November 20th, 2021 started out like any other day for our family. We noticed our daughter Codie (who to our knowledge was a perfectly healthy, happy girl turning 6 months old that weekend) was noticeably tired and cuddly even after a good morning nap, but didn’t think too much of it. After her second nap, however, my husband was holding her upright and we noticed her kind of “drop” her head quickly, and then pop right back up again. Almost as if she involuntarily lost control of her neck strength for a second and then regained it. She didn’t appear bothered by it and looked around the room, at us, moved around, etc… and then it happened again. And again. And again. I had noticed her do the same thing a few days prior on the way upstairs for a nap.. she had kind of dropped her head into my cheek twice. It was enough for me to notice, but since she was tired and there were no other signs of anything being wrong, I brushed it off. However this time it didn’t sit right with me and an immediate red flag went up. I’ve seen “drop” seizures at work before and while Codie’s weren’t nearly as dramatic, it resembled them and didn’t look voluntary. I called 811 to talk to another RN for a second opinion and this was the first (of a few) times we heard “it doesn’t seem like seizure activity” and “babies do a lot of weird things” but she agreed that involuntarily losing head control for even a split second, repetitively warranted a trip to the ER to cover our bases. I was so set on atonic seizures that I didn’t even involve “Dr. Google”.. but if I had I probably would have come across the rare diagnoses she was about to receive fairly quick.
~ I’ll preface this by saying we are so thankful for our children’s hospital and have received outstanding care. West Syndrome is rare enough that not a single resident doctor we had in any of our ER trips in November-December knew was it was. We are just thankful a pediatric neurologist was called and knew what we were dealing with ~
We took Codie into the JPCH ER and the first 3 doctors we saw (the first one asked others to come in and watch our video of her doing the head nodds/drops) all didn’t think it was seizure related and didn’t feel the need to do the EEG I was asking for. She was assessed by all of them, and the only thing that raised a bit of concern was when they asked if she had regressed in any of her skills. She hadn’t lost any (yet), but I had told my husband earlier that she was a lot “lazier” with practicing her skills than she usually is this last week. She also seemed a bit less smiley & babbled less which is unlike her, but you could still get a smile when you wanted one. The main thing I had noticed in the few days prior was her independent sitting. She had been doing so good sitting up to a minute plus by herself at a time (I even have a video of her sitting for almost 2 minutes on the Tuesday prior) and all of a sudden lost the interest to try and would sit for a few seconds and fall over. She was fussier this last week and waking up more at night and I had assumed we were going through a developmental leap or sleep regression.
In the end they weren’t convinced it was seizure related and it was chalked up and “weird baby things” and we were told we could go. I said if it happens again I’ll be right back in here, and she said to absolutely come back. I packed Codie up and called my husband to pick us up at the doors and that’s when the resident came back in and said quickly ran it by one of their pediatric neurologists and she insisted we be admitted for an EEG the following morning. I was relieved we were getting the EEG to rule out seizures, but my stomach dropped thinking that she thought I could be right. Cole was able to come in now, and soon after that Codie had another “cluster” of head drops as we were in the ER. We got it on video quick and a few doctors came in to check out the video. This cluster was progressively worse and we could see her eyes roll up a tiny bit with each head drop. Her episodes happened a few more times that evening after we were admitted to our room.
Codie started the next day with a cluster shortly after awakening (which we later learned is the most common time for them to occur), we met more of our medical team including the neurologist and began the EEG around 10AM. They told us it could either be atonic seizures or infantile spasms (a rare and severe form of childhood epilepsy), and that we are hoping for atonic seizures. Looking back I know that she already knew it was infantile spasms, she just needed to confirm it. We started her EEG and it wasn’t long before the tech came in to start removing everything, and said the neurologist saw what she needed to see. Our hearts sank, because Codie hadn’t had an episode while her EEG was on. A few moments later our neurologist came in with “the look”. I know all to well as an RN having been in the room when bad news is delivered countless times what this specific facial expression means. I blurted out “please just say it!” and she replied “Codie has infantile spasms, or more specifically West Syndrome”. She confirmed that Codie’s EEG shows “hypsarrythmia”, which are chaotic and disorganized brain waves that are detrimental/catastrophic to development if not successfully treated immediately. To be diagnosed with West Syndrome you need at least 2 of the 3: clusters of infantile spasms (seizures), hypsarrythmia, and/or developmental delay. The seizures present as “spasm” movements that vary in appearance but most commonly present as body crunches/jackknifing, and are often misdiagnosed as reflux leading to children not receiving proper treatment quick enough.
