In honor of Infantile Spasms week below is the text of my 2015 presentation on Infantile Spasms to the New England Tuberous Sclerosis Alliance. Infantile Spasms are a rare catastrophic epilepsy that begins in early infancy. It is marked by subtle movements that mimic the Moro or startle reflex in series but could also be as simple as a head nod. The following is our journey.
Imagine an infant—their round features, soft skin, new baby smell, their warmth against your body as you cradle them. Let those feelings sink in—the joy, comfort, love, and peacefulness of the moment.
Now imagine someone rips the infant from your arms and leaves them in the middle of a busy intersection while you are forced to do the unimaginable, stand helplessly by and watch from the safety of the sidewalk. As uncomfortable as it may be, let the feelings of that imagery rise up—the pure abject terror, the visceral feeling of complete and utter helplessness, the horrifying dread and anticipation, the steadfast hope for safety even in the most perilous situation, the relief as the minutes pass and the child remains safe and sound, the utter anxiety, grief, and sadness of it all.
Now try to hold both images in your mind—the warm comfort of snuggling a sweet infant and the absolute horror of them in danger. Try to hold both those feeling experiences simultaneously in your consciousness. To me this is what it was like having a baby diagnosed with Tuberous Sclerosis Complex (TSC) and learning of the risk of infantile spasm in TSC. In fact, this is how I explained to a friend what I was feeling when Kaleigh first started experiencing infantile spasms at 5 months old. I felt as though my precious baby had been ripped from my arms and was placed in oncoming traffic. Every day I was waiting for the car of clusters to strike her, knowing the results could be catastrophic, yet never knowing exactly what the collateral damage would be in the long run.
Today, I want to focus on the emotional component of having a child diagnosed with both TSC and infantile spasm. We’ll hear a lot about education, what to look for, treatments, and science around these diagnoses. But, personally, even armed with all the information and as prepared as I was logically for the event of possible infantile spasms, I was not prepared emotionally. I struggled and was stymied by the overwhelming experience. Our experience with infantile spasms was anything but straight forward. My hope in speaking is to acknowledge what preparation and medical providers cannot—the very private struggle of parenting an infant having infantile spasms.
Our daughter K was diagnosed with TSC at 29 weeks gestation when an ultrasound showed multiple rhabdomyomas in her heart and increased ventricular volume in the brain. The devastation of the diagnosis weighed heavy but even then I had a sense of relief that I was able to prepare. Some of you here know me, so it won’t surprise any of you when I say I am a planner. I am a card carrying type A personality, academic, research loving, statistical nerd, who likes everything to be orderly and planned.
Did I mention I’m a control freak? Becoming a parent is especially challenging for us high-strung types, under even the most idyllic of circumstances. I handled the diagnosis in my typical fashion, I wept, I reflected, and then I prepared. I read all I could from the Alliance. I looked into doctors, clinics, switched birth plans and OB/GYNs to a practice with a better NICU. I watched videos of infantile spasms.
And then my world changed on Dec 1, 2009. K stopped moving and I was sent for an emergency c-section. She was born pink and screaming and was whisked away to the NICU where she was evaluated and a few days later officially given the diagnosis of TSC. We met with a neurologist from our local children’s hospital and TSC clinic before leaving the NICU. His advice was to enjoy her and call if I had any concerns—he’d see her in 3 months.
The simultaneous joy and grief made it so very difficult to enjoy the first months of her life. At four months old, we took K to a regularly scheduled cardiology appointment where we found she was in heart failure. She was immediately admitted to the PICU for treatment.
There is no preparing for such an event. There are no words to describe the emotion of the experience. And it was during this time that we noticed the first whispers of impending spasms. K was recovering from the heart failure nicely. Her function was improving and we were moved to a regular floor.
