Infantile Spasms (IS) don’t sound or appear harmless, but they are really detrimental to the brain of a developing child. They are considered an age specific epilepsy that typically begin between 3 and 8 months of age. We had already been warned at the time of the PT13 diagnosis that Luca may develop seizures at some point, but we were hopeful that it wouldn’t happen. IS can be “cured”, but oftentimes leads to the onset of other types of seizures. There is know known cure for epilepsy, but it can be managed. Babies with IS typically stop developing and may lose skills like sitting, rolling over or babbling. IS is also referred to as West’s Syndrome.
Symptoms of IS:
- Consists of a sudden stiffening of the body, arms and legs and head bends forward.
- Each seizure lasts only a second or two but usually in a series.
- Most common just after waking up and rarely occur during sleep
Luca’s developed in June of 2015, he was 10 months old. At the time, we was babbling, rolling over and just learning to sit on his own. IS destroyed those skills; they were completely lost. Since Luca was already developmentally behind, this was a huge blow to him.
These were diagnosed early and by accident. Luca had just had surgery a few weeks prior to pull down his undescended testicle from his abdomen since it never came down on it’s own. Shortly after, I noticed that his legs would just rise up in the air and then go back down out of nowhere. I don’t know why, but I emailed a video of it to our geneticist to see if this was related to PT13 or if could possibly be related to his surgery. Not even a day went by and she called Greg at work and said we needed to get Luca to the ER right away, she had believed this was a type of seizure. She had already shown the video to a neurologist and he agreed they we need to bring Luca in for further evaluation.
When we got to the ER, things happened quickly. Luca was checked in, evaluated and sent up for an VEEG (video EGG). I went into the room with him since only one parent was allowed at a time. It took only about 30-45 minutes and they released him back down to the ER. On the way down, my poor baby had a seizure in my arms, I could feel his poor little body trembling and I knew that we were going to be getting some bad news and my hopes that the geneticist was wrong were gone. The neurology team came in and said that Luca did in fact have IS, his brainwaves were showing hypsarrhythmia. This is an abnormal pattern of spikes in a background of chaotic and disorganized activity that is clearly noticeable on an EEG.
Later, we also learned that Luca had been displaying another type of symptom of IS. His head would suddenly drop and then he would hold it back up as if nothing happened. It was super quick and we thought he just had a weak neck due to his low muscle tone.
The first step was to get an MRI to ensure there was no malformations in Luca’s brain. Thankfully, his bran looked normal! This was the BEST news that we could ask for during this stressful time.
Since Luca’s spasms were caught early and our neurologist happened to specialize in IS, he recommended the most aggressive course of treatment possible to try to get rid of them as quickly as possible to reduce possibility of any further negative side effect’s on Luca’s brain. Little did we know how rough this treatment would be! Our doctor recommend ACTH (adrenocorticotropic hormone), which is a steroid injection given twice daily for 6 weeks.
Since this is powerful steroid, the side effects are AWFUL. The are irritability, increased appetite and weight gain, high blood pressure, low potassium in the blood, and high blood sugar. I had to learn how to give Luca an injection the the side of his leg. We did the right leg in the morning left leg at night. I had no idea I would have to learn to pull a syringe, let alone inject my son with this thick gel and a not to small needle. I learned quickly and it made me sick to stomach to think of what each injection would do to my child. On one hand, they would fix his brain. On the other, they made him completely miserable.
In the hospital before the medication started:
We started the injections as soon as Luca was admitted as a patient (shortly after the IS diagnosis). We stayed in the hospital for 2 more days to while waiting for insurance approval for this INSANELY expensive medication as well as until the prescription was filled. This could only be done via mail order and we could not leave without a tracking number for Luca’s package. While we were there, we noticed no changes and hoped we would be the lucky ones to escape the nasty side effectives we were warned about.
Shortly after we returned home, the side effects became apparent. Luca’s appetite increased tremendously and it seemed he couldn’t get enough food. That was followed by what I can only describe as severe ‘roid rage! He was literally only happy if he was eating or if we were on the move. I can’t tell you how many laps I did bouncing this kid around my house, how much food I made him and how many walks we took around the neighborhood. Literally, I would go for a long walk right after breakfast, after nap time and in the evenings. He was only relaxed when on the move, so the stroller became my saving grace. The most awful feeling in the world is to not be able to help your child. I was truly HELPLESS and had to wait for the weeks to go by so we could start tapering. Since high blood pressure is a huge concern, I had to take Luca twice a week for weight and blood pressure checks and once week for blood work to monitor his blood sugar levels. Thankfully, although both were high, they never got too out of control.
Shortly after the injections started, Luca blew up from the water retention.
