The fight against low or very low prevalence diseases needs unsung heroes and involved families. The Fatal Family Insomnia Siege is a good example. Joaquín Castilla, a prestigious researcher at the Basque research center CIC bioGUNE, exemplifies the selfless fight of many scientists against diseases as terrible as they are unknown. Miren Vitoria, a 27-year-old nurse, belongs to a family brutally shaken by this suffering. Their paths have crossed in the fight against this neurodegenerative disease, with a greater presence in the Basque Country, which is characterized by affecting the part of the brain that controls the sleep cycle.
Joaquín Castilla is not only one of the main researchers around this disease and other prion diseases, the family to which fatal familial insomnia belongs, but he is also the president of the foundation that brings together those affected and their relatives. He doesn’t really have any family connection to this hereditary disease, but he does have a very strong professional and emotional connection to it. In 2013, after having worked in Switzerland and the United States as a university professor and researcher, he got to know firsthand a devastating case: a 12-year-old girl affected by fatal familial insomnia and died as a result of this disease . A drama that would contribute to decant Castilla’s involvement with this disease. The most common, in any case, is that carrier patients develop it around the age of 50 or 55. The problems are triggered as a result of an abnormal production of prion proteins, defective proteins that become infectious agents. “Sleep control stops working properly because the neurons in the thalamus are dying. It is the most characteristic manifestation, although the range of symptoms is much wider”, he explains.
People who develop the disease suffer from other conditions typical of neurodegenerative diseases: cognitive impairment, motor problems, dementia… Although in this case there is also a characteristic of its own. “The speed with which it develops is striking. The deterioration is evident from week to week. From the first symptoms, patients live between 6 and 18 months”, points out Castilla.
The explanations of this researcher take on another aspect when Miren Vitoria explains the terrible experiences of his family. In the last 25 years, he has seen his grandfather, his great-uncle, his uncle and his aunt die because of this disease. At Christmas, the fatal family insomnia reappeared in his family: his mother had begun to develop the disease. “In October he ran the Valencia half marathon. He finished it, but realized it wasn’t up to his usual marks. He started going around, but didn’t tell us anything until a few months later. His situation has worsened a lot since then”, he explains.
The Foundation for Prionic Diseases calculates that in Spain, one of the most affected areas of the world, there are currently around 200 carriers who will develop the disease at some point in their lives. Castilla indicates that there are reasons for hope, beyond the fruits that can be brought by embryonic selection and the end of family transmission. Research centers in Spain, the United States or other European countries are working on promising therapies aimed at blocking the fulminant destruction caused by prions. It is the hope held by families who, generation after generation, have seen insomnia become their worst nightmare.
