I tried to come up with a snazzy title, something clever or cute, SEO-worthy… But this is a long post about our experience with a rare entity; one that targets the tiniest of patients. I decided its name is the only acceptable title as it is not Voldemort. It should be named and not hidden in the shadows. Additionally, I will add resource links throughout and at the end, please read it if you have little ones (4-8 months old is the typical age of onset). Share the resources with your friends, pediatricians, and ER workers. There are things the baby books do not prepare us for, anyone who has been a parent for a minute is pretty quick to learn that. Doctors, no matter how experienced or smart, have not seen everything that can possibly happen to a person, that is just not possible. The term is PRACTICING MEDICINE. This post was not an easy one to write. But the process has been therapeutic. I feel like the experience is something to share. And, it is information I hope will add to the conversation and raise awareness. Our youngest of the Midnight Crew, Count J, and the namesake for this blog experienced a rare seizure disorder as a baby called Infantile Spasms (IS). The name is misleading. It is an emergency. IS are generalized seizures. This means that the whole brain is involved. Movements can be dramatic but more often than not are subtle, making them easy to dismiss. For perspective – the seizures associated with IS are of the same type of seizure we would see in tonic-clonic or as some of us older people might remember, grand mal seizures. They occur in clusters and the longer they happen the greater the chance for damage to occur in the baby’s developing brain. In our case they could have been missed. The pediatrician’s office dismissed the concern and the ER on the first visit misdiagnosed. We are so thankful that our baby got diagnosed quickly despite human error. Knowing he was blessed is not missed on us.
He got his six-month vaccines. They get a bunch at the six-month visit. I remember not thinking anything of it at the time. Vaccines save lives, his brothers got them. No big deal. The pediatrician is like family to us. She has seen our boys since the oldest was eight months old. We joked about sleep deprivation at this appointment. I didn’t know at the time that the baby I brought into this visit was not the baby I was bringing home. It was a Friday. He slept the whole way home and most of the afternoon. He didn’t want to eat much and seemed uncomfortable. This was not surprising. It was not my first rodeo ya know. I expected him to be a little sluggish and not eat well over the weekend. A small fever would not have caught me off guard either. The difference is he did not seem to get past it. The following two weeks would go by with more erratic sleep at night, barely eating, and a lot of daytime sleeping. I called and spoke to the nurses at his ped’s office so many times. They would reassure me that he was fine, eating waxes and wanes with growth spurts and I needed to do some sleep training. I would think yea, but I have two other kids. I am not new to this. Something isn’t right.
Fast forward to two weeks to the day from when he got his shots. It was a Friday. He had been up till 3:00 am the night before. He got up at 1:00 pm. I was doing my oldest son and niece’s homeschool lessons with our two-year-old “doing his work too” at the coffee table. I put the baby in his little floor seat to be part of the group. He liked that. He was content for quite a while. I had time to finish their lesson before he got fussy. I changed his diaper. He cried. I offered him a bottle. He cried. I remember thinking he needed something. He was uncomfortable. I tried playing with him, singing to him – which made the other kids cry…haha. I walked him and rocked him. He became inconsolable.
He screamed. Not a normal baby scream. His little body folded in half. His head jolted forward – hard, and his legs came up. His arms flew out straight and over his head. It was 4:45 pm. I called the doctor. I told the front desk that I understood that it was almost closing time on a Friday, but something was wrong with my baby. I told him I needed to speak to the doctor or a nurse today. He said, “I hope your day gets better for you.” Then he hung up. I called my husband. He said it was probably a tummy ache. I called my mother and sister. They were at appointments and did not answer their phones. They would tell me later that it was probably colic or gas. All the while he continued to repeat those movements. He would grunt and scream between them. Eventually, he went to sleep.
He would do this every time he was ready to sleep through Monday. Monday evening, I met my husband at the door, holding our baby. I didn’t let him put his keys down. We went to the ER. The local urgent care/ER suggested that he might have intussusception, but they could not do the imaging. They sent us to the downtown hospital. We sat for hours before a nurse called us back. He started screaming, grunting, and folding in half as we walked down the pink and eggshell-blue halls to an exam room. I said, “Miss, this is it, look please, this is what I have been trying to describe.” She never looked up from her computer. They did the imaging. The diagnosis wasn’t intussusception. He did it yet again in front of the attending nurse practitioner. She blew it off. My husband recorded him this time. She gave him Tylenol. Once he was calm, we were discharged home.
The next day the pediatrician’s nurse called to follow up on the ER visit. The front desk did not leave a message from my call on Friday. I told her everything. She said, “We’ve seen your kids for years. I can tell something is bothering you, what is it?” I told her that something was wrong. It didn’t feel right. I told her his dad recorded him. She had me send it to her. The doctor viewed it. She said it looked like a rare type of seizure that can happen in babies in his age group. I’d like to point out that this doctor practiced medicine for over 10 years and she only saw this rare seizure disorder during her residency. The nurse was in the process of telling me how to get an appointment with neurology when my mother brought him to me – seizing in clusters, AGAIN. The nurse said “forget the referral. Take him back to the ER. Tell them his pediatrician says he is having seizures.”
