Rare diseases are a diverse group of pathologies that have as their common denominator their low incidence: each one affects 5 or less out of every 10,000 people. Although the number of patients with each disease is low, together they represent a very large group. Many of these diseases are serious, chronic and disabling pathologies that very often go undiagnosed due to their complexity and ignorance of their existence. Once diagnosed, many patients do not have any treatment available or, if they do have one, it is not effective. Having efficient and safe treatments is an urgent goal of research on rare diseases.
Lafora disease is a rare neurodegenerative condition that most commonly starts as epileptic seizures in adolescence that progress rapidly with a severe neurodegeneration. The extent of the disease is devastating. Although the child is born with Lafora, the disease typically does not manifest itself until adolescence. Children grow up normally, with no perceivable problems until they begin to suffer with seizures. That is one of the cruelest things about Lafora. A normal, beautiful and apparently healthy child who has everything to live for is faced with nothing more than a “death sentence”. Therapy is primarily palliative and aimed at reducing seizures. From manifestation, which is normally the first seizure, a Lafora patient will die typically within 10 years. Currently, there is no cure for this devastating disease.
More information: https://chelseashope.org/
The researchers of Figthing the Rare
Meet the team of Figthing the Rare
This project was born from the collaboration between two brothers (Jaume and Jordi Duran) from completely different fields.
Jordi Duran: co-creator, screenwriter, interviewer and narrator voice.
Dr. Jordi Duran (www.drjordiduran.com) is a biomedical researcher that has devoted his investigations to the study of the brain and its alterations in conditions like Lafora disease. Over the past decade, Dr. Duran and team have helped resolve important issues in the pathology of the disease, paving the way for the design of future treatments.
Jaume Duran: co-creator, film director and screenwriter.
Dr. Jaume Duran is a film professor at the University of Barcelona and collaborates in others centers (ESCAC-UB, ENTI-UB, LS-URL, CITM-UPC). He has made several cinematographic publications and directed several audiovisual productions.
César Valdivia: cameraman, sound engineering and editor.
César Valdivia is a freelance video editor who has edited shows and documentaries for TV channels like Netflix, TV3, TVE, Al Jazeera and Bein Sports, as well as corporate videos and shortfilms for video production studios.
Figthing the Rare on the news
Dementia Alliance International https://dementiaallianceinternational.org/blog/childhood-dementia-fighting-the-rare-documentary-lafora-disease
Spotify podcast https://open.spotify.com/episode/4AiVWipcGreM64QcsVKg8Q
Rare Revolution Magazine https://x.com/RareRevolutionM/status/1709222156993794337?s=20
Epilepsy Foundation Los Angeles https://twitter.com/EpilepsyFdnLA/status/1673420959414382599?s=20
University of Florida https://biochem.med.ufl.edu/2023/06/28/fighting-the-rare/
Chelsea’s Hope https://chelseashope.org/fighting-the-rare-documentary/
Beacon for Rare Diseases https://www.instagram.com/p/CtPKzlPrxqj/?utm_source=ig_web_copy_link&igshid=MzRlODBiNWFlZA==