could reach it and record the movement. This is what I recorded:
Once again, the spasms didn’t last very long, and, once again, they didn’t seem to bother Gabby at all. They seemed so benign, but still…this was happening too often to be “nothing”. I didn’t think they were anything serious, but I still wanted to show the doctor what was happening. I called the pediatrician’s office and told them that I had a video, and they told me to come back in. I got back to the doctor’s office and two of Gabby’s pediatricians watched the video. They agreed that it could be just a minor reflex, but they also mentioned that it could be something called infantile spasms (IS). They went on to tell me how rare IS was, but recommended having an EEG to rule it out. They scheduled the EEG at East Tennessee Children’s Hospital here in Knoxville, but the soonest they could get Gabby in was ten days away.
Missi got home from work just a few minutes after Gabby and I returned home from the doctor’s office. I told her about our events that day and about the scheduled EEG. Of the two of us, Missi is most definitely the “worrier”. Still, I decided I would do what I always tell her not to do: I decided to Google “infantile spasms”. I had no idea just how much our lives were about to change.
The first link that appeared was for a website created by a family with a child with infantile spasms. I started reading their story, and almost immediately backed out of the site to go find something more optimistic. I clicked the next link, which was for the Child Neurology Foundation. This link gave me some good information without a personal testimonial, but it was still not the “encouraging” information I’d hoped to find. I decided to keep trying to find something that was going to tell me, “It’s OK. Gabby will be fine. These little arm movements are no more threatening than they appear. Relax.” But the next link led me to another family’s story of their child’s struggle with IS. There was one thing that I couldn’t help but notice that every site had in common. Everything I learned about infantile spasms in those few minutes told me this: If you believe your child has IS, have an EEG done immediately and begin treatment as soon as possible. As I sat there remembering that Gabby had an appointment for an EEG in ten days, suddenly ten days seemed like ten years.
I rushed back to our living room. Missi was on the couch with Gabby in her lap, and Gabby was smiling and looking like she didn’t have a care in the world. If I based our next move on her appearance, we would have sat there and had a normal Monday night. She looked so…”normal”. She didn’t look sick. She didn’t look scared. She didn’t look like she had anything wrong with her at all. I almost stopped and sat down so I would avoid scaring Missi, but at that moment I didn’t care about scaring her. I grabbed my shoes and my keys and told Missi to get Gabby’s bag. I did my best not to sound frantic, but I doubt I pulled it off. Missi was asking me what I’d read, but I was just trying to get in the car and on the road as quickly as possible. I told her that we had to go to the emergency room, and that Gabby needed an EEG that night. Before that afternoon’s visit to the pediatrician, I can honestly say that I didn’t know what an EEG even was. I’d heard of it, but probably on an episode of “E.R.” or “House”. But at that moment, I knew that it was critical that we get our little girl to Children’s Hospital.
We rushed downtown to the hospital, and I dropped Missi and Gabby off at the E.R. door. I parked and ran inside. I was terrified. By the time I’d told Missi about IS, I know she was scared to death as well. It was still so unbelievable that anything could be wrong. Gabby wasn’t crying, she wasn’t whining, she wasn’t doing anything differently from any other (healthy) 5-month-old baby. Even as we were frantically explaining to the hospital staff why we were there, they all seemed to be looking at us like we were crazy. They were kind, and they treated us professionally, but they all kept looking at Gabby then looking back at us as if they were thinking, “There’s clearly nothing wrong with your child.” But, if any of them were thinking anything that, they certainly didn’t say so. They checked us in quickly, then got us back to see a doctor within a few minutes.
We told the E.R. doc about our past two days, then we showed her the video. She said that she was familiar with infantile spasms, and ordered an EEG that night. This is the point when Missi and I started learning that many medical professionals are just not that knowledgeable about IS. While we were in the exam room waiting for the EEG, Gabby started having the spasms again. There was a nurse in the room at the time, and she didn’t notice them. When we pointed out the actual spasms as they were happening, she still didn’t recognize that there was anything wrong. Over the course of the next five days, we would learn that one of the main reasons that IS gets missed or misdiagnosed is because it is such a rare condition that many pediatricians, nurses, technicians and other hospital staff are just not familiar with it.