This round went differently than before. We were set up on the neuro floor STAT. They barely had him hooked up to the EEG before they diagnosed him. He would be looked over with a wood lamp, receive an MRI, and have a complete genetic blood panel run. All those results were normal. There was no known cause. That was good news. Had there been a structural abnormality on the MRI, if the wood lamp found any distinctive marks on his skin, or if the blood work came back with a genetic reason for this type of seizure, the treatment course could have been different, and the prognosis could have been worse. I should say I was not strong during this time. I cried the entire week we were there, so much so that the medical staff was concerned about me. I am ashamed that I didn’t hold myself together better, but I have never in my life felt so scared. I think hospitals should block cell phone internet capability. I was Doctor Google checking like crazy and it only fed my anxiety.
The first night was bad. Oh, how he cried and had so many seizures. Looking back on that night everything happened so fast. One minute I was at home with the kids and my mom. The next we called my sister home from work to stay with the children so my mom could drive the baby and me to the hospital. I called my husband to let him know. He would arrive at the hospital not too long after us being called back to the exam room. Within minutes of him getting there the attending doctor had transferred the baby’s care to the neurologist on call. My mother went home to help my sister take care of the kids. Before we knew it, we were on the fourth floor in a room, surrounded by strangers. There were doctors, technicians, and nurses. In the center of the room was a hospital crib. The bars could be pulled down on any or all sides depending on the need. It was white. Under normal circumstances one might think it cute with the cartoon character sheets and all. I remember thinking it looked like a cage. My baby was in the middle of it. He looked like an ant lying down in the forest. He didn’t have a lot of hair at six months old, but he had enough. As the techs glued tiny electrodes all over his head and neck the nurse took me aside and told me how I could get all the glue off him, as a normal shampoo wash wouldn’t work.
One could feel the sterility in the room. Despite the wall’s pastel pallet and images of Winne the Pooh and regardless of the baby bed, the environment was all hospital. An IV bag dripped in the corner. The baby screamed for what seemed like forever. He did not like the oppression of being alone flat in that bed with all those tiny foreign things stuck all over him. Monitors beeped and alarms we did not understand went off all around us. Vitals were being monitored. The room of professionals talked amongst themselves. My husband and I were out of the way on either side of the bed staring and listening while frozen in place. There are two types of clean, that of a freshly cleaned home and that of a hospital. The bleach solution filled the air, penetrating and almost burning the nostrils. The glue that was attached to the electrodes smelled like a cross between the latex gloves the staff wear and rubbing alcohol. I remember looking at my baby and wishing we were anywhere else. But that smell simply would not let my imagination pretend any such fantasy. We were trapped in a bad scene from ER or House. I halfway expected to see George Clooney or Hugh Laurie walk in with a camera crew…speaking of cameras. There was one set up and running in the corner, aimed at the baby cage.
Video-EEG
Infantile spasms is diagnosed with a test called video-electroencephalography (video-EEG). This involves recording video of a child and monitoring their brainwaves. Brainwaves are monitored using about 20 painless electrodes glued to the scalp. A video-EEG test usually lasts between several hours and 24 hours. The first goal of a video-EEG is to see if suspected spasms match with typical electric changes. The second goal is to look for chaotic brainwave abnormalities called hypsarrhythmia. Hypsarrhythmia is sometimes a sign of infantile spasms.
https://www.childneurologyfoundation.org/disorder/infantile-spasms/
The way diagnosing Infantile Spasms works is by hooking the child up to an EEG for 24 hours while techs, doctors, and nurses monitor the child on video. Even when the three of us were in there by ourselves, we were never alone in the room. They run the EEG while the child is both awake and asleep. They look for a specific brainwave pattern called hypsarrhythmia. This pattern is distinctive for Infantile Spasms. To a novice parent, it looks like a chaotic mess on paper. There are spikes and drops that look like massive scribbles. Normally the patient would be hooked up and everyone would leave except the parents to monitor. The nurse told us in the hustle of it all that the brainwave pattern was already spotted, and he had Infantile Spasms. With this confirmed information, the pulse in my neck could visibly giveaway to the acceleration of my panic level. I saw my baby almost through a portrait lens, it was just him with everything else blurred out. He screamed the most between seizures. The whole episode could last up to a half hour before they would stop, and he would sleep.
