In November 2019, little Elena and her family participated in our studio recording for the Not So Rare campaign. Elena and her parents were so committed to our cause that they didn’t hesitate to make the return trip between Quebec City and Montreal, more than 4 hours away, to participate in our video shoot. Almost a year later, on November 21, 2020, at 8:15 a.m., Elena took her last breath. We write this article to pay tribute to this courageous family and to raise awareness of the reality of ultra-rare diseases. Alone in the world with her illness Some diseases may affect only a few dozen people in the world. They are said to be “ultra rare”. This is precisely the case with Elena’s disease, a genetic neurodegenerative disease linked to the AGTPBP1 gene. The disease, which does not yet have a name, was discovered in Germany in June 2019, just a few months before Elena’s diagnosis. The little girl was the only registered patient in the world. When a disease is so rare, there are extremely few dedicated resources, and other