The journey began on April 21st, 2018, an unseasonably warm spring day in Western New York. My husband and I started a campfire out in our front yard. We love camping and I was excited to take my four month old out to his first campfire. As a new mom I couldn’t wait to get out of the house I had been stuck in all winter and to share the outdoors with our little guy.
We came inside and I put him on the floor to play. As we were relaxing I saw him jerk his body. A few seconds later it happened again. “Did you see that?” I asked my husband. We watched him with confusion for the next minute or so as he did it a few more times and then settled in to his squishy self. I remember thinking it was odd but not worrying about it. Hiccups maybe, I thought.
The next morning I went into the nursery to pick him up from the crib and in my arms he jerked like the night before. It happened over and over and I ran into our bedroom to show my husband. “Is this a seizure or something? What is happening?” I started to ramble. I jumped on to my phone and jumped down the internet wormhole. That morning it happened again and we got it on video. I called our pediatrician on their emergency line and explained what was going on and she recommended that we come in when they opened.
We rushed our tiny little baby into the pediatricians office. After checking him over we showed her our video. She watched closely and after admitting that she wasn’t quite sure what was going on, told us we should head to the ER. That they would be the best people to help.
In the ER we were seen by a parade of people. It was the beginning of a list of things I didn’t think I was ever going to have to watch a baby do. I listened as he screamed during his CAT scan. I watched as they held him down for an IV. I played with him and forced a smile as he put on his way too big hospital gown. We met with the neurologist and resident and showed the videos. I explained that I had noticed that they were happening when he was tired or just waking. I had started instinctively to time his seizures and jerks and to take notes on what was going on when they happened.
They admitted us into the hospital and hooked us up to an EEG machine/video monitor. We had no idea what was going on, how long we would be there, and what we should be doing or if there was really anything we could do. I remember asking what was the best case scenario and what was the worst case scenario. One of the doctors cautioned us to prepare for it all. While in the hospital the doctors ordered an MRI and bloodwork and after a few days came back with a diagnosis of Myoclonic Seizures. The MRI came back normal as did the CAT scan. The bloodwork was fine. The EEG was abnormal but not showing anything conclusive. We received a prescription for a low level anti-epileptic and we were sent home with a follow up appointment. We were told we should see some improvement in the days to follow.
It was somewhere along the way that I remember coming across the words Infantile Spasm. I watched videos and kept thinking about how much those body jerks looked like what Calvin was doing. After we left the hospital took meticulous notes and made sure to video everything I could. We deep cleaned the house thinking that maybe it was something environmental. We bought a video monitor for the nursery so we could make sure he was safe. For the next week I watched as his seizures continued wondering what would come of my son.
After a week, I called the neurology department and talked to the nurse. Things weren’t improving and I wanted to know what was the next step. Something didn’t settle well with me. We headed back to the doctor’s office.Our doctor was dismissive when we first arrived. He seemed frustrated that I wanted to keep looking to see if there was something else. He was rude and aggressive but agreed to do another EEG.
After around 20 minutes the resident we had seen in the hospital came into the room and asked some more questions about his movements. He watched videos, went through my notes, and told us to wait in the room. At that point another doctor, the lead neurologist and director of the Epilepsy Monitoring Unit came in to meet with us. He explained that his EEG had become very abnormal and that they were going to get us up to Long Term Monitoring for some more observation. It was too early to say exactly what was going on but they needed to know more.
That next week we were admitted into the Long Term Monitoring unit and met what would become our team of doctors. It was a surreal experience to have him hooked up for days, being watched and stuck in the hospital room. I cried with those nurses and doctors out of desperation and fear. Our family provided meals and support and scrambled to help us in any way possible. We watched the world keep going outside of our window while we were stuck in limbo. There is really no describing the way you feel when you are in medical limbo. The internet told us our son might never walk or talk. “A devastating seizure disorder of infancy.” I will never forget reading that sentence. Our doctors were hopeful but no one had the crystal ball and that was incredibly frustrating. I have never felt so powerless.
After a day or so we got our final diagnosis, Infantile Spasms. We were told we would try ACTH first and learned how to inject the medication using a needle and syringe. We were warned about the side effects, weight gain, hunger, irritability, high blood pressure, weakened immune system just to name a few. For the next two days I spent hours on the phone getting the medication delivered to our house. It was a nightmare of red tape, wording of dosing, and talk about prior approval. I learned that the medication was going to cost over a hundred thousand dollars and that we were going to be on it for eight weeks. Thankfully we had good insurance. On May 4th our son received his first injection. We had to wait at the hospital for a few extra days while we negotiated to have the medication delivered. We liked to joke it was the worst vacation ever. A few of the nurses let us sneak out to the deck area to finally feel the warmth and the sunlight that finally decided to arrive for the spring. I am forever thankful for that couple of minutes in the sun.
Finally we received our discharge papers and we headed home. I was not prepared for what the ACTH would do to our poor baby. He became an uncomfortable, bloated, starving little boy. He slept for thirty minutes and then was up for the next two hours. My husband and I started rotating shifts at night so someone could rest. Our family and friends brought meals and let us take catnaps. We walked him and put him in the tub constantly trying to soothe him. I had been nursing and could no longer keep up with his feeds. He wanted to eat all of the time and my body became too sore and too stressed to allow that to happen. He stopped being the little boy we had fallen in love with. A visiting nurse came over frequently to monitor his blood pressure, which skyrocketed, and resulted in another specialist and more doctors appointments.
