Patient Worthy partner Chelsea’s Hope is a nonprofit organization dedicated to supporting families impacted by the deadly rare illness Lafora disease, as well as amplifying research. Recently, a documentary titled Fighting the Rare was released. This program documents the world of scientific research into this rare disease and also features interviews with the families of Niki Markou (Sydney, Australia) and Jenifer and Mariah Merriam (Arizona, USA) that have been impacted by Lafora disease.
About Lafora Disease
Lafora disease is a rare, delayed-onset genetic disorder which is characterized by myoclonus epilepsy and the appearance of abnormal inclusion bodies, or Lafora bodies, that appear in the cells of multiple organs and systems, including the skin, heart, muscles, and liver. The disease is inherited in an autosomal recessive pattern and is linked to loss of function mutations impacting one of two genes: EPM2A and NHLRC1. Symptoms usually appear during early adolescence and include learning disabilities, a wide variety of different seizure types, ataxia, drop attacks, hallucinations, vision problems, dementia, and depression. Lafora disease is progressive, with symptoms increasing and worsening over time. While medications can help control seizures, there is no cure or treatment that can inhibit or halt disease progression, and Lafora disease is regarded as a universally fatal disease. To learn more about Lafora disease, click here.
Research and Family Stories
Fighting the Rare follows the research related to this disease along with family stories and testimony to help explain important biological and medical concepts. The documentary gives insight into the importance of research and scientific process that medical researchers strive to follow.
The creators of Fighting the Rare, Dr. Jaume Duran, Dr. Jordi Duran, and César Valdivia, reached out to an international network of scientists that have been studying Lafora disease, including:
- Dr. Berge A. Minassian, University of Texas Southwestern Medical Center
- Dr. José María Serratosa, Institute for Health Research F. Jiménez Díaz
- Dr. Matthew S. Gentry, University of Florida
- Dr. Joan J. Guinovart, Biomedical Research Institute
- Dr. Salvador Borrós and Dr. Christina Fornaguera, Chemical Institute of Sarriá
You can watch the documentary here.