My husband was holding her in his lap when she made a slight movement like she was doing an abdominal crunch. I suspected spasms right away and quickly got the hospitalist covering the floor to come in. The APRN entered while K was still making the motion. She assured us it was nothing, likely just reflux, she knew what infantile spasms looked like and these were not them, there was no throwing out of the arms, no distress between the episodes, etc.
This was the first intersection of knowledgeable preparation and emotion for me. It was a spectacular internal crash. I knew spasms could look like this. I knew more exaggerated motion could follow. I knew timeliness was of the utmost importance. And yet I so badly longed for none of it to be true. I wanted to believe the APRN. After all she was a medical professional, she had to know more than me, she had to know something I didn’t. I wanted to ease the anxiety, to allay the terror of helplessness, and feel safe, potent, and in control. This was the underlying experience for me through our entire spasms journey.
K is fast approaching 6. It has been nearly four years since we have seen a spasm and the echo of these emotions remain. The call to go down the path of what if instead of what is and what was beckons me. I cannot say for certain if those were her first spasms. I can only make my best educated guess. I think they were and I carry a lot of guilt for allowing my emotion to cloud my logic. Nevertheless, I went with what the APRN was saying and I can’t change that decision. I mentioned the episode to her neurologist. And we waited to see where things went.
When one night she was playing on her infant gym mat and began to repeatedly throw one arm in the air and crunch her abdomen on that side, I again sprang into action recording a video and immediately calling the on call neurologist. We were again met with professional concern yet assurance. There was nothing that could be done until Monday but increase her the mediation she was on for her simple partial seizures. We brought her in for an EEG that Monday and to sign paperwork for Sabril if needed. The EEG was good. It only showed left occipital, parietal spike discharges. The same ones she had for a couple months and the ones she continues to have to this day. We were told it was unlikely she was having spasms as there was no hypsarrhythmia but they would start Sabril anyway.
Now came the time that the physicians scared the ever loving sanity out of us regarding Sabril and side effects. The chance of peripheral “blindness” was heavily emphasized. Another collision of logic and emotion.
I felt like Seligman’s Dog… True to my nerdiness this is a reference to a famous psychological experiment in which dogs are electrically shocked repeatedly. At first the dogs have no way to escape. Eventually, the experiment is changed so that the dogs have a simple way to escape the shock—they can jump to a shock free cage. But, the dogs don’t. They lay there and endure the shocks over and over. It’s what’s called learned helplessness. It happens to us humans too. We were in a terrible situation. We were helpless. But there was an out and it was Sabril. It seemed equally terrifying. So there was an aspect of freezing under the circumstance. Allowing the emotion to overwhelm. And falling even deeper into the terror of helplessness.
We signed the papers and received Sabril soon after, but we were repeatedly told they did not think these were infantile spasm. I was overwhelmed by it all. Worried about our baby’s future. Would she ever sit up, crawl, walk, talk? Would she be blinded? I was worried about her present. I gave her the first dose of Sabril and held her with hope as she fell asleep. But she really fell asleep. Into too deep of a sleep. I couldn’t rouse her after quite some time. She was breathing and pink but she was not responding to stimuli. I called the neurologist. Placed an ice pack on her bare skin as he recommended and when she did not wake took her immediately to the emergency room. We were told she had Sabril toxicity and to stop the medication.
Over the next few months, K continued to have questionable episodes of clustered movements. They were subtle at times, and dramatic at others. My gut said they were spasms, but our neurologist said they weren’t. There was no hypsarrhythmia. In fact, there was no electrographic correlate with any episode on the EEG. We were told they would not try Sabril for her again. They told us to have her evaluated by GI for reflux, have cardiology see if they were some strange form of arrhythmia or syncope. So we did. Even when my gut said we were going down the wrong path, I was overwhelmed by the disparate experience of my knowledge and the emotion of hope. I could not control any of this. I was in a whole new territory. No amount of will power, volition, preparation, or knowledge could change the feeling of hopelessness and helplessness.
