Getting on public transport and falling asleep almost inevitably. Having to return home in the middle of the day for a compulsory nap. Or losing muscle strength in the middle of a laugh to the point of collapsing to the ground. For years, these episodes were part of Magalí’s life without her knowing exactly what caused them.
Narcolepsy is a rare neurological disorder that affects the mechanisms regulating wakefulness and sleep. People living with the condition may experience excessive daytime sleepiness, sudden sleep episodes, disrupted nighttime sleep and cataplexy, a temporary loss of muscle tone often triggered by emotions such as laughter.
According to Dr Alex Iranzo, Head of the Sleep Unit at Hospital Clínic Barcelona, the disorder has a very specific biological basis: “Patients with narcolepsy do not produce hypocretin, a protein that helps keep us awake and maintain wakefulness. This deficiency causes them to fall asleep during the day unintentionally, experience episodes of cataplexy and have fragmented sleep at night.”
A social media post that changed everything
As is often the case with rare or little-known diseases, Magalí lived with the symptoms for some time before learning that they had a medical explanation.
“A video appeared on social media showing a girl experiencing exactly the same thing as me. I thought, ‘Is this actually a diagnosed condition?’ So I went to the hospital, and they told me that yes, I had narcolepsy.”
That moment marked the beginning of her diagnostic journey. Clinical suspicion is based mainly on the patient’s symptom history and is complemented by specific sleep studies and, in some cases, a lumbar puncture to determine hypocretin levels. Less invasive techniques, such as electrophysiological tests, can also be used.
“The diagnosis is made by talking with the patient and assessing whether they experience these sleep attacks, cataplexy and disturbances in nighttime sleep,” explains Dr Iranzo. “We can also carry out an overnight sleep study and daytime tests to evaluate the patient’s tendency to fall asleep and whether they enter REM sleep, which is characteristic of narcolepsy.”
Beyond tiredness
Narcolepsy is much more than simply feeling sleepy. In many cases, it directly affects everyday activities that most people carry out without a second thought.
For Magalí, the constant need to sleep dictated the organisation of her entire day. “I couldn’t work and study, or go to a medical appointment and then return to work. I had to go home to sleep. The fact that I couldn’t spend a whole day away from home conditioned everything.”
Studying was also difficult. “I couldn’t get through six or eight hours of classes without having to sleep. If I needed to stay and study in the afternoon, I couldn’t do that either.” Even routine activities such as driving required careful planning. “I have a driving licence, but I couldn’t do long journeys or drive at certain times of the day.”
Adding to these limitations was the lack of understanding from people around her. “There’s something people don’t understand. They ask: ‘Can’t you just fight off the sleepiness when it comes?’ No, I can’t. Or: ‘Can’t you stay standing when you laugh?’ No, I can’t.”
A treatment that targets the biological cause
For decades, narcolepsy treatment has focused on managing symptoms individually: medication to reduce sleepiness, drugs to improve nighttime sleep or therapies aimed at reducing episodes of cataplexy.
Now, however, the results of a recently presented new drug point towards a paradigm shift. As previously reported by Hospital Clínic Barcelona, this treatment works by reproducing the function of hypocretin, the substance missing in people with narcolepsy.
“This is not a symptomatic treatment like the previous ones,” explains Dr Iranzo. “What we do is provide a molecule that performs the same function as hypocretin. In pharmacology, we call it an agonist. We are replacing what the patient lacks.”
The key difference is that this approach addresses the full range of symptoms. “It greatly improves all the symptoms of narcolepsy. Patients no longer experience sleep attacks, episodes of cataplexy decrease and they sleep better at night.”
“Now I’m awake and have energy all day”
Magalí is one of the patients who has experienced this change firsthand. “The treatment has changed my life enormously,” she says. “Simply being awake, productive and having energy throughout the day is incredibly important. You do much more at home, and you feel more motivated to go out and be active.”
The difference is also noticeable at work. Before, when sleepiness was constant, she says she functioned almost on autopilot. “When the sleepiness hit, I went into a kind of inertia. I did things automatically and then had to review them afterwards.”
For Dr Iranzo, this is precisely the greatest value of the treatment. “Patients move from having a life shaped by narcolepsy to living an almost normal life. They can go to the cinema and watch a whole film, go out for dinner without falling asleep between courses, or laugh with friends without worrying about collapsing.”
A paradigm shift with an eye on the future
The results obtained so far have generated excitement within the scientific community because, for the first time, the treatment targets not only the effects of the disease but also the mechanism that causes them.
“It is a complete paradigm shift,” says Dr Iranzo. “It is comparable to when people with diabetes were first treated with insulin. We are providing what is missing and treating the biology of the disease.”
Even so, the specialist stresses that its long-term evolution will need to be monitored over the coming years. “The published results are spectacular and these drugs appear very promising, but clinical practice will ultimately tell us what their true long-term impact is.”
For Magalí, however, the change is already a tangible reality. It is also proof that research can transform the lives of people living with little-known diseases. “Finding a medication that works so well and improves all the symptoms of the disease says a lot about how medicine is advancing,” she concludes. “It’s very encouraging to see solutions being developed for diseases that are often overlooked or not widely known.”
