Contributed by Dravet Foundation Spain

• The group values the progress made but urges the continued implementation of the effectiveness of the drugs
• Epilepsy unexpectedly and suddenly marks the onset of Dravet Syndrome for families and implies a risk of death in patients due to SUDEP
• It is important to combat stigma for families suffering from refractory epilepsies such as those of Dravet

Madrid, May 24, 2024.- On this May 24, World Epilepsy Day, the Dravet Syndrome Foundation called for promoting social awareness and promoting research into a disorder that affects 50 million people in the world and that manifests itself in a good number of rare neurological diseases, such as Dravet Syndrome.

Not surprisingly, “Epilepsy is the disorder that suddenly and unexpectedly marks the beginning of Dravet syndrome in families who, until then, were very excited about their future and that of their own child, an apparently healthy baby”, as stated by the president of the Dravet Syndrome Foundation, José Angel Aibar.

It is also a type of refractory epilepsy, resistant to the most common drugs, which means that these convulsive seizures are often inevitable and unpredictable, and that they frequently lead to situations of status epilepticus, when the seizures last more than 30 minutes, thus implying risks to the patient’s life and the probability of neurological sequelae.

This imminent danger to patients’ lives becomes more evident in epileptic seizures during different phases of sleep, a circumstance that requires constant monitoring and/or surveillance of patients, who often cannot even sleep alone. This constitutes the greatest risk of a tragic outcome due to sudden death due to epilepsy (SUDEP), with the mortality rate from Dravet being 15-20% before adulthood, in half of the cases due to SUDEP.

In this regard, it is necessary to appreciate the growing advances in research with new drugs recently incorporated into the market that generate new combinations that allow, in a good number of cases, to reduce the duration and frequency of crises. But we must continue to make progress in this direction.

“However, epilepsy is not the only thing that families living with Dravet syndrome have to face. Neither are the rest of the serious comorbidities associated with this disease,” says Aibar, which include cognitive delay, motor and speech problems, behavioral problems, sleep problems and autism spectrum problems.

“Families also have to face stigma, misunderstanding, loneliness and all the obstacles of the social and health system itself,” says Aibar. This also includes problems in the schooling of younger patients, given the need for centre staff to be able to react to a crisis situation. “That is why the work we carry out at the Dravet Syndrome Foundation and that of all the people and institutions that help us raise awareness about this rare disease and all its challenges and difficulties is so important,” concludes Aibar.