At 9 months old, K began having tonic clonic seizures up to 5 times a day. At that point, I knew we desperately needed to do anything to save our daughter. She was admitted to the local children’s hospital and we demanded that if they would not prescribe Sabril that she be put on the ketogenic diet. We also asked for appointments to be made for us at a hospital with a larger TSC clinic—one that could do a surgical evaluation. The ketogenic diet controlled her seizures nicely… at first. We transferred care to the larger clinic, celebrated her first birthday, and made it to the New Year.
The day after her yearly MRI, Kaleigh had a long cluster of serial head nods. Again, I knew it was seizure. Specifically, my gut knew it was likely infantile spasms. This time I vowed not to get mired in the emotion. To stick with my logic and get K on Sabril. We were at one of the top children’s hospitals in the world and one of the best TS clinics as well, this had to be more straight forward. Another vEEG and another time we were told that what we saw was not infantile spasm—it wasn’t even seizure as there was no electrographic correlate. Again, my heart was filled with hope. These were reputable, world renowned doctors, they had to know what they were talking about. I wanted so badly for what they were saying to be true.
I wanted it so badly that I clung to the hope and almost every day it was shattered by another cluster of serial head drops. My heart was broken every single day. I worried endlessly. K was nearly two, not walking, delayed in fine motor skills, talking but stalled. I knew these were seizure. I feared they were spasm. I did everything I could to advocate to get these episodes and her other seizures under control. I called the doctor’s office every day. I had my sanity questioned by her doctors, my parenting skills debated, I was told over and over again that I was wrong for not trusting that these were not seizure. It was a very dark time. I stood helplessly by on the sidewalk as car load after car load of spasms slammed into our sweet girl. I was eaten alive by doubt, guilt, and the utter pain of it all. But I moved forward, and continued to advocate for diet changes, medication changes, more EEG monitoring—anything I thought might save K from being ravaged by what I was now fairly convinced were spasms.
About four months after we saw the first cluster, 11 days after her second birthday, and with her 8 week old baby brother in tow for the week long vEEG, we finally received confirmation that the head nods were in fact seizure. They were spasms. They showed electrographic slowing during the cluster. The neurologist told us they were juvenile spasms because she was over 18 months old and that these were less deleterious to her development.
I was never so devastated to be right in my entire life, nor do I think I ever will be in the future.
The doctors told us to increase her Keppra and that Sabril was not needed for these spasms. I was flabbergasted, but knew I needed to raise the issue with her neurologist instead of the neuro covering the floor. I will never forget what her neurologist said when I pleaded with her to start K on Sabril. She said, “She uses her eyes. I will not prescribe a medication that could blind her.” Seligman’s dog no longer, I got up and took the leap. I fought tooth and nail, called the patient advocate, and got K placed on Sabril by the end of the week. After our experience, we transferred K care to a doctor, hospital, and clinic that was a better fit for us and were seen a few weeks after initiating Sabril. K’s new neuro only needed to look at videos of K’s episodes to say they were seizure. And with a few med tweaks she had Kaleigh’s spasms and other seizures under control within a few weeks.
We’ve continued to face struggles with TS that have seemed insurmountable; that have rendered us helpless, hopeless, and terrified; but, for now (EVERYONE PLEASE KNOCK ON WOOD), spasms are a struggle of the past and I am able to use that experience to navigate our current difficulties. My greatest obstacle is to leave that spasm struggle in the past–not to be lured by the emotion back to a timeline I cannot change. Every time I am confronted with K’s delays, the siren song of doubt and guilt woo me. What if she was put on Sabril earlier? What if I did this instead of that?
This fruitless exercise takes me away from the beautiful, smart, sassy, vibrant child I have loving me and driving me absolutely nuts, in the best way possible, every single day. It is what leaves me in heaving sobs in the doctor’s office thinking I am personally responsible for her latest discouraging neuropsych results instead of listening to my girl trying everything she knows to try to get me to laugh.