It was undoubtably the worst month of my entire life, but I would still do it all again if I had to. After the 6 week cycle, we were almost weaned from the ATCH and had high hopes of a normal EEG. Although Luca’s brain activity had improved tremendously and the spasms had stopped, he still had enough abnormal activity to be concerned for a relapse.
Introducing the next medicine, Sabril. We had to crush these pills twice a day in Luca’s food. SO much better than injecting him with a needle! However, Sabril is also a scary drug. While it’s helpful to someone with IS, it can create major vision problems, specifically, loss of peripheral vision. Before you even start, you have to sign a waiver indicating that you are aware of the risks AND you have to see an opthlamolgist so they can monitor your vision while on the drug. Thankfully, the plan for this medicine was only short term, so Luca’s risk was reduced. All of his vision testing came back normal, so Luca escaped the side effects. He stayed on Sabril for 4 months. The next EEG showed that the spasms and the hypsarrthymia were gone and he was in the clear from IS!
While still on Sabril, a new type of seizure entered our lives. We had been warned that they were likely, but we were not at all prepared. Luca had several focal seizures before our our next routine EEG appointment was scheduled. These were SCARY! The first time it happened, it was after lunch and I was only my way upstairs to change his diaper before his nap. While carrying him, he suddenly felt really heavy and his body became extremely limp. As I laid him on the changing table, I noticed his lips were turning dark blue and his color was fading fast. I immediately thought he was choking on something and scooped him up and ran down the stairs with my finger down his throat to try to get to the sink. Never a good idea, but in my panic, that’s all I could think to do! The bouncing from running down the stairs and getting to the sink to get water seemed like the best options. He ended up vomiting half way down the stairs and his color started to come back. He cried for a minute and then fell into a deep sleep. What the heck just happened?! I didn’t know at the time this was a seizure. But, it happened several more times over the next couple of weeks. I knew he wasn’t choking the second time, but my reaction was still the same. Stick my finger down his throat to check his airway, even though I knew nothing was there. Te same vomiting episode was followed by the same long nap. I called the neurologist and he wanted us to get in ASAP for another EEG. Before our appointment, this happened a couple more times. It got to the point where I now knew it was a seizure and that it would be over soon, although those seconds seemed like hours until his color would return and he would be okay. I literally thought he was dying the first couple of times since his body would go so limp and his face and lips would become so blue. It is definitely horrifying to watch and I hope that I don’t have to see them ever again.
In the hospital for an EEG
The next EEG showed focal and myoclonic seizures were present. We had only seen the focal seizures since they were so obvious. Luca’s myoclonic seizures were little hand jerks here and there, nothing that was obvious unless you knew what to look for. This appointment introduced us to Keppa. We stopped the Sabril wean and picked up Keppra. It seemed do to the trick, but Keppra came with it’s own nasty side effects. Keppra made Luca pretty grumpy and sleepy. Not like ACTH grumpy, but he still wasn’t himself. We started giving him extra vitamin B6 to try to help with the side effects, which worked a little. We continued to go back for EEG’s and things were looking good so we started the Sabril wean again and finally came completely off. The Keppra was doing the trick on it’s own.
We stayed on only Keppra for about almost a year when another focal seizure broke through, it was June 2016. He was at the max dose for his weight, so this introduced Onfi. I hated the Onfi. It changed Luca even more. It’s so hard to not really know who your child is since they are so medicated, but then again, this was better than watching my poor boy seize. Around the time we started Onfi, Luca started biting his left wrist out of frustration. I don’t know if it was the way the medicine made him feel or if this was a whole new issue with his sensory system, but I was done. Onfi had to go.
After countless hours of research, we decided to take a more holistic approach. We worked with the neurologist on a plan and Luca came off of the Onfi slowly. His EEG was improving and things were looking great. I am happy to say that we have also reduced his Keppa dramatically and things are still great. I haven’t seen a seizure in over a year! My fingers are crossed that his luck continues and this new approach continues to be successful. (If you would like further info on this, please send me a message.)
What’s the outlook for children with Infantile Spasms?
- Most children with infantile spasms have intellectual disabilities later in life.
- Those whose infantile spasms are related to an underlying brain disorder or injury have a higher likelihood of moderate to severe developmental delay.
- Some children with infantile spasms develop autism.
- Even if the infantile spasms stop, most children later develop other kinds of epilepsy.
While Luca continues to go for regular EEG’s every 6 months to make sure things look okay, they are still not normal. Due to the underlying genetic condition (Partial Trisomy 13), it is unknown if this the current EEG’s are he best his brain will ever be…perhaps his brainwaves have always looked like they do with small spikes that are considered “risks”. We will just watch and learn more from Luca as time goes on!