As a result of a genetic mutation recently discovered, Elena's mind stopped at 10 months of life.
Elena's rare disease is Hanefeld syndrome, CDKL5 is the gene responsible for this disease which manifests itself as different syndromes (West, Lennox Gastaut, autism, pervasive developmental disorder, drug-resistant epilepsy with early onset, etc.), therefore very difficult to diagnose and, at the moment, impossible to cure. The world of rare diseases is, to most, unknown, you discover it when you are directly involved, but it is a world that potentially affects everyone.
Elena's disease is not hereditary, in the genetic complexity of a conception it happens that things do not always go perfectly and this can happen to all of us, to our children, to our grandchildren. Under the constant gaze of Elena who sometimes seems to mock us, we follow her daily life and retrace her story. Elena is a particular child with special needs, there are days of sleep, crying or laughing. Obviously, all this is unpredictable like frequent nocturnal epileptic seizures. Next to Elena, her mother Emanuela is not satisfied with the already onerous task of following her daughter but has decided to found an association in order to stimulate research to take the necessary steps to arrive at a cure. We then discover the world of research and researchers, the fascinating problem of the 'mouse' (the genetically modified guinea pig that is the necessary means to identify a cure); Bureaucratic delays and few resources are flanked by doctors/heroes who daily mediate with the patients' families, disillusioning without taking away hope.
Emanuela accompanies Elena to the swimming pool, to hippotherapy, in her past another son who is no longer there, perhaps killed by medical malpractice, increases her desire to fight. Through the association he promotes conferences, recruits testimonials, makes the association a national referent. He dreams of a cure for Elena, for the other children, for all of us. The documentary aims to be one more tool for spreading knowledge of CDKL5 in civil society, to raise awareness of this disease and in general of the problem of rare diseases and research, but it also wants to tell an extraordinary human experience.
This short documentary provides for a broader development. Elena's "everyday" life alternates with the points of view of the protagonists and experts, doctors and researchers, parents and therapists, who are also filmed in the workplace, in the field, where day after day they relate to the disease. A very "direct" approach of the camera to capture the moments of Elena's life without reconstructing them but telling them discreetly under her gaze often avoided by people.