I held and hugged my precious baby girl as our hearts sank. We had a quick hard cry, and then got right into what this could mean for Codie’s future and asked as many questions as we could think of while our minds were spinning. Our neurologist explained that while the hypsarrythmia is replacing her normal brain waves, she won’t be able to learn or develop appropriately in any areas: therefore the main goal is getting rid of it. The longer it stays the more developmentally delayed she will become. She educated us on treatment routes, potential future diagnoses (these kiddos will always have an increased risk of future seizures of any type, autism, speech is common to struggle even if the meds do work quick, etc), and most importantly how IS isn’t the same for every child. She couldn’t give us a picture of what her future may look like, as she has seen kids (more rarely) respond to medications and live a developmentally normal life and she’s treated many more kids that are now total care (unable to move, eat, talk, etc by themselves) as well as many outcomes in between. The outcome is a spectrum that depends on numerous factors and each individual kiddo will blaze their own trail and fight their own battle differently. She told us we are looking for 4 key factors for a stronger shot at a normal or somewhat normal developmental outcome: 1. Developing normally prior to diagnoses✔️, 2. Diagnosing it early✔️, 3. Responding to one of the first line steroids as soon as possible, 4. Not being able to find the cause (possibilities to test for are genetic, metabolic, structural/brain malformation/trauma). At this point Codie had 2/4 which brought us so much hope in that moment. Hope that we clung on to for dear life. The next steps: MRI the next day, start medication based on the results, bloodwork for genetic & metabolic tests.
The next few days were long and hard but Codie handled it like the little warrior she is. She’s stronger than I’ll ever be. Her MRI came back normal, we started the first line steroid that evening, did some more bloodwork, urine, etc. and were discharged on November 23rd (her 6 month birthday) to begin our journey with West Syndrome from home. Not knowing what the future holds for your child is the scariest feeling I’ve ever known.
Steroids were a difficult journey but they were our miracle drug so it was 100% worth it. She had on and off roid rage, was irritated, fussy, woke up every 45min-2hrs at night and wanted to eat 24/7. She gained 5lbs in 3 weeks (equivalent to me gaining 45lbs in 3 weeks). Seeing her so visibly uncomfortable on top of everything else was so hard. However, the seizures got worse before they got better and then a few days later they slowed. Her second last day she had 1 cluster of 27 seizures and the the next day (day 4) we saw the smallest cluster of 6 followed by our first seizure free day on November 27th! 🎉
We were OVER THE MOON! My husband and I understood that she can relapse at any time (and she still can) but the feeling of your child having their first seizure free day is indescribable. Following this day she was noticeably more herself, started slowly re-learning skills, and started smiling a bit again! 😄 We were hopeful that this meant the hypsarrythmia was also taken care of, and we would thankfully discover that it was gone at her two week follow up EEG! Codie continued on her 2 week high dose steroids/2 week wean and had her last dose on December 23rd at her first family Christmas supper!
We had another EEG two weeks after her steroids were stopped, and although she had some slowing in her left temporal lobe we were ecstatic to know the hypsarrythmia didn’t return as it commonly can once steroids stop. We feel so incredibly blessed to be able to say that she has remained seizure/hypsarrythmia free ever since (almost 5 months!!) and has worked her little butt off re-learning old skills and learning so so many new skills! Because it’s extremely common and almost expected for kids with IS to have some form of developmental delay, Codie was enrolled in the Alvin Buckwold Early Childhood Development Program and started PT in January. She’s an extremely busy girl, practices every day with mama’s version of PT at home and has gone from a bit below average to a bit above average in her gross motor skill development and is fitting in right with other children her age! She will begin SLP and OT in a few weeks.
As for Codie’s “cause”, we were originally told she was cleared of genetics and metabolics and her cause was unknown. However, we sadly found out there was an error in communication and this was not the case.. she actually had both come back abnormal. Codie’s epilepsy panel came back with 1 pathogenic gene mutation for a biotinidase deficiency (even more rare) and 5 gene mutations of “variance of unknown significance”. At the moment her geneticist doesn’t believe it’s her cause and she is now being supplemented for this. It’s thankfully one of the few metabolic conditions that are 100% treatable with a supplement. He also doesn’t believe the VUS genes are the cause or will cause her any health issues. One metabolic test came back “abnormal” and Codie is now currently being tested for a genetic disease called Congenital Disorder of Glycosylation through Whole Exome Sequencing (more in depth genetic test) as no known CDG gene mutations that are known to cause epilepsy were flagged on her epilepsy panel. Children with CDG typically have a lot of health issues with different organs and seizures that don’t respond to meds well and as of right now Codie doesn’t match any of the descriptions, however it’s extremely rare and many new types of CDG causing gene mutations are still being discovered each year. So we are currently playing the waiting game to find out if she will have a new diagnoses, or go back to being an unknown cause.
Codie is currently living her best life, playing with friends again, smiling, babbling and laughing all day and learning to stand and take steps by herself! Although we know she can relapse at any time, we cherish every seizure free day and live each day with her to the fullest. Codie’s journey has opened our eyes to so much and has given us a new outlook on life. We are so incredibly proud of our strong little warrior💕