Kids, especially young ones, are somewhat of a mystery. Simply determining what they do at school all day involves some serious detective skills à la Rust Cohle. We search for clues in backpacks, we question suspects, and we’ll even interrogate minors if that’s what it takes to solve the case. Similarly, when we suspect our kids are sick or unwell, a full blown medical investigation occurs. We instinctively place our protective paw upon their forehead which usually reveals nothing except our inability to read foreheads.
“Is he warm?”
“Maybe he’s just overheated from running around?”
“His normal body temperature is higher than most though”
“You check, I’m not sure.”
Luckily, an 18 calibre ear thermometer is always at the ready in our holster, saving the day with its digital reading (which we check three times to ensure accuracy). If a fever is not discovered, or even if it is, the investigation continues. We study symptomatic evidence, we request expert opinions and when all else fails, we turn to the investigatory master, the Interweb.
Children are a mystery, in large part, because they have the communication skills of a child. Either they’re too young or too cool to competently articulate themselves. As a result, diagnosing a child with a disorder can often prove to be quite challenging, particularly if they are unable to understand or answer standard diagnostic questions. Narcolepsy is difficult enough to diagnose in intelligible adults like myself, let alone jejune three year olds who stare blankly when asked if they suffer from hypnagogic hallucination or sleep paralysis. As a parent, I can easily observe my child’s behaviour and report symptoms such as excessive daytime sleepiness, a protruding tongue or random collapses but I have no way of knowing if my son wakes up in the morning, unable to move. Dylan’s young age was certainly a giant hurdle towards uncovering his diagnosis but in many ways, his age was also a blessing in disguise.
Narcolepsy presents differently in children than it does in adults. Pediatric narcolepsy often occurs simultaneously with complex movement disorders at disease onset but these usually disappears in adulthood (as if narcolepsy alone isn’t enough to deal with!). This phenomenon is outlined in an Italian study I relied on heavily to both convince and educate doctors . Along with the excessive sleepiness, it was Dylan’s protruding tongue and funny arm movements that tipped us off to the fact that something was wrong. If Dylan had been a teenager when he developed narcolepsy, chances are he would not have had a protruding tongue and his excessive sleepiness would likely be overlooked as teenage laziness. It’s easy to explain away symptoms or miss them entirely when you’re an adult but as a child, every little symptom is magnified. I was 14 when I developed narcolepsy but it took over two decades and a severely narcoleptic Baby Bear for me to be diagnosed. At three years old, Dylan’s diagnosis took just six months. A small victory in an otherwise crushing defeat.
As I mentioned in a previous post, according to a 2010 article in the Journal of Clinical Psychiatry failure rates for properly diagnosing narcolepsy are extremely high among a variety of physicians. Neurologists misdiagnose narcoleptics 45% of the time, general practitioners 78.1% of the time and pediatricians almost 100% of the time. True to stats, Dylan’s pediatrician misdiagnosed his illness. At the time, I was ready to switch doctors and sue for negligence. I was certain Dylan’s entire university education would be funded by the impending medical malpractice settlement (I know a good PI lawyer or two). However, when I started doing my research, I soon learned that sadly, narcolepsy is routinely misdiagnosed, particularly in children where the condition is so rare. Dylan’s otolaryngologists (two of them) also misdiagnosed him, followed by an un-diagnosis from his dumbfounded neurologist, proving to be a statistic like the pediatrician.
So who properly diagnosed Dylan? Me. Dr. Mama Bear LL.B esquire. All of the other explanations and diagnoses he received just didn’t sit right with me. He was too sleepy to be suffering just from iron deficiency, he was too temperamental to just have sleep apnea and the anesthesia from his tonsillectomy surely couldn’t still be affecting him 8 weeks post-op, despite the pediatrician’s insistence to the contrary (on second thought, maybe I should have sued him after all). This wasn’t just a phase and he wasn’t going to grow out of it. I knew in my chronically upset gut that something more serious was at play here. My happy, playful, spirited boy had disappeared and was replaced by his cantankerous evil twin. I was one part desperate and two parts determined to get my sweet little man back. His mysterious ailment was my personal Dora Lange.
I became obsessive with my research. Any spare time I had was devoted to Google. At first I was convinced Dylan was suffering from tonic seizures. It could explain his cataplexy attacks and maybe the protruding tongue, but what about the sleepiness? Maybe seizures were so physically exhausting that excessive sleep was the body’s way of recuperating? I started watching YouTube videos of kids having seizures to see if I could find something familiar. But none of them seemed to be quite like Dylan until I stumbled upon a video of a narcoleptic girl.
Five things immediately struck me:
- Her wobbly stance that Dylan too had recently adopted.
- The rubbing motion of her arm against her body. Dylan had recently started doing this exact same strange movement himself.
- At the 30 second mark, the little girl is offered a drink, a seemingly nice gesture which she responds to with the all too familiar whine.
- The mother’s plea of “leave her alone”. I could relate to the panic in her voice. She easily dismissed her daughter’s impoliteness in the way she refused the drink, but jumped at the person who offered her the tasty beverage. This is not an appropriate reaction but it is one I knew too well – an attempt to avoid a meltdown at any cost.
- She is literally the evil twin!
And that’s when I knew. Dylan had narcolepsy with a side of cataplexy.
Although Dylan displayed many of the classic symptoms, even sleep doctors were hesitant to officially diagnose him due to his age. Three year olds simply do not get narcolepsy. Three year olds also do not generally undergo MSLT sleep studies because they are too young to be able to fall asleep on command every two hours. And we had no way of knowing if Dylan was experiencing sleep paralysis and/or hallucinations because he was too young to articulate it. But as with everything, Dylan broke the mold. Somehow, miraculously, by the grace of Prada (my god equivalent) he cooperated beautifully at his MSLT study and it was confirmed without a shadow of a doubt that he indeed had narcolepsy.
Medicating children to treat the debilitating symptoms of narcolepsy & cataplexy is a challenge in and of itself. While there are a decent number of (legal) drugs available to adults there are only a handful approved for children. Of the drugs that are approved for children, some of the most effective ones, like extended release Ritalin, are not available in a liquid form and cannot be crushed into a solution. As a result, we are incredibly limited with the drugs we can give Dylan. It’s also hard to determine the side effects Dylan is experiencing from the medication. Some are obvious, like increased alertness and decreased appetite but some will forever be a mystery even Rust can’t solve. Does the Biphentin give Dylan a dry mouth, or muscle cramps or cause him to feel nervous and anxious? Does the Prozac nauseate him or decrease his sex drive? We might never know.
Once when we were at a doctor’s appointment, discussing which meds Dylan should try next, Dylan sat up and said “Mommy, I don’t want to take Ritalin anymore”. The doctors and I were stunned. I was surprised he even knew the name of his medication. “Why not?” I asked. “Because it makes me sleepy.”
Explaining to your three year old that he suffers from an incurable lifelong neurological disorder is tough. He hears the words coming out of your mouth and he understands most of them but in no way does he truly comprehend what it all means. Or so I thought. Maybe he understands more than I give him credit for? Maybe, just maybe, he’s Keyser Söze-ing us all.