The good news was the medication was working. His spasms had stopped. As we started to wean his smile and giggle returned.We had missed that smile incredibly and it was a ray of hope. He rolled again after losing that skill at the onset of seizures. Things were looking up. We celebrated his last injection and started dreaming again for a bright future. I found a wonderful online community through social media of parents from across the world who truly understood what we were going through, fellow IS warriors and their families. Those strangers felt like comrades.
One week after his last dose my husband headed to a bachelor weekend for his best friend. Our son was in the bassinet and I was folding laundry and I saw him jerk. I instinctively grabbed my phone and took a video. The seizures had returned.
The thing that is difficult about a relapse is that it makes you hyper aware. We had been thinking we had beat Infantile Spasms but when they came back it made every nap time and waking a fearful experience. I developed severe anxiety about medications and sleeping. I stayed up for hours watching him sleep. I never let him leave my side. It wasn’t healthy but it was how I survived.
We called our neurologist and soon headed back to the office. The plan this time was to combine the ACTH we had left in our fridge with a new medication called Sabril. Again we received warnings of side effects and struggled with the specialty pharmacy to get the drug delivered. A week or two later we went back to Long Term Monitoring for testing and a longer EEG. The EEG was improving which was promising. We did a PET scan which required a long hike over to another hospital. During that stay our son developed a fever. The endocrinologist started us on a cortisone regimen to help with adrenal function after the ACTH. Our medication and specialist list just kept getting longer.
The new medication seemed to be working. His spasms stopped again, we weaned the ACTH and things became a bit more normal. A few weeks later we did another MRI. The MRI image showed some odd changes associated with the medication. The doctor who read the MRI listed a myriad of possible diseases that it could be instead, all terrifying. Things were slowly getting better with our little man. He was happy and sleeping better. We had set up Early Intervention services to help with physical therapy and occupational therapy. Our team kept growing.
The months passed and our son learned to sit independently. The EEG’s were good and we did a follow up MRI after we weaned some of the medications. Everything was back to normal brain-wise. I was able to return to my job. That was a giant challenge but one had to take on. It was the Sabril combination that did the trick for our family. We kept him on a maintenance anti-epileptic medicine and besides low tone we were symptom free.
Today our little boy is now two. We look for inchstones, not milestones. He is a bit behind his peers but has learned to be resilient and strong. He started walking at 19 months. I remember people telling me that it would be a pain when he started to walk “he will be all over the place, you will miss him just crawling.” They were absolutely wrong. We rejoice in every new development and every day we are seizure free. He is talking, saying “Bless you mama” when I sneeze. Squealing with joy every time a school bus drives by. I know we were lucky. We caught it quickly, most of our doctors took us seriously, he responded to the medications.
So, what have I learned along the way?
1. Advocate your butt off. Sometimes you have to push the doctors and therapists. Sometimes you have to question their decisions. Sometimes you have to yell at someone at the pharmacy because that might be the only way they will overnight a medication to you. Infantile Spasms are a medical emergency and you need to remind everyone that every minute counts.
2. Find your tribe. There are some helpful groups of parents who can help you understand things in a way a doctor might not be able to. Take their advice with a grain of salt, but follow the trail they made. Having a healthy child is a privilege and it can be hard to find people who understand.
3. EEG’s are best done with distractions. We used to give our son a bottle or snack while he got his leads and then brought every possible distraction to keep him busy if we needed to. You might have a lot of these and you will get better at them with time. Ain’t no hair-do like an EEG hair-do. Distractions are also good for mom and dad too. Long term stays are the worst. Check to see if the hospital has a Ronald McDonald room, or toys for you to use.
4. Remind yourself that the medical staff are just people too. They like to be thanked, they will forget things sometimes, and they can make mistakes. You are the captain on this ship and don’t be afraid to guide them. You need to be sure that no one drops the ball. Not with your baby. Keep notes and save your papers. Bring them with you to appointments. Also, it never hurts to bring the nurses and secretaries something nice. Everyone works harder for treats.
5. Accept the support. When people have something bad happen other people want to help. You have enough to worry about with your baby. If they want to help, let them. Meals and hugs are a huge help. You can’t do it all alone. Those people will carry you through some of the toughest moments. My husband was incredible during all of this, I got a good one.
6. Trust your gut. If it doesn’t feel right let someone know. If something doesn’t make sense, ask for clarification. You are around your child the most and no one knows them like you.
7. Limit your online searches. The internet is full of useful stuff. But every IS journey is a little unique. There are a ton of reasons that babies have seizures and a lot of ways to treat the disorder. Find a good team. Do your homework. And then, try to stop the searching. It might make you a little crazy.
8. Create a team. Our team included our doctors, therapist, family, and friends. It takes a village to raise a child and a team to raise an IS baby.
9. There will be joy. We made a video of our sons first year of life. When we watched it for his birthday the thing that struck me the most was that despite all of the terrible things that had happened we still found joy. There were more smiles than tears. We really earned that first year.
10. It will not be this way forever. I can’t tell you what is in store for your child but I can tell you this will not be the end of the story. Diagnosis is just a blip in the story of your life. It’s a big blip, but the world keeps moving. You can get through this minute, and then the next. You are tough and you can do this.