I am certain I am my harshest critic. Nevertheless, it is true that I made many mistakes in our spasms journey. I lost myself in emotion. But, that was not one of the mistakes I made. It was emotion that pushed me on and it was my gut that told me to keep seeking treatment in the face of objective medical data. Another one of the big lessons I learned was that preparation and knowledge are not everything. Knowledge alone did not get K the proper diagnosis and on the best treatment regime. In fact, knowledge in absence of the bigger picture failed her first physicians despite their best efforts. It was the marriage of clinical knowledge, parental advocacy, and passion that helped K.
Lastly, I may have characterized hope throughout this journey in a negative way. It was my clinging to hope that often overshadowed my gut feeling that something was very wrong—that K was having infantile spasms. But, hope is often all we have. It is what holds us together when we are the dog chained to the shocking cage, when we are the imaginary parent watching our imaginary child in the path of oncoming traffic, when we are the parent of a child with Tuberous Sclerosis Complex and infantile spasms doing everything we can to help get the spasms under control. Hope fosters resilience. Spasms are devastating, uncontrolled spasms decidedly more so, and our children are resilient. So, have hope.
Her eyes are a mix of brown and green surrounded by a grayish blue, like tiny wet marble models of our world; they are mysteriously old like the world itself and hold eons of the unknown. I could stare into her eyes endlessly, if she kept still long enough for me to do so. She is breathtakingly beautiful, perfectly imperfect, wild and free, and tragically broken just like our planet.
Water leaked from the blue ocean iris of her eyes, “Mommy! It’s hard!!”
The salty water streamed like rivers breaking the dry sand colored surface of her cheeks and I had to look away before answering her. “Baby, I know; and, you can do hard things.”
I turned back to face her. The earthen-clay color of my eyes reflected back in hers momentarily. I wasn’t lying, but still I had trouble holding her gaze. The truth was she did hard things every day, all day. Most things for her are like trying to grow crops from drought starved fields; difficult and seemingly impossible. Yet, miraculously she grows; like the verdant sprouts that eventually blanket the most unlikely of parcels.
Everyday I wish things were different for her; but, that would be like wishing the wet marble we live on was not brown and green surrounded by a grayish blue.
The sun shone in hot, grazing my knuckles with its rays as the air rushed in from the open window smelling sweet and sticky, a mix of mature chlorophyl and highway fumes, and for a second I almost felt peace. I caught a glimpse of another driver, window down, hair blowing in the wind, and I wondered where she was going or what she was doing and I imagined her freedom. I lost myself in a moment of reverie, as I often find myself doing these days, imaging the days when I was free from seeing the reality of life and knowing those days of freedom are forever gone. The moment lasted but the space of a couple inhale and exhales until I heard her tiny giggle in the backseat and I was snapped back into reality; until I felt the massive weight of responsibility suck in around me. Responsibility like the crushing pressure of water that can rush in to any tiny hole or deformity found in a vessel at sea and displace all the air and eventually crush massive structures sinking them, banishing them to the ocean’s depths; responsibility so massive it is like an ocean.
She yells, “Fresh air!” and laughs again that magnetic giggle that forces all those around to involuntarily smile.
I smile with a twinge of pain as I think how oxymoronic that something so pure and joyous could suck all the air from my lungs and snap me out of the closest moment to freedom I have felt in the longest time. She is almost 9 but still has the giggle of a toddler, like many of her other features.
We are behind the clock, again, rushing to pick up brother; coming from an appointment at the hospital, to get him, and to go to his therapy. This is the third therapy of the week; it’s like soup du jour, every day has it’s own flavor of therapy, mostly for her but also some for him. The car sways with the turns, a little too much, it needs new suspension but we can’t afford it, therapy is expensive, doctors are expensive, this life is expensive.
“Baby, Mama’s had enough fresh air I’m gonna roll the windows up now.”
