How did we get here?

This is going to be a long one…

February 18, 2023 was the first time we took Jordan to the ER for infantile spasms. Jordan had just turned two months old and to that point everything seemed normal. A few weeks prior Jordan was making crunching movements with his arms and legs that looked like he could be struggling to pass gas or a bowel movement. Our first son struggled with GI issues so we didn’t think anything of it. However, the crunching would intensify and his eyes would begin to roll to a point that didn’t sit right with us as parents. We were able to capture some of the movements on video which would serve us well later.

The Friday before we went to the ER I decided to do a google search which I adamantly recommend people don’t do because of the extreme results that can come up. However, in this case I needed some answer. I googled “abnormal baby movements” and the first thing to come up was infantile spasms and the video looked identical to what Jordan was doing. I sent the video to my mom, mother in law, and my husband and asked if this looked like what Jordan was doing. With some mixed feedback I slept on it overnight, but his movements continued. I called the on-call pediatrician because it was a Saturday evening and told them what I was seeing. The doctor recommended I go to the ER because they could do an EEG.

In that moment I finally got emotional and cried as I called my mom to tell her that I needed to bring Matthew over so we could go to the ER with our baby Jordan. Another difficult part to this whole process is needing to leave Matthew, our 2 year old, each time we need to go inpatient for a few days or leave him behind to take Jordan to various doctors appointments. As parents we never want him to feel left out or like he’s living in the shadow of his brothers medical condition.

That evening we went to the ER which of course took forever to get triaged and roomed. It was probably close to midnight when we started talking with the ER doctor and neurology residents. We showed them the videos that we captured and I remember one pediatrician telling me and my husband “if this is what that is you’re in for a long road ahead and we’re glad you’re here” referring to infantile spams. In that moment neurology wasn’t yet convinced that it was infantile spasms but they did decide to admit him for monitoring on the EEG overnight.

Jordan was sent up to the 10th floor and he was hooked up to an EEG monitor. The lines on the EEG meant nothing to me and I so wished I could read them and understand what was happening. The first doctor we saw reassured us that it wasn’t infantile spasms because he did not have hypsarrhythmia at that time. She said he was having “sparks” that could turn into seizures and he would need to be on medication so he was scripted keppra. We stayed for another night and the doctor on staff this day was dismissive in my opinion. He said he would be on medication for maybe three months and grow out of whatever was going on. Jordan also had an MRI that came back as normal.

At the end of this hospital stay Jordan was discharged with “seizure like activity”, a script for keppra, and a follow up appointment for 8 weeks out.

We thought that it would take the medication a few days to get in his system but the spasms didn’t stop. They only got worse. Jordan was having spams up in the 100s per day. When I didn’t get very far with moving Jordans appointment up at the neurology office I sent a message on the portal to the doctor he saw the first night we were in the hospital. I let her know that things were getting worse and he should not wait 8 weeks to be seen. It was the weekend so I wasn’t expecting a response until Monday.

While this is going on my husbands side of the family had a party where his cousin who was present has very good friend that is a PA with another pediatric neurologist at a different institution. They told my husband that we should not wait that long for a follow up appointment and they were going to get us in with their doctor ASAP. That Monday they called and they were able to get us in that Tuesday. That Monday I also got a return call about my portal message stating to increase his keppra dose and to get in the office sooner. I let them know I had an appointment with another neurologist and would call them back to schedule.

We met with this new doctor and she was wonderful. She was patient, reviewed the EEG reports, and explained to us what everything meant in digestible terms. She reported that she would have done the same thing the neurologists in the emergency room would have done. That gave us some relief because we did feel like the hospital dropped the ball in some ways. As she was examining Jordan she was able to see first hand his spams because he happened to do them in her office. She asked to see the MRI as well and she was going to get these records from the hospital for review.

The following day was a Wednesday evening and I was at my in laws with the kids like we usually are on a Wednesday. My husband comes in and said we need to go back to the hospital. He had gotten a call from the doctor we just saw the day before saying she believes she sees focal cortical dysplasia and he should go back to the ER and she placed a call to let them know we would be going there. Of course I’m in a panic because something else is now wrong with my baby and we have to go back inpatient and leave our Matthew again.

