Seizures: The first seizure occurs during the first year of life. Febrile seizures, or seizures that come after a hot bath or fever from illness, are a signature symptom for patients with Dravet.
Developmental delay: After seizures begin, developmental slowing, stagnation, regression, and some degree of intellectual disability typically occur. Prior to the onset of seizures, patients with Dravet develop typically.
A diagnosis of Dravet syndrome is made based on symptoms but can be reaffirmed through genetic testing that identifies a mutation in the SCN1A gene. Symptoms required for diagnosis include normal development prior to seizures, two or more seizures before age one year, two or more seizures lasting longer than 10 minutes, and failure to respond to anti-epileptic medication.
Currently there is no cure for Dravet syndrome. Patients are treated for their symptoms, not for the underlying cause of the disease. Seizure control is the primary goal for Dravet patients. There are currently companies investigating treatments for Dravet syndrome including possible gene therapies.
The average person with a rare disease sees 7.3 specialists over a span of 5-7 years before receiving an accurate diagnosis. AmbitCare Ambassadors provide free services including listening to understand your challenges, guiding you on potential next steps, and recommending resources.