My name is Heloisa Vieira Casatti, and I am from the city of Araçatuba (São Paulo State), Brazil.
I am 29 years old, and when I turned one year old, I began having generalized tonic–clonic seizures that were not adequately controlled by the medications I was taking. At that time, I was initially classified as having idiopathic or cryptogenic epilepsy. Later, we discovered that I have a genetic mutation caused by the deletion of two exons of the SCN1A gene (which encodes the NaV1 sodium channel). In other words, I have genetic epilepsy with febrile seizures plus (GEFS+).
I developed cognitive deficits due to the seizures I experienced during childhood, and my short-term memory is moderately affected. In addition, I suffer from frequent headaches (up to 15 episodes per month). I also cannot be exposed to environments with temperatures higher than body temperature or perform physical activities that raise my body temperature, as these conditions trigger seizures. Similarly, whenever I have a viral or bacterial infection or even receive vaccines, my parents must begin a protocol alternating different antipyretic medications until the fever subsides; even so, some seizures are unavoidable.
I live in a tropical country and therefore face the limitations of needing to stay in air-conditioned environments, including air-conditioned cars.
In 2016, I began experiencing visual snow symptoms, along with more frequent headaches without aura, dizziness, tremors, changes in hand muscle strength, severe photophobia, sound sensitivity, anxiety attacks, and almost daily functional episodes, as well as visual halos and palinopsia. Among these symptoms, I experience visual snow, dizziness, and photophobia every day, while tremors and muscle-strength fluctuations and other alterations occur weekly.
I have been taking sodium valproate daily since I was one year old, in addition to other anticonvulsants that were used and later discontinued. For the past two years, I have also been taking desvenlafaxine succinate, which has improved my headaches and anxiety. I use polarized glasses outdoors, which help control photophobia. I cannot be exposed to environments with intense or flashing lights, loud sounds, or temperatures above body temperature. My parents support me every day. I work from home making necklaces, bracelets, and earrings using natural stones (Instagram: @byhelo.acessoriosempedras), because I am unable to work in a traditional job due to my health conditions.
