Author, Niki Markou, lives in Sydney, Australia and is the mother of a 19 year old girl named Angelina who has Lafora disease. According to Alzheimer’s Disease International, as of 2020, it was estimated that around 700,000 children around the world were living with childhood dementia. There is, however, very little awareness about these rare cases which are caused by more than seventy different genetic conditions. In light of this, Niki serves on the board of Chelsea’s Hope Lafora Children Research Fund to help find a cure for her daughter and all the other children around the world affected by this condition.
Angelina was a perfectly healthy intelligent teen until 14 years old when she fell and had a seizure. She was misdiagnosed with Juvenile Myoclonic Epilepsy which is very common and it wasn’t until she was showing signs of cognitive decline, that the doctors suspected something was wrong. She was admitted into hospital for further testing where she got worse. They escalated genetic tests of degenerative epilepsy genes which took a few months and during that time they were trialing a lot of other medications to see if they could get control of the myoclonic seizures. It wasn't until we received the results and the diagnosis that we knew what we were dealing with.
Since then I have been working hard with the team at Chelsea’s Hope to build a community of researchers and therapeutics companies to create specialized treatments for Lafora. In this journey we were fortunate to collaborate with Dr. Jordi Duran and his brother Dr. Jaume Duran in creating a powerful documentary that tells our story.
Fighting the Rare documentary is a glimpse into research on Lafora disease through the testimonies of researchers, patients, and their relatives.
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 (dementia), 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.
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 Lafora disease researchers: 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); and Dr. Joan J. Guinovart (Biomedical Research Institute); in addition to other researchers such as Dr. Salvador Borrós and Dr. Cristina Fornaguera (Chemical Institute of Sarrià) and 2 family stories by Niki Markou, Jenifer Merriam and Mariah Merriam.
You can watch the trailer on YouTube. The full documentary was released on June 26, 2023 so please go to the Fighting the Rare website to watch it
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