How evolving diagnoses and unclear terminology can undermine patient trust—and what clinicians can do about it.

By Sree Roy

It can be tempting to decipher the cause behind an “invisible illness” such as narcolepsy. A measurable metric, like a cerebrospinal fluid orexin level, can reassure the patient and provide confidence that a mechanistic-based treatment will work. But I fear that when it comes to disorders of hypersomnolence, where a diagnosis can evolve—especially between narcolepsy type 2 (NT2) and idiopathic hypersomnia (IH)—sleep physicians are leaving lost, confused patients in their wake, when these patients need a life preserver in the form of validation that their symptoms are real.

When patients get attached to their diagnostic identity, its evolution can take a toll. “People could be diagnosed with [NT2 or IH], then have another sleep study later, and then be switched to the other diagnosis,” Julie Flygare, JD, president and CEO of Project Sleep, told me. “And that leads to a lot of people feeling like their condition isn’t real or that they don’t fit in.”

Flygare, who has narcolepsy type 1, notes that many patients with type 2 gravitate to the idea that they too have a loss of orexin, “because it’s wonderful to be able to know a cause.” But this isn’t accurate for most, and the truth is even more complex. We know that in a minority of narcolepsy type 1 patients, a lumbar puncture does not measure orexin deficiency, meaning science does not know the origin of cataplexy for everyone in whom the symptom appears.¹

This is where the focus must shift from the label to the lived experience. “It is important for us to always lead with: what is the person telling us, before we’re allowing tests to define what the person’s story can actually be,” says neurologist-sleep physician Anne Marie Morse, DO, director of pediatric neurology at Geisinger Medical Center. She cautions that the science we have is a “partially-baked story” and that we must not “start invalidating or dismissing people, because they don’t fit the script.”

With the advent of orexin agonists poised to create the first treatment divide between narcolepsy types, these conversations will only become more critical. Sleep physicians can do better by people with disorders of hypersomnolence.

At the time of diagnosis, and especially if a diagnosis evolves, clinicians can build trust and provide crucial support.

Explain the gray areas. Let patients know that the diagnostic lines between narcolepsy type 2 and idiopathic hypersomnia are blurry and that it’s not uncommon for a diagnosis to change.
Validate the experience. Reassure patients that their symptoms are real and their experience is valid, regardless of the label attached to it.
Define the symptoms. Many patients don’t recognize their own symptoms until they are clearly explained. Flygare sees this in Project Sleep’s Rising Voices program, where advocates learn the definition of cataplexy and realize, “Oh my God, that happens to me.”
Connect them to community. Groups that provide patient education (Project Sleep, WakeUp Narcolepsy, Narcolepsy Network, What It Takes: Living with Narcolepsy Type 1) can provide resources and peer support that make patients feel less alone in their journey.

Ultimately, Morse reminds sleep clinicians, “We can never lose the person who’s in front of us because they don’t fit the science that we’re taught. The science that we were taught is constantly being updated.” As diagnostic and therapeutic tools evolve, the ability to communicate with empathy must evolve alongside them.

Reference

1. Heier MS, Evsiukova T, Vilming S, et al. CSF hypocretin-1 levels and clinical profiles in narcolepsy and idiopathic CNS hypersomnia in Norway. Sleep. 2007 Aug;30(8):969-73.