I feel my breath being sucked out the window like the air being displaced by water in someone who drowns, and I just need the window closed; but there is no end to this drowning, no rescue and no death, just the ever pressing weight of responsibility and no way to swim through it.
I hopped out of the car and the sun hit my back warming me, I hear the noises of summer in the background and wax nostalgic for the time I worked summer camp; I love children more than anything else in this world, I love working with children, talking with them, teaching them, everything about them. How could I not know it could be like this? I opened the car door to help my nearly 9 year old out of her car seat, a full 5-pt harness car seat. I have religiously buckled her in and out of a car seat for 9 years and will continue to do so for the foreseeable future; it’s easy to forget about the monotony of care when they are stages in the developmental march of childhood until the march forward is halted and becomes a never ending merry-go-round.
I prayed as we walked that nothing behaviorally “unexpected” happened at camp today, to who I prayed I’m not sure, because I stopped believing there could be any benevolent spirit in this world the day I resuscitated my daughter in our living room while her younger brother lay sleeping upstairs. Whatever juju there was left I must’ve squeezed out of the universe with that prayer, because we managed a successful day at camp and emerged from the shadowy cool basement of the school back out into the blinding sunlight of the parking lot and back we climbed into the car, ball and chain of responsibility following like the shadow of memory that I can’t seem to escape every time we enter the car, the one that causes my heart to quicken its pace and my mind to replay every time she slipped into a seizure in that car seat I have buckled her into, the one that is supposed to keep her safe, but does nothing to protect her from her own body. Her body, the one I tragically knitted together for her, irreparably broken and in need of support for the rest of her life, both beautiful and tragic, and eternally entrusted to me to defend and protect.
They asked for music, just more din added to their quibbling, the buzz of the tires, and the constant internal dialogue; scheduling, dinner, scheduling, medications, scheduling, to-do, birthdays, what-ifs, politics, am I doing enough, the general on goings of the mind, ever churning like the constant whirring of the gears of a clock inside my head. It’s such a beautiful day, what happened to my freedom? I wonder where that woman was going, wind blowing in her hair as she drove down the interstate. I think this is nothing like I imagined it would be and I know it is never as anyone imagines it would be, but all this with its constant therapies and medications and doctors and emergencies is really so very far from anything anyone could imagine. I love children, they are all I ever wanted, it can’t all be crushing responsibility like the water that rushed in and crushed the Titanic like an empty Coke can under foot.
Friends have children, they drive with the windows down, and breathe deep breaths that fill their lungs with sweet air that smells of lilacs and cut grass. They still experience the delicious freedom of life. They take swim lessons and piano, they complain about dance class and the cost of costumes, they worry about reading and enrichment, and what type of organic sunscreen is best to protect their intact children’s bodies; they live on the sandy beach and I live in the crushing depths with the rusty wreckage of those who have drown long ago. I live where my lungs cannot expand. My lungs cannot expand because I live in the world of therapies that are a have to instead of dance classes that are a want to; in a world where I look at the medications sprawled out on my kitchen table readied to be dispersed into their neat weekly planner and come to the mind-numbing realization that the cost of one month of these medications combined is literally double the average U.S. yearly income (yes, yearly!); and a world where everyday is spent moving crisis to crisis. I live in a world where I am meant to pretend I can breathe because it is the polite thing to do in the company of those who find breathing so natural. Occasionally I find others like me amongst the wreckage, drowning at the crushing depths, we share knowing looks, and try to help each other the best we can but the problem when you are drowning is there is no way to help another who has sunk to the bottom of the ocean.
I’ve lived this life so long I’ve almost forgotten what it’s like to have lungs that move in and out easily like the well oiled machines lungs are meant to be. I forgot until I saw a young woman driving down the highway on a beautiful summer day, hair blowing in the wind, and longed for the freedom of healthy children giggling in the seats behind me and a destination unplanned rather than the therapy du jour.