Infantile spasms – those two words actually give me goosebumps to this day. Sometimes when I tell the story about Brayden to another person, I notice that I almost whisper these words, as if by some strange superstition the disease can be summoned to return when I say it out loud. With that said, I still love sharing Brayden’s story because I think it is one of those stories that can give other moms some hope. After Bray was diagnosed, I was terrified by his prognosis, but there was one positive story posted online that I held onto with everything I had. If you are reading this because you have a child that was diagnosed with infantile spasms and are reading as many stories as you can (totally been there!), please read on. I won’t pretend that my son doesn’t face his own challenges (who of us doesn’t?), but he is amazing and teaches me new things every day. As a disclaimer, I am not a physician and am just sharing my son’s story. Please consult your physician for any concerns or treatment decisions for your child.
It all began when Bray was 4.5 months old. We started noticing these strange movements that mostly happened when we were feeding him. The first time it happened, his eyes rolled back and his arms flew out to the side. To be honest, in my ignorance, I thought maybe he just swallowed his milk wrong or had heartburn. It was so easy to rationalize away.
A day or two later, my husband mentioned that he noticed a similar thing and Brayden’s daycare said they noticed as well. Whatever these events were, they began happening more frequently. I remember that we were right in the middle of discussing whether we should call the pediatrician to make an appointment or go to the emergency room when my son’s whole body started shaking in my lap. His eyes were fixed somewhere off in the distance. Then, we both knew – they had to be seizures.
Of course, that made the decision easy – we were off to the emergency room. The ER was busy and the staff rushed us through the story of what happened. They did not feel that his case warranted a visit by an attending physician. The resident told us not to worry about it and that sometimes heartburn in babies can look like a seizure (which, in their defense, is true). They said to follow-up with my pediatrician to see if he thinks an EEG is necessary, but they did not think it was a seizure (despite not performing an EEG). We walked out of the ER with a script for Prevacid (a medication for heartburn) and false sense of security. That was probably the last time in my life I ever trusted a doctor without hesitation.
A couple of days later, the “heartburn” events started happening in clusters. His eyes would roll back, his arms would fly out to his sides, and his knees would go into his chest. The only difference was that the movement became much stronger and happened about 10 times in a row, multiple times a day. I can still remember the look on Brayden’s face after an episode – he looked confused and scared. He would always cry.
It had been less than a week since our ER visit and I couldn’t shake the feeling that something wasn’t right. I was telling my husband that my mommy radar was detecting something really bad (always trust your mommy gut!) and then, as if on cue, Brayden had another full-blown seizure right in front of us. His whole body was shaking and you could only really see the whites of his eyes. Luckily, we were living only about an hour and a half from the Children’s Hospital of Philadelphia (CHOP), so we decided to pack our baby into the car and get a second opinion.
The experience at CHOP was very different than the prior hospital. The emergency room physician was amazing. He literally sat down with us and said “Okay, start from the beginning and by beginning, I mean your pregnancy”. He actually listened to me recount everything and even though it was the emergency room, I never felt rushed. He ordered a neurology consult and when the neurology resident came to see us, Brayden had a seizure right in front of him. The resident had us record the seizure with our phone and he called his attending physician to come down. In retrospect, I wish I had recorded some of the episodes earlier. The attending neurologist came into the room, watched the video and then looked at the resident standing next to her and said “order it, STAT”.
My son had his EEG and when he was done, we just went back to the emergency room to wait. I hated that wait. There are some things in your life you can’t erase from your memory – that wait was one of them.
When the doctor came back into the room, she looked at me for a split second and then looked down. It’s never a good sign when someone can’t look you in the eye. I knew as soon as she looked down that it was going to be bad, really bad. What came next would change my son’s life forever. She said that the EEG showed hypsarrhythmia (pronounced hips-uh-rith-me-ya). What is hypsarrhythmia you ask? It is an abnormal EEG pattern that is associated with infantile spasms or West Syndrome. People always seem to think seizures in children are mild or caused by fevers – this is not one of those seizures.
She proceeded to tell us that 80-90% of children with this condition have moderate to severe cognitive impairment and that the medications needed to treat this condition are very strong and carry a risk of death from treatment complications. She explained how this seizure type is rare and occurs in only about 2 kids in 10,000. In other words, 99.9998% of children do NOT have infantile spasms. Then she told me not to go home and google because she didn’t want me to lose hope.
She provided much more detailed information about the condition, about his EEG results, about treatment options, but all I kept hearing was cognitive impairment and death. It couldn’t be real. This was not supposed to be his life. So what did I do? I went home and Googled the crap out of it. Everything I read referred to it as “the catastrophic epilepsy”. And that risk of death she mentioned…up to 30% chance before the age of 2 years old. I cried alone in the bathroom because I wanted to look like I was strong. I wasn’t strong. I was scared and sad and felt hopeless. I’m his mom – I’m supposed to protect him. What if I ate something wrong when I was pregnant? What if I didn’t notice the seizures soon enough? What if…what if…what if…
The next morning, I woke up to Brayden crying on the baby monitor. I sat up in bed and couldn’t move. I just sat there and wondered if everything was just a bad dream. I was in a complete fog, not understanding how life had changed so much in 24 hours.
