Following a diagnosis of a rare and degenerative disease, a Brazilian influencer mobilizes a race against time and gains access to an experimental treatment for the illness that has not yet been tested in humans.
Lito Sousa, 59, is a Brazilian mechanic and aviation pilot who built an audience of millions on the YouTube channel “Aviões e Músicas” (Airplanes and Music), where he explains how aircraft function and helps passengers understand turbulence, technical failures, and other aspects of aviation. In July 2026, he revealed to his followers that he had been diagnosed with prostate cancer. Shortly after, however, his condition took on a new dimension. After experiencing numbness in his left arm and loss of fine motor skills, Sousa was hospitalized to investigate an inflammation in his central nervous system. The symptoms led doctors to perform new tests, which ultimately revealed a rare and rapidly progressing illness: Creutzfeldt-Jakob disease (CJD).
What is Creutzfeldt-Jakob disease
On August 21, his wife, businesswoman Mila Seidl, confirmed on social media that tests had revealed Creutzfeldt-Jakob disease (CJD). The condition is a rare, rapidly progressing, and fatal neurodegenerative illness caused by misfolded proteins called prions. The disease has an estimated incidence of one to two cases per million inhabitants per year. There is no cure or approved treatment capable of halting its progression. In about 85% of cases, the disease emerges sporadically, without it being possible to identify a specific cause. In Sousa’s case, doctors pointed precisely to this sporadic form of the illness. According to family reports, there was no family history or identifiable exposure that could explain the onset of the condition.
How the disease manifests in Lito’s case
In Sousa’s case, doctors point to this sporadic origin, with no family history or identifiable exposure. According to accounts from relatives, he has been progressively losing control over his own body, beginning with numbness in his arm and the loss of fine motor skills, followed by a broader motor impairment, including partial vision loss. Even so, Lito remains lucid and with his cognitive capacity preserved, a trait that his wife highlighted as rare given the speed at which his motor condition has advanced. He was discharged from the hospital in São Paulo to continue with home palliative care, the standard protocol for a disease that current medicine cannot reverse or halt. Even facing this situation, Sousa has maintained direct contact with his followers. In a video published on September 4, 2026, before the arrival of the experimental drug, he summarized the shift in his perspective: “That day I had a 0% chance of escaping this disease, and now I have 0.1%.”
Why the race for the experimental treatment matters
Faced with the rapid progression of the disease and the absence of therapeutic alternatives, the family decided to seek a possibility outside the conventional medical workflow. The search led to ALN-6457, an experimental medication developed by Regeneron in partnership with Alnylam Pharmaceuticals. The substance utilizes a technology known as RNA interference, or RNAi, with the goal of reducing the production of the prion protein in the body. The researchers’ hypothesis is that reducing this protein could hinder the formation and propagation of abnormal prion shapes and, consequently, slow the progression of the disease. The problem is that the treatment had not yet been tested in formal human clinical trials for Creutzfeldt-Jakob disease. Lito therefore became the first patient to receive the medication for this indication.
The request for access came from the Albert Einstein Israelite Hospital, after the case was accepted into the pharmaceutical company’s compassionate use program. Mila described the process as a fight conducted “through our own means,” involving direct contact with the company and a sequence of authorizations necessary for the medication to reach Brazil. On September 4, the National Health Surveillance Agency (Anvisa) authorized, on an exceptional basis, the importation and use of ALN-6457 for Lito’s case.
The authorization, however, does not mean the medication has been approved as a treatment for the disease. It applies specifically to the patient and does not represent a guarantee of safety or efficacy for other cases. From that moment on, a new race began: getting the medication to Brazil and administering it before the disease progressed even further.
The medication left New York and arrived at the São Paulo International Airport in Guarulhos on the night of September 11. Because the product has a limited window for utilization after preparation, logistics were organized to reduce the time between the cargo’s arrival and its delivery to the hospital. The Federal Revenue Service and Anvisa had prepared to expedite the clearance process, and the medication left the airport shortly after landing, heading by helicopter directly to the Albert Einstein Israelite Hospital. While the family awaited the cargo’s arrival, Lito’s health condition continued to require attention. According to Mila, he had to return to the ICU following a general worsening of his condition.
After weeks of mobilization, authorizations, and a race-against-the-clock logistical operation, the goal was finally achieved: the medication reached the hospital and Lito gained access to the experimental treatment.
After the race, the wait for results begins
The race, however, did not end with the arrival of the medication. On September 15, Mila reported that Lito had already received ALN-6457 and was stable, with no complications related to its administration. Now, the treatment enters a new phase. Doctors and family members will have to monitor the progression of his condition to try and identify if there has been any response to the intervention.
It is not yet possible to say that the medication will work. According to the family, evaluating the potential effects should take a few weeks, with clinical monitoring and tests to compare the patient’s progress. Anvisa reinforces that the authorization granted is individual and does not represent an approval of ALN-6457 for Creutzfeldt-Jakob disease. There is also no guarantee that the strategy used in Lito’s case will produce the same outcome in other patients.
It is precisely this uncertainty that makes the story go beyond Lito Sousa’s personal journey. The case exposes, in real time, the dilemma faced by families confronted with rare, severe, and untreatable diseases: trying to access an experimental therapy before there is sufficient evidence regarding its efficacy, when the time available for the patient is limited.
In Lito’s case, the first race ended with the arrival and administration of the medication. Now begins a second stage: discovering whether the therapy will be capable of producing any effect on a disease that, to this day, medicine has not found a way to stop from progressing. For the family, the coming weeks will be a time of waiting. For science, the case represents an opportunity to observe, for the first time in a patient with CJD, what can happen when this strategy is taken from preclinical research into a real-world situation.
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The article above was edited by Ana Julia Galhardo.
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