A unique aspect of the seizures in Infantile Spasms is that they happen in clusters. Eventually, we were left there with our baby waking up every so often only to go through the clusters before the inevitability of sleep. To say this was a long night would be an understatement. After a while, the sweetest nurse came in and offered to give us a break and walk with him. We apologized for being so disruptive. What she said to us stuck – “Oh, don’t be! We love this! Most often before babies get diagnosed, they have suffered so many seizures that they don’t have the ability to cry anymore by the time we see them.” This moment out of all of them is the most vivid of my memories of the hospital. Moms, what do we know about infant crying? That is how babies communicate, right? We learn as parents in that first year what each type of cry communicates – hunger, sleep, diaper, cuddles. By the time this nursing staff on the fourth floor sees babies who share my son’s diagnosis, the baby has lost their ability to react to pain and to communicate their needs. If the outside of my form could have turned inside out my heart would have been a puddle of blood on the cold, sterile floor.
My husband remembers that moment too, but he doesn’t talk about it much. The memory that stands out to him that he brings up when asked is the cafeteria. We went there after the baby was taken back for his MRI. At the children’s hospital cafeteria, one can purchase a whole birthday cake. It is astoundingly sad to think of parents needing to buy one in a pinch for their child to have some semblance of celebrating their birthday while in the hospital. This memory is sad, and he will bring it up predictably anytime the subject arises. I personally feel that this memory is simpler to recall for him as it is the safest of them. If he must think too long about the rest of it, it is too much to feel all at once. I can’t separate any of it. Maybe it is the writer part of my brain. When I look back on this event in our lives, I realize even then I needed words. I needed to get out of the suspense of the plot. I was desperate to know what the resolution would be…how the story would end. The doctor, bless his heart couldn’t tell me but every single time I asked my question – Is my baby going to be okay, in the 250 ways I reworded the question – he would take the time to answer me, even though his answers were always a variation of “we don’t know.”
We were taught how to give him ACTH injections in his legs. ACTH is a hormone that our body makes on its own naturally. The ACTH that he was prescribed was a synthetic version of the strong steroid and it is the frontline treatment for Infantile Spasms. We did this daily for 8 weeks. During treatment, we had to take him in for weekly blood pressure readings as high blood pressure was a possible side effect of the treatment. His pediatrician’s office did not have a cuff small enough for him, so the neurology clinic allowed us to stop in for weekly readings there. The other possible complication of high-dose steroids is they can compromise the immune system during and just after treatment. So, we would have to be very careful to try not to be exposed to illness during this time. It felt like one more entity we could not see with our eyes but had to protect him from regardless.
The first follow-up EEG was two weeks into treatment. We were told that the hypsarrhythmia would need to be gone for the treatment to be considered positive and continued, and it was. We would have another one after treatment that showed a slightly slowing brainwave pattern in the background. This meant that he had had seizures at some point in his short life. The last EEG was normal with no slowing or any signs of past or current seizure activity. The note read that it was age appropriate. Rejoicing and praising the good Lord for healing does not even begin to describe the amount of gratitude that we feel.
This kid is so smart. At four years old he enjoys math most of all in our homeschool pre-k program. He has several addition facts memorized, asks questions to learn subtraction concepts, and recently started figuring out multiplication tables. “Mommy, how many do seven threes make?” He loves to know how things are made and what they are made from. He has the sweetest smile and the best laugh. The thought that this rare disorder could have robbed him of all these things devastates me as a mom.
I must keep myself in check and that is not always easy. At first, I remember watching every single movement he made. I was forever recording him on my phone and calling the neurology clinic. One time we got the head of the department as he was on call. He took the time to view the video and listen to me. He assured me that my baby was okay but he backed that up by ordering an extra EEG just so I could breathe. He could have belittled me, he didn’t. The kindness of him in this moment meant the world to me.
Now you would never know that he endured all this. He runs, jumps climbs, makes me nervous as he keeps up with his brothers step for step – sometimes he gives them a run for the money. It is such a balancing act. I have to let him be a kid and have fun. But I am his mom, and I am gonna worry. I am going to lose sleep. Worrying goes with the mommy territory. We were just beginning to feel braver when…Cue the global pandemic!
The first call was to neurology…I wanted to call NASA and see if we could get on some sort of list to go colonize the moon or Mars maybe…
We are working on being brave and getting back out in the world, given Count J’s history our choices always center on safety. Dear reader, if you have read this far, thank you! If you take one thing away from this, it should be to always trust your instincts. You are the expert on your own body and you are the expert on your children. Never be afraid to get pushy even with medical professionals. And also remember if your feelings crumble on a hospital floor or anywhere for that matter you can always put yourself back together. And there is never any shame in tears. Learning to give myself grace has been a process. I deserve the grace and remember even in your weakest moments, so do you.
Resources:
American Academy of Pediatrics
Infantile Spasms Awareness Week (ISAW) – Usually held the first week of December following Epilepsy Awareness Month.
The Midnight Toddler 