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The Gift of an Early Diagnosis of Narcolepsy

The Gift of an Early Diagnosis of Narcolepsy

Lying in a hospital bed is a small girl who is sleeping so soundly, one would think there is nothing wrong with her. She is beautiful, with delicate features, tapering limbs and a thick head of hair uncommon to a three year old. On her right arm is a bandaged splint securing a venflon needle, the only visible sign that something is wrong.

Doctors come and go, searching for clues that would validate her admission. All she offers them is the shallow rise and fall of her chest, and the skating of her eyeballs, like pendulums grafted beneath translucent eyelids.

She is a fairy tale.

A sleeping beauty waiting to be kissed back to life.

Her mother can't stop herself from listing the symptoms. All filters that would pull her back from telling white coats and friends with flowers that her child keeps collapsing and is incontinent, have dissolved, for she herself is on the edge. Even the night shifters who clean under the bed and offer cups of coffee know about the slurred speech, hallucinations, and the dramatic change in personality.

She doesn't care what they all think. She's tired, frightened, and will do anything for her child.

The next day they are presented with the clinical theory that: "What's common is common."

So the Consultant Pediatric Neurologist is ruling out the obvious problems, and they'll take it from there. The girl doesn't have a Cerebella Tumor, it's not Epilepsy, or Muscular Dystrophy or Leukemia or Lyme Disease. The MRI, EEG and blood tests are clear. The sleep study is inconclusive.

The mother has a deep-seated sense that whatever's wrong with her daughter is an organic neurological problem but the 15 years she worked as a physical therapist are lost on the junior staff that sweep in and out, responding to more important demands of their time like their pagers. Even more, they do not hear the cries of the woman who is sinking under the threat of her daughter's brain damage and all that means for all her family--another daughter, her eight year old son, and 17 year old marriage.

"I don't want to be here." She says, her voice thin and tense.

With nothing to lose she gives in to months of pent up frustration.

"Just look at my family!" she pleads, pointing to the two older children reading at their sister's bedside. They scan the pages, their eyes pinned to the books on their laps. "Do we seem like the kind of people that want to be here?"

But after the spate of recent admissions, the Pediatric Neurology team have made up their minds.

They are here not to check on the heart baby in the next bed, or the toddler with complications from Cerebral Palsy opposite, but to inform the family that both mother and daughter are being transferred.

To the psychiatric unit.

 
Art helps Mathilda make sense of her interior life and give clues into the disorientating nature of narcolepsy.

Art helps Mathilda make sense of her interior life and give clues into the disorientating nature of narcolepsy.

 

I would like to say that the prose above is a work of fiction.

It is not.

It is a true story of how one young girl and her mother narrowly avoided the clutches of psychiatric care in England just a few years ago. But by some incredible turn of events, Mathilda was in fact only a couple of days away from a diagnosis of Narcolepsy--an autoimmune disorder that had destroyed part of her hypothalamus, a lifelong diagnosis that means that even with the best treatment in the world, she would never be the same.

And yet because her symptoms had begun only 5 months previously, she was considerably more fortunate than most. When Mathilda was diagnosed by a doctor from Ahmedabad back in 2010, the Professor and I had a profound sense of relief.

 We had a name for it. We weren't going to lose her.

 
Blood tests identify the genetic marker specific to Narcolepsy, HLA-DQB1*0602. By the time Mathilda got to the team at Stanford in California she'd already undergone numerous invasive tests, was physically unrecognizable, and had lost trust in doctors.
Blood tests identify the genetic marker specific to Narcolepsy, HLA-DQB1*0602. By the time Mathilda got to the team at Stanford in California she'd already undergone numerous invasive tests, was physically unrecognizable, and had lost trust in doctors.
 

Sadly, the average time it takes to diagnose Narcolepsy is 10-15 years. It is a grossly under-recognized condition, one that is barely studied in medical school despite the incidence of Narcolepsy being 1 in 2,000, a statistic only slightly lower than that of Parkinson's Disease and Multiple Sclerosis.

