Newly Diagnosed: Taking the First Step on Your Journey

Dravet syndrome is a rare, severe type of epilepsy characterized by prolonged seizures that begin in the first year of life. It affects 1 in 20,000 to 40,000 people worldwide, and is a lifelong condition that can have serious implications on the quality of life of patients and their families. However, with regular care and supervision, most Dravet symptoms can be managed through adulthood.

Most Dravet syndrome cases are caused by mutations in the SCN1A gene. Hundreds of mutations in this gene have been identified that are linked to seizures caused by high fever. Scientists do not fully understand how the mutations in the SCN1A gene cause seizures, but one way could be by impairing the activity of a type of inhibitory neurons called GABA, resulting in the overactivation of the nervous system.

Dravet syndrome is characterized by frequent and treatment-resistant seizures, which can be triggered by warm weather, fevers, or sunlight. These seizures are usually long in duration (30 minutes or more) and highly resistant to many existing medications and treatments for epilepsy. Other symptoms may range from sleeping disorders and behavioral problems to a higher risk of infections.

It may take time to make an accurate diagnosis of Dravet syndrome because the symptoms progress in time and the initial diagnosis depends mainly on the patient’s medical history. An electroencephalogram and imaging scans can also be used to look at brain activity or damage. A genetic test can confirm if a gene mutation causing Dravet is present.

Dravet syndrome is a lifeling disorder that presents physical challenges such as seizures, problems eating and sleeping, as well as developmental delays that could affect schooling. Therefore, Dravet syndrome patients need constant care and supervision that extends throughout adulthood.