June 23rd marks International Dravet Syndrome Day, a date aimed at raising awareness and sensitizing the population about this rare disease that affects one in every 20,000 newborns and is characterized by strong epileptic seizures of genetic origin.
Dravet Syndrome is a pharmacoresistant condition that requires specialized management and often has a significant impact on the quality of life of patients and their families. To emphasize the importance of this condition, the windmills in our town of Herencia will be illuminated in purple in commemoration of this day.
This date was established in 2014 by the Dravet Syndrome Foundation in conjunction with international organizations linked to this syndrome, with the aim of making its impact visible and promoting research and development of treatments.
Dravet Syndrome is a severe epileptic encephalopathy, also known as Severe Myoclonic Epilepsy of Infancy (SMEI). It was first described in 1978 by psychiatrist and epileptologist Charlotte Dravet.
25% of patients have a family history of epilepsy or seizures, resulting from febrile processes. The disease is mainly caused by a mutation of the SCN1 gene, located on chromosome 2, which can occur spontaneously. In 15% of cases, Dravet Syndrome can be fatal, due to Sudden Unexpected Death in Epilepsy (SUDEP), prolonged seizures, drowning, and infections.
The symptoms of Dravet Syndrome are varied and include cognitive delay, significant motor impairments, mobility and balance difficulties, uncontrollable epileptic seizures, prolonged and frequent seizures, and behavioral disorders, including within the autism spectrum.
The diagnosis of Dravet Syndrome is made through genetic testing by a specialist doctor. Although there is currently no cure for this genetic disease, there are pharmacological treatments that aim to control symptoms, mainly epileptic seizures. These medications include valproate and benzodiazepines.
On this International Dravet Syndrome Day, Herencia dresses in purple to send a message of support and solidarity to all people living with this disease and their families.
Spanish post in Herencia conmemora el Día Internacional del Síndrome de Dravet
