AASM Membership Sections Newsletter Issue #3
Narcolepsy Section
Louis A. Tartaglia, MD
Stephen LoVerme, MD
Eve R. Rogers, MD
Sam Dzodzomenyo, MD
How Long Does it Take for a Severely Affected Narcoleptic to Obtain an Accurate
Diagnosis and Management?
Eve R. Rogers, MD, FAASM
In the current era of increased
awareness of the nature of nar-
colepsy, one expects that the
average time to diagnosis for
someone with fairly typical symp-
toms of narcolepsy should be
increasingly shorter and unen-
cumbered. Clearly, the quality of
life of someone with narcolepsy
is significantly improved with
accurate diagnosis and careful
management. Unfortunately, as
the recent case below illustrates,
the road to diagnosis may still be
prolonged and filled with divert-
ing misdiagnoses.
A 23-year-old woman, previ-
ously diagnosed with OSA, was
referred by her psychiatrist to a
board certified sleep specialist in
an AASM-accredited sleep center
for a second opinion regarding
persistent sleepiness and “to get
her CPAP to work.” She had seen
multiple specialists over a two-
year period, was now on multiple
psychoactive medications, and
remained severely dysfunctional.
She had begun application for
long-term disability despite
ongoing psychiatric treatment for
depression, visual hallucinations,
and “syncopal” episodes.
Prior to her referral for expert
sleep evaluation, she had un-
dergone an apnea evaluation at
a non-accredited sleep lab. She
was diagnosed with OSA (fur-
ther details unknown and never
successfully obtained) and started
on CPAP therapy. Despite her re-
quest for help, follow-up care was
not offered. Instead, she was ad-
vised that nothing more could be
done for her and that she should
continue to use her CPAP.
During her somnology consul-
tation “to get her CPAP to work,”
a meticulous history revealed
severe, persistent daytime hyper-
somnolence and probable cata-
plectic episodes with no signifi-
cant past medical history. Physical
exam was unremarkable; and
routine laboratory and imaging
studies were normal, including a
negative urine drug screen. Before
any further sleep studies were
performed, many of her medica-
tions were cautiously tapered and
her sleep hygiene was maximized.
Surprisingly, an overnight poly-
somnogram revealed no evidence
for sleep disordered breathing.
MSLT the following day re-
sulted in a mean sleep latency of
less than two minutes and 4/4
SOREMPs. The final diagnosis
of narcolepsy with cataplexy was
made. Modafinil, subsequently
combined with sodium oxybate,
resulted in significant improve-
ment of her daytime sleepiness
and cataplexy. She continues to
experience several psychological
and family stressors and benefits
from ongoing follow-up visits,
which have now been stretched
out to intervals of six months.
While this woman’s narco-
leptic presentation seems fairly
straightforward to those with
adequate training and experience
in sleep medicine, her course to
reach an accurate diagnosis and
adequate medical management
was prolonged. Several lessons
may be taken from this case
history. Narcolepsy is a complex
disease and typically involves
much more than just the sleep-
wake cycle, as is the case with
many sleep disorders. While the
field of sleep medicine has made