Epilepsy and Dravet Syndrome
Although many people have either experienced a seizure or know someone with a seizure disorder, many misconceptions exist about seizures and epilepsy.
A seizure is a brief, excessive surge of electricity in the brain. There are many different types of seizures. The type of seizure is determined by what part and how much of the brain is involved.
Epilepsy is a disorder in which a person has two or more seizures without a clear cause.
- Epilepsy is NOT contagious
- Epilepsy is NOT mental illness
- Epilepsy is NOT mental retardation
- TEN PERCENT of the American population will experience a seizure in their lifetime
- Approximately 200,000 new cases of seizures and epilepsy occur each year.
- MORE PEOPLE HAVE EPILEPSY THAN PARKINSON’S DISEASE, CEREBRAL PALSY, MULTIPLE SCLEROSIS AND MUSCULAR DYSTROPHY COMBINED!
To learn more about seizures and epilepsy, go to www.EpilepsyFoundation.org
Dravet Spectrum Disorders are a group of related epilepsies having a similar genetic cause. Dravet syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), represents the most severe form of Dravet Spectrum Disorder. Dravet syndrome was first described by French physician Dr. Charlotte Dravet in 1978. It is a rare disorder caused by a genetic mutation in a protein that regulates electrical activity in the brain. People with SMEI experience almost every type of seizure known. The first seizure usually occurs in an otherwise normal, healthy infant before one year of age and is usually associated with fever. Initially, generalized tonic-clonic seizures (“Grand Mal Seizures”) occur every few months and tend to turn into “status epilepticus” (a prolonged seizure that is very difficult to stop, even with medication). Other seizure types begin to appear during the toddler months and seizures become more frequent, sometimes occurring hundreds of times a day. Most Children with SMEI will experience a plateau or regression of developmental skills during the second year of life. Individuals with Dravet Syndrome have only an 85% chance of surviving to adulthood.
Due in a large part to the efforts of the Dravet.org (formerly known as IDEA League), more patients are diagnosed with Dravet Syndrome every day. Until recently only about 500 cases had been reported world-wide. However, it has been estimated that one person in 20,000 has SMEI. This means that 334,000 people in the world currently have Dravet Syndrome and one baby is born in the U.S. every other day who will have it.
The seizures associated with Dravet syndrome are very difficult to treat. Many of the anti-epileptic drugs used in the US are not effective for this disorder, and several of them can even make the seizures worse. In the European Union two medications, clobazam and stiripentol are used for the treatment of SMEI. People with rare, life-threatening diseases can import medications that are not approved by the FDA into the US on a compassionate use basis. However, most insurance companies will not cover the cost of these drugs, which can be very high. Thanks in part to the hard work of members of Dravet.org, the US FDA designated Stiripentol as an orphan drug for the treatment of Dravet syndrome. Due to the enormous cost of research, pharmaceutical companies are reluctant to study medications that will be used to treat only a small number of patients with a rare disease. The "orphan drug" program offers incentives to companies who want to study such drugs and apply for full approval in the US. Biocodex, the manufacturer of Stiripentol, has already indicated its willingness to work toward full US FDA approval of Stiripentol. Clobazam was approved by the FDA in October 2011 and is now available in the US under the brand-name Onfi.
We hope you enjoy the updates to Sarah's webpage.