On March 2, 2023 we get to the ER and of course we have to wait a couple hours to be triaged and roomed. We explained why we were there and the possibility that Jordans MRI was not as normal as previously read. The ER staff didn’t want much to hear of their team possibly being wrong, but their ego wasn’t my problem in that moment. Just get to the bottom of what is wrong with my son. So we explain the events of the past week and we were admitted for another round of monitoring on the EEG.

It was the second day when me and my husband were chatting about everything going on when the neurology resident came in to let us know that they were seeing hypsarrhythmia on his EEG which was indicative of infantile spasms and they were going to initiate ACTH therapy (which was a battle I’ll write a separate post about). My heart sank because at this point we had already done our research on this condition and knew what came along with it. A lot of fear and unknowns. The resident asked if I was okay and after that question I couldn’t hold in my tears anymore. I just started crying and my husband came to hug me and we just stood to absorb our sons reality together.

We left with a plan to get our ACTH and this would have to be initiated in the hospital because we needed to be trained on how to give the intramuscular injection.

On March 29, 2023 after a battle that felt like I was breaking into the pentagon we got the ACTH in hand and we headed back to the hospital to start the treatment. During this stay Jordan was going to be back on the EEG and we were going to practice giving him the injection. Both my husband and I needed to pass before they would allow him to be discharged. During this stay on the last day we were there we met Dr. Weinstock. It was just by chance that he was the doctor that was on staff that day and he was amazing. He was the first doctor who made us feel like someone had experience with his diagnosis. To this point we had doctors admit they don’t have any experience with this. I can appreciate that admission vs someone trying to convince me they know what they’re dealing with and this happened several times.

We completed this stay, trained on how to give Jordan his injections, and how to take his blood pressure and blood sugar. We were set to follow up with Dr. Weinstock moving forward.

Jordans spasms did not subside until he was 12 days into the highest dose of ACTH which was concerning for his medical team. Typically, ACTH treatment lasts about 4 weeks. Two weeks at the high dose and two weeks of weaning. Jordans was extended to last 3 months. During treatment Jordan did have an EEG that was looking more normal, however during his wean Jordans spasms came back which was Easter Sunday.

Jordan already had another LTM EEG scheduled to assess what was going on. Jordans EEG was progressively worse. Again, meds were changed and he was going to start sabril. We were so apprehensive about starting this medication because you sign off that you understand the side effects which include peripheral blindness. We were reassured by the ophthalmologist that this is rare and usually seen in cases where they are on the medication long term. Initially Jordan responded to the Sabril but this was short lived and he began to regress even more. He used to be able to roll over but he stopped doing this. He just seemed blank at times and this was unlike him. During all of this we were also still waiting for his PET/MRI appointment at a hospital about an hour away.

Like the ACTH, Jordans spasms came back after a few successful weeks on the sabril. His spams were just subtile little eye rolls that most people would miss. His doctor brought him back in for an EEG. This EEG showed that he had full hypsarrhythmia.

His doctor determined that it was time to try high dose prednisolone and sabril together and stop the ACTH. The prednisolone treatment was the worst as far as side effects and I’ll discuss this in more detail in a separate post. The prednisolone protocol was similar to the ACTH he would have two weeks at a high dose and then two weeks in the wean. Jordan responded to this almost instantly and you could tell when the hypsarrhythmia was under control. Unfortunately, Jordan relapsed during this wean as well. Jordans meds were changed to keppra, and sabril only.

We waited months to have his PET/MRI and the results weren’t exactly what we were hoping for. The MRI was cloudy and indicated that his brain was being altered by the Sabril and needed to be stopped immediately. His neurologist quickly weaned him off the sabril and started him on vimpat. There was no indication in his PET/MRI that he had anything wrong structurally. We were hoping that this would lead to clarity on the cause of his IS. But, no, everything was normal. Jordans genetic test was also unremarkable except for a variance of unknown significance which doesn’t mean much of anything.

And here we are now still on keppra and vimpat waiting for our next long term monitoring because Jordan is still having spasms. He is working hard in his therapies and making some progress but something still needs to be done. As parents you never want to see your kids struggle or go through pain. Its heartbreaking to say the least. All I know is Jordan has the biggest support network behind him and a brother that will always have his back.