And in those lost years, children with Narcolepsy (CWN) are frequently left un-diagnosed or worse, mis-diagnosed. Here's a list of conditions that are sometimes wrongly assigned to the Narcoleptic child.

In other words, this is what Narcolepsy is not:

  • Schizophrenia
  • Autism or spectrum disorders
  • Oppositional Defiant Disorder
  • Attention Deficit Disorder (ADD)
  • Depression
  • Munchuasen by Proxy  (I feel like I need to type that a few more times for some reason)
  • Epilepsy
  • Obstructive Sleep Apnea
  • Bipolar Disorder
  • Insomnia
  • Chromic fatigue Syndrome
  • Restless Leg Syndrome
  • Seasonal Affective Disorder
  • Conversion Disorder
  • Kleine-Levine Syndrome

I've most likely missed a few but the reality is, Narcolepsy can be a hard diagnosis to come by despite the above list of horrible conditions being quite distinct from a the clinical tetrad of the Narcoleptic: namely, excessive daytime sleepiness, Cataplexy, hypnagogic hallucinations, and sleep paralysis.

It's true that CWN are often depressed, withdrawn, experience mood swings and hallucinations and that there is often overlap (Mathilda had sleep apnea too). They fall behind in school, have poor memories, lack the energy to concentrate and co-operate.

But it's also true that Cataplexy is strikingly unique and specific to Narcolepsy, that excessive daytime sleeping is, well, excessive. And if the relevant tests were performed (multiple sleep latency tests, lumbar puncture and a blood test) along with a sound history, the clinical picture might not be so elusive. Perhaps the underlying factor in all this is that old fashioned skill of listening, and the more modern phenomenon of raising awareness of a not so rare sleep disorder.

And I can't help thinking that once a child is mislabelled, people stop looking. Even more so if they are then wrongly medicated, and the symptoms of Narcolepsy are further obscured.

 
Early diagnosis is of paramount importance to the CWN. Quickly followed up with the right medication to control symptoms, they stand a better chance of leading a "near normal life." At age 7 Mathilda was already 4 years into Narcolepsy. This photo is taken whilst on treatment and post-nap, at which point in the day she is functional enough to attempt a short family hike. 

Early diagnosis is of paramount importance to the CWN. Quickly followed up with the right medication to control symptoms, they stand a better chance of leading a "near normal life." At age 7 Mathilda was already 4 years into Narcolepsy. This photo is taken whilst on treatment and post-nap, at which point in the day she is functional enough to attempt a short family hike. 

 

And why is a early diagnosis so crucial? Why does it matter what they call it or whether or not we were re-routed to psychiatry?

If we felt relief at Mathilda's diagnosis, it was coupled with the kind of burden that hangs round like your neck like a garland of stones. That this condition would shape her character, determine her academic outcomes, opportunities and adult life. It would be so defining that she wouldn't remember life without it or envision a worthwhile life with it.

And that's true. She doesn't remember life pre-Narcolepsy. She doesn't know what it is to sleep unaided at night or ever feel refreshed, energized.

What little literature there is on Narcolepsy in children points to how important it is to secure an early diagnosis and then to get treatment underway. In a sense a diagnosis that stands alone is academic--almost meaningless to the child. Because without medication there is no way we could attempt a near normal life.

For CWN don't have years to lose while they wait for the rest of us to figure it all out. They don't have time to fall behind at school and spend each night navigating the terrifying aisles of loneliness with only the ghoulish characters of their hallucinations as company.

They are children. And they deserve a childhood.

With grateful thanks to Dr. Siddarth Shah for recognizing Cataplexy in a three year old and to Peter Todd who is finding a way for British CWN to have access to Xyrem through the Department of Health. Xyrem isn't for every CWN but Peter rightly feels every family should have the chance to try it. 

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