After waiting for a couple of hours, they came and took Gabby back for the EEG. If the situation didn’t seem real enough for us yet, it was certainly about to. As I mentioned, I didn’t really know what an EEG was before that day. It is an electroencephalogram, and it detects electrical activity in a person’s brain. To get the data, a tech places several (probably 20 or so) small discs all over the patient’s head. For an adult, this would be a nuisance. For a 5-month-old little girl, it was one of the saddest things I’d ever seen. The hospital staff at ETCH were great, and we became all too aware that they see and treat small children every single day. For Gabby’s part, she was a trooper. Even though she had no clue what was going on, she was too young to really be scared. Still, for us, it was such a helpless feeling to see our little girl, who had seemed perfectly fine less than 48 hours earlier (and still seemed fine then), with all these wires running from her head to a machine.
The techs hooked everything up and conducted the EEG. It took about 45 minutes for them to get the information they needed, then we went back to the exam room. The doctor also ordered an MRI, which, in comparison to the EEG, seemed like a walk in the park. After all of the tests were conducted, we were checked in to a room. The E.R. doctor agreed that it could be infantile spasms, but we would know for sure in the morning when the neurologist reviewed the EEG results. We got as comfortable as we could in a hospital room, and spent the night praying that Gabby would be OK.
Since we knew we could be at the hospital for a few days, I went home and got some clothes and personal items for all three of us. When I got back, I started doing research on infantile spasms. I found a couple of helpful websites (the one from the Child Neurology Foundation as well as one on epilepsy.com), and tried to learn as much as I could in one night. I believe that the Child Neurology Foundation describes it best. Here’s what they write about IS:
Infantile spasms (IS) is a rare seizure disorder that occurs in young children, usually under one year of age. The average age of onset is around four months, but some children may experience spasms as early as one month. A few children may begin as late as two years. Only about 2,500 children in the US are diagnosed each year with IS. It often has a very subtle appearance so it is difficult for parents to recognize that it is a serious problem. When most people think of a seizure disorder, they may think of someone falling to the ground and having all-over body convulsions. It is very obvious when that happens that there is something wrong. Many people seeing a seizure for the first time are quite scared; while others may think that the person is going to die.
A young child having infantile spasms, on the other hand, may just have little head drops that do not appear to be anything serious. However, it is a much more serious seizure disorder than the generalized convulsion. Not only is it difficult for the parent to realize that this is a seizure disorder, it is also challenging for pediatricians. Infantile spasms are so uncommon that most pediatricians will see only one or two IS cases during all the years of practice. Also IS often looks similar to common disorders such as a normal startle reflex, colic, or reflux. It is very important to recognize that a child has IS as soon as it begins because:
- there are medications that may control the spasms
- the longer the spasms last before they are treated and controlled, the poorer the child may do developmentally
Unfortunately, children who develop IS are at great risk for developmental disability and autism, but some children will do well if they are treated early. Because the spells may be subtle, the diagnosis may be delayed for weeks or months.
While we were trying to remain optimistic, signs seemed to be telling us that Gabby was going to be diagnosed with this rare, terrifying condition. Although Gabby fell asleep not long after we got to the room, she’d had a couple of more clusters of the spasms while we were in the E.R. It was so strange how much more frequent they began to come, and their frequency only increased over the next couple of days.
Missi and I both did our best to get some rest while we had the chance. We knew that the next day would be a long one. We woke up the next morning and did our best to prepare ourselves for whatever news we received. The hospital staff was so helpful in making us feel comfortable, as odd as that may sound. The staff told us that we would be seeing the neurologist, Dr. Karsten Gammeltoft, sometime that morning. When he arrived, we got the news we had spent the night dreading.
Dr. Gammeltoft was polite, but he got straight to the point. He told us that he had reviewed Gabby’s EEG, and that it had shown hypsarrythmia. I had already learned what this was, and he went on to describe it as “chaotic brain wave patterns”. No doubt at that point, Gabby had infantile spasms. No matter how much we’d tried to steel ourselves for this diagnosis, it still hit us hard. Dr. Gammeltoft began explaining treatment options, and he was clear that he wanted to attack the IS as aggressively as possible. This meant that Gabby would received injections of a drug called ACTH twice a day for the next thirty days. With our whole world feeling so shaken at that moment, it wasn’t until a few hours later that we realized that we would be tasked with giving Gabby these injections after the first few days.
ACTH is a drug that treats several conditions, and is known to be one of the most effective for treating infantile spasms. Still, nothing cures IS. Dr. Gammeltoft told us that he was optimistic that one round of ACTH could eliminate Gabby’s spasms, but that the success rate was somewhere around 20%. Plus, even if she responded well to the ACTH, there was a strong possibility that she would eventually relapse and need another round of the drug (or a different treatment altogether). The odds of Gabby responding to the ACTH, ceasing to have spasms, and continuing to develop normally were around 10%.
