Fighting the Rare Documentary

Why Lafora disease?

Lafora Disease is a rare neurodegenerative condition affecting children. It is terminal; there is no cure. Healthy children first show symptoms in their early teens, epilepsy followed by cognitive decline, and typically die within 10 years. Lafora disease is ultra-rare, with around only 80 registered children affected in the world and a suspected 200-300 patients worldwide.

Research on Lafora Disease is an example of how a disease can be studied, from its discovery to obtaining the first treatments. In Fighting the Rare, using family stories and the study of Lafora as a backbone, general concepts related to biology and medicine, diseases, the scientific process, and the importance of research are explained. It is a must-watch for the rare disease and health community.

Who is in the documentary?

The documentary was created by Dr. Jordi Duran, Dr. Jaume Duran, and César Valdivia, who collaborated with a worldwide network of people fighting Lafora disease, including these researchers: Dr. Berge A. Minassian (the University of Texas Southwestern Medical Center); Dr. José María Serratosa (Institute for Health Research F. Jiménez Díaz); Dr. Matthew S. Gentry (University of Florida); and Dr. Joan J. Guinovart (Biomedical Research Institute); Dr. Salvador Borrós and Dr. Cristina Fornaguera (Chemical Institute of Sarrià). They interviewed two families telling their stories: Niki Markou from Sydney, Australia; Jenifer and Mariah Merriam from Arizona, USA.