Over the next few weeks, not only did his development stop progressing, but it began regressing. He forgot how to roll over and eventually forgot how to track objects. He stopped looking at us for the most part. They had him on high-dose oral prednisolone (40 mg/day to start) and the medication ravaged his body. In the doctor’s defense, she warned us ahead of time that it would be rough. Brayden doubled his weight (as you can see in the picture above). He wasn’t sleeping, was extremely irritable, had to go on blood pressure medication, started having trouble breathing…I could go on and on.
He was having about 15 episodes a day with about 30 individual spasms making up each episode. Sometimes a more typical seizure presentation would be thrown in there. Not to mention that with hypsarrhythmia, his brain was having abnormal activity ALL the time, even when he was not having an outwardly symptomatic seizure. All I could do was hold him and tell him it would be alright. I was lying…I had no idea if it would be alright. To be honest, I might have been saying it more for myself than for him.
We were at the hospital constantly. EEGs, MRI, EKGs, spinal tap, constant bloodwork, nephrology consult, cardiology consult, neurology follow-ups, etc. In the majority of cases, they find a cause for this particular seizure disorder, but in Brayden’s case, they never did.
At one point, we thought the seizures were gone since he had gone about 48 hours without one, but they came back with a vengeance. Even increasing the dose of his medication to 60 mg/day did nothing. They kept getting more frequent and I felt like I was being swallowed by a massive vortex. The doctor had said the toll the medication was taking on his body was too great and I felt like I was losing my mind. I couldn’t help him and all I could think was “I am his mom – why don’t I know how to help him!?”
All the time, I just prayed. Everyone prayed. People I barely knew said they would pray. Relatives across the country were praying. People I hadn’t seen in years were praying. People who don’t pray were praying. In desperation, I tried bartering with God. I begged…crying, on my hands and knees. I would love to say that I had enough faith to know that everything would be okay no matter what, but I didn’t. I was devastated, terrified, and lost.
Since the prednisolone did not seem to be working and the doctor said his organs were starting to shut down, we had to switch medications. The first one offered was vigabatrin. For those of you who don’t know vigabatrin, it is one of the medications where you have to sign a paper stating that you understand the risks before you take it. We were told it had a 30-50% chance of causing permanent peripheral blindness. My doctor actually had me cup my hands around my eyes so that I could see it wouldn’t be too terrible without peripheral vision. It didn’t really work, but I love her for trying to make me feel better about it.
Still, I had a strong feeling not to use that medication. I remember that friends in church would always say they felt God speaking to them about a certain issue in their life and this was one of those moments where I actually understood what they meant. I admit that I am not sure I really ever felt that prior to this experience. After some research, I had seen that in Japan and Europe high-dose B6 helped children in some small studies because there is a very rare genetic deficiency that can cause this type of seizure. The doctor agreed to try it and ordered a genetic test for him as well.
We started the B6 and a few days later, the seizures stopped (praise God!). We just kept waiting and waiting. Staring at him every day. I don’t think I ever took my eyes off of him, looking for any sign of them…but they didn’t come. Even the neurologist was shocked, especially when the genetic test came back negative, so there was no reason why B6 would have worked. It was a miracle – I had just witnessed an actual miracle. (To be clear, I am not advocating forgoing or delaying medical treatment without a clear scientific rationale and agreement from your physician. In this case, there was supportive data, a clear biological/genetic pathway why B6 could work, and agreement from his neurologist, which is why we tried it given side effects associated with the alternative.)
Brayden was getting physical, occupational and speech therapy and began developing more and more every day. He began running, playing, interacting with other kids and even starting to speak, which they weren’t sure he would ever do. I remember in my prayers, I asked that whether he was meant to be cured or not, please just let him be happy. He is the happiest kid you have ever seen. He smiles constantly and loves to laugh. Even more than that, he loves making other people laugh. He was diagnosed with autism at the age of 3.5 years. It took a while to get the diagnosis because it was hard to tease out the developmental delays vs. autism. So, at that point, he also started ABA therapy, which has been a tremendous help. We found a therapist that really fits his personality and is one of his favorite people. I know I am biased, but he really is an amazing child. He is so loving and kind. He is extremely social and loves talking to people and making friends. They said he might never speak, but he is having full conversations. He is reading, writing and doing math pretty much at grade level. He has a best friend who he talks about at home and a girlfriend (lol!). He struggles a lot with attention, and we work on it, but to be honest, I can’t believe how far he has come. He has had to overcome more in his life than I ever have. He’s my little hero and my absolute favorite person.
A couple of years back, I told Brayden’s story to a mother who was facing some challenging medical news about her daughter. She said to me, “this is the first time I feel like I have hope”. It is very easy to lose hope in this world, especially when the odds are not in your favor. When Brayden was diagnosed, I scoured the internet looking for just one story, one happy ending to give us hope. I remember finding just one and I clung to that one story with everything I had because there were so many sad stories. I just wanted to share our story so that maybe it can give someone the hope that I needed. Even though we don’t see them every day, miracles do happen.
Jesus looked at them intently and said, “Humanly speaking, it is impossible. But not with God. Everything is possible with God.” Mark 10:27 NLT