Shining a spotlight on Dravet’s Syndrome

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.

For more information
For more information on Dravet’s Syndrome here are some resources:
http://www.idea-league.org/home
http://www.ice-epilepsy.org/dravet-syndrome
http://www.dravetfoundation.org/

Jessica K. Smith Founder and CEO; Executive Director

Jessica Keenan Smith is a patient advocate and epilepsy community leader with more than 15 years of experience. As Founder and CEO of Living Well With Epilepsy and Executive Director of ASENT she bridges the gap between the scientific and patient communities, with a particular focus on the needs of the epilepsies. Jessica Keenan Smith is Founder and CEO of Living Well With Epilepsy, an award winning online resource for people affected by epilepsy to share stories and access in-depth information on the disease. Since 2009, Living Well With Epilepsy (https://livingwellwithepilepsy.com) has been featured in Forbes, Wired, NBC, NPR and the cover story of Epilepsy Advocate Magazine and has partnered with companies such as UCB, Lundbeck, Sunovion, Eisai, and more. Ms. Smith is also the Executive Director of the American Society for Experimental Neurotherapeutics (ASENT) (https://asent.org), an organization that brings together leaders from industry, academia, government and advocacy who are engaged in bringing drugs and devices to market across all neurologic disease states. In this role she is responsible for leading a successful scientific journal and annual scientific conference with speakers from all over the world.

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