We continued to try to be strong and positive, but these numbers were crushing. We still could not believe that something that looked so harmless could end up preventing Gabby from learning and developing properly. Plus, Gabby continued to be herself, never having any idea that anything was even wrong. We would soon come to realize what a blessing this was, but at the time it just made the situation seem surreal. If you are a parent who has a child who has ever faced something like this, you know how we felt. If you don’t, and I say this with all due respect, you just don’t know the fear, confusion, or numbness that comes with this kind of news. Just two days earlier, we fell firmly into the latter category. While we had done our best not to take our daughter’s health for granted, we had certainly thought that, barring a random accident, she was destined for a perfectly normal childhood.
We took Dr. Gammeltoft’s advice, and we agreed to have Gabby begin her regimen of ACTH that afternoon. We were so fortunate to even have that opportunity. Since ACTH is so rarely needed, most hospitals don’t stock it. East Tennessee Children’s Hospital happened to have one vial. Since it is so rare, it is also very expensive. When Dr. Gammeltoft explained it to us, he joked that the thirty day supply would cost approximately “as much as a small house”. He actually wasn’t joking. The price for four small vials of the gel was $140,000. When you’re told that a certain drug offers the best, and possibly only, chance to help your child, it really doesn’t matter if it’s $140, $140,000, or $140,000,000. We were going to get the treatment if it meant mortgaging our house, selling everything we had, and eating Ramen noodles for the rest of our lives.
The team at Children’s Hospital helped us contact the company that produces ACTH, and they were able to overnight a supply to us. This was crucial, as Gabby needed to begin her treatment that day. She got her first two doses there at the hospitals, where the nurses showed us how to prep Gabby and inject the medicine. I cannot begin to explain how scary it is to know that you have to give your own five month old child injections twice a day. We were just starting to feel like we were decent at changing diapers. Now we were faced with learning to sterilize Gabby’s leg, numb the injection area with lidocaine ointment (I can’t even imagine how much harder it would have been if she’d felt the needle), draw the gel from the vial into the syringe (this was especially nerve-wracking, as the gel was very thick, and we had to learn how to get it just right without even a hint of air bubbles), then make the actual injections into our baby girl. Nothing had prepared us for this, and this was going to become our “New Normal” for the next month.
To the ETCH staff’s credit, they did a wonderful job not only training us to perform the injections but also making us feel comfortable doing them. Gabby stayed in the hospital for three more days of observation, but by the time we went home we actually felt like we knew what we were doing. We also knew that we didn’t have a choice, so that helped. So, with our supplies loaded up, we went home.
Gabby responded well to the ACTH. Within two days of receiving the injections at the hospital, the frequency of her spasms slowed down. After five days of injections, she was not having any spasms at all. Dr. Gammeltoft said she responded quicker than any child he had seen. We felt positively blessed, but we took nothing for granted. We knew that Gabby had a long way to go before any of us would breathe easily. Dr. Gammeltoft kept our expectations realistic. While he was always optimistic, he always kept us prepared for setbacks. He reminded us that delays in development were normal, even if Gabby never regressed and even if the spasms disappeared completely. These are the facts of IS. No one can ever predict how a child will respond to the treatments, and there is no way to give a solid prognosis to a child with these spasms.
For our part, we began this new phase of our life cautiously optimistic but grounded. We took Gabby home, tried to get used to the injections, and we prayed. Those thirty days seemed to last forever. While Gabby’s spasms didn’t come back during that month, she did begin having another type of strange behavior. Sometimes, while Gabby was lying down (usually right before she would drift off to sleep), her eyes would start to roll back in her head. We went back for a follow-up EEG on June 19, and we were so relieved to see that Gabby showed no signs of hypsarrythmia. Still, these little eye rolls were troubling. We didn’t know if this was going to be another rare condition or something benign. Dr. Gammeltoft prescribed Topamax, a drug used primarily for epilepsy and migraines. Within a few days, the eye rolls had stopped, but he wanted to keep her on the Topamax until further notice just to be safe.
Over the next few months, we did our best to get back to “normal” lives. Still, as any parent who has a child with epilepsy knows, nothing ever feels normal again. We knew the chances were good that Gabby’s spasms could come back. We also knew that she could develop other types of seizures. We did our best to relax as much as possible, but I can honestly say that I can’t imagine any parents watching their child as closely as we watched her for the next year. We feared that every single twitch, hiccup, and jerk was some kind of seizure. We made several more trips to Dr. Gammeltoft’s office because we were worried about things that turned out to be nothing. Thankfully, he and his staff never made us feel like we were crazy for bringing Gabby in for false alarms. They were so professional and accommodating, and they always helped put our minds at ease.
