Our last post provided you with information on a project called Joey’s Song. The project was created after Joey Gomoll succumbed to Dravet (pronounced Dra-vay) syndrome. This rare form of epilepsy robbed Joey of most of the ability to speak, but it didn’t stop him from communicating with everyone he met – and it never prevented him from laughing, smiling, singing or dancing. Since Dravet syndrome is so rare we felt it was important to dedicate a post to raising awareness on this devastating form of epilepsy.
What is it?
Dravet syndrome is sometimes referred to as severe myoclonic epilepsy of infancy (SMEI). It appears during the first year of life with frequent febrile seizures – fever-related seizures that, by definition, are rare beyond age 5. Children with Dravet syndrome typically experience poor development of language and motor skills, hyperactivity, and difficulty relating to others.
What can you do?
Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, can also help. For more on the Ketogenic Diet and how it is being applied read the story from the New York Times called Epilepsy’s Big Fat Miracle.
What can happen?
As children with Dravet syndrome get older, their decline in cognitive function stabilizes, and in many, it improves slightly. However, most teenagers with Dravet syndrome are dependent on caregivers.
What research is being done?
Study of the genetics associated with Dravet Syndrome and related disorders is being conducted through NINDS and is expected to lead to the development of effective therapies.