The patient journey | Dravet syndrome

FIECON Patient Perspectives

José Ángel Aibar became involved in the activities of the Dravet Syndrome Foundation, shortly after one of his sons was diagnosed with Dravet syndrome. He has served as President and CEO since June 2018.

José is also a member of several rare disease and epilepsy working groups, such as Epag EpiCARE and the Eurordis Digital and Data Advisory Group, as well as a member of the advisory committee of several international projects. and from the industry.

The Dravet Foundation was started with the aim of promoting, encouraging and connecting the world's leading research centers on Dravet syndrome and other related diseases. The aim is find a drug within three years that eliminates the symptoms and allows us to preserve the cognitive state of patients until a definitive solution for the disease is found.

In this podcast, Jamshaed Siddiqui, Manager at FIECON, talks to José Ángel Aibar about the patient journey and his experiences as both a parent of a child with Dravet syndrome and as a patient advocacy leader.

Dravet syndrome is a rare and catastrophic form of intractable epilepsy that begins in the first year of life, with an estimated incidence of 1 in 22,000 births.
Dravet syndrome is characterised by frequent, prolonged seizures that can be triggered by high body temperature (hyperthermia) and periods of illness. As well as seizures, common symptoms include mobility, behavioural, and cognitive abnormalities that develop as the child gets older.
There is no cure for Dravet syndrome. Early diagnosis and treatment may minimise seizure frequency and intensity, but few patients achieve seizure freedom. Without treatment, individuals will continue to have frequent seizures and can suffer from seizure-related accidents and increased risk of mortality.
As a rare disease, Dravet syndrome can be challenging for doctors to detect, and diagnosis is typically supported by genetic testing in children who are suspected of having, or at risk for, the condition but may also be diagnosed based on symptoms.