There were so many lifestyle changes — some small, some big — that we made over those next few months. We never had babysitters, because we could never feel comfortable not having our own eyes on Gabby. She was so fortunate to respond well to the ACTH, but one of the main side effects is significant weight gain. She became unrecognizable after just a couple of weeks of treatment, so we had to modify her diet. We also learned that Gabby qualified for an early intervention teacher to visit her weekly to check to see if she suffered from any developmental delays. This was something we immediately took advantage of, as we were so worried that she would start to regress like so many children with IS do.
While we were encouraged and grateful that Gabby seemed to be the exception to most of the rules of IS, there was not a day that went by that we did not pray for her continuing health. Each night we thanked God for another day with no spasms, and each night we asked for another spasm-free day tomorrow (something that we still do each day, over seven years later). We never got comfortable or complacent, no matter how well Gabby was doing. We were certainly thankful, but we had read too many stories of children who responded well to the ACTH only to start having spasms again months later. IS had already blindsided us once, we were not going to allow ourselves to take Gabby’s health for granted again.
A big takeaway for us through this journey has been how much it has affected our own health. Gabby responded so well to her treatment, yet we were always waiting for something else to pop up. We made several trips back to Dr. Gammeltoft’s office, always prepared for the worst. Each of these visits turned out to be false alarms, but the stress we had during each was very real. One of these visits consisted of a 24-hour EEG, which meant that Gabby had to come home with her head wrapped and carry a monitor in a bag for 24 hours. This happened a couple of months before her third birthday, so she was much more aware of this than the EEGs she had as an infant. We tried to keep things light for her (I also got my head wrapped, as well as her doll’s head, so she didn’t feel singled out), but each doctor’s visit added a little more stress and anxiety to our lives. We are so grateful for Gabby’s health, but we have had to address our own health issues that have arisen as a result of years of fighting this battle.
One of the ways we tried to stay grounded and humble was by trying to get in touch with other families dealing with the same thing. Missi joined an Infantile Spasms Support Group on Facebook. This allowed her to talk to parents from both sides of our IS journey: Parents with children who had already come through their battle with IS (some positively, some negatively) and parents who were just beginning their struggle (those first few days of Gabby’s spasms were still so incredibly fresh in our minds). We learned right away that we would not have found the strength to deal with this if we hadn’t read testimonials giving us hope. We wanted to be able to give back somehow, and this was an outlet where we could do that. Missi would communicate with other parents, and it helped us as much as we hope it helped them. We also found that we could learn from families who hadn’t had the same positive results that we’d had. A common theme for families whose children had not responded well to IS treatments is that they had been misdiagnosed or that they had learned of IS weeks or months after their children had gotten the spasms.
It has been over seven years since our fight with IS began. Gabby came through her initial treatment like a champ, and has not had any recurring spasms. Still, we did not draw an easy breath until she was five or six. While we know that Gabby was blessed with an incredibly positive outcome, we also know that most families dealing with IS are not as fortunate. During the past seven years, we have made it our goal to get the word out about infantile spasms. Gabby was featured in the East Tennessee Children’s Hospital quarterly magazine, we created a blog detailing her story, and we have reached out to several other epilepsy advocates hoping to find ways to help create awareness.
We have been encouraged by the stories we’ve read from other families who have had positive outcomes. We have also corresponded with families like Kelly and Miguel Cervantes (from the musical “Hamilton”), whose daughter Adelaide tragically passed away last October. If you are looking for more information on Infantile Spasms or epilepsy, I highly recommend following Kelly on social media and checking out her blog “Inchstones” and the CURE (Citizens United for Research in Epilepsy) podcast “Seizing Life”.
Every family we have spoken with or read about has touched our hearts, and it is our goal that Gabby’s story can provide knowledge and encouragement for others. Dr. Gammeltoft explained that Gabby could develop new types of epilepsy even after growing out of IS, so we continue to be diligent in educating ourselves. We know that catching Gabby’s spasms early was critical to her prognosis, so we are doing our best to help other families recognize the signs so they can have a positive outcome.
For more information on Infantile Spasms and epilepsy, check out each of the resources listed here. If you know parents of children between one month to one year old, please share this information with them. If you believe your child may be suffering from IS, go to the nearest emergency room and have an EEG conducted as soon as possible. Finally, please visit and share Gabby’s story at www.infantilespasmsonline.com.
