Good news for us would be a cure for Dravet. This site is about Shelby - and every other person suffering with Dravet Syndrome, a rare seizure-disorder - also called Severe Myoclonic Epilepsy of Infancy (SMEI). Shelby has been battling this disorder since she was four months old. Due to her illness, she struggles to learn and even to walk. There is no cure for Dravet syndrome and Shelby will never out-grow her seizures. We are the feet for Shelby and we want to do our part to bring good news to her and all patients like her.
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 Dravet 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.
The seizures associated with Dravet syndrome are very difficult to treat. Many of the anti-epileptic drugs used in the U.S. are not effective for this disorder, and several of them can even make the seizures worse. The European Union has recently approved two medications, Clobazam and Stiripentol, for the treatment of SMEI. People with rare, life-threatening diseases can import medications that are not approved by the FDA into the U.S. on a compassionate use basis. However, most insurance companies will not cover the cost of these drugs, which can be very high.
Due largely in part to the efforts of Dravet.org, more patients are being diagnosed with Dravet syndrome every day and at an earlier age. (Shelby was eight when she finally received an official diagnosis) Until recently only about 500 cases had been reported world-wide. However, it has been estimated that one peron 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 with this rare condition.
Dravet.org is an international partnership of parents and professionals united in the purpose of creating greater awareness and understanding of Dravet syndrome. The group was originally founded by parents in October 2005 as the IDEA League (International Dravet syndrome and Epilepsy Action League). Its mission is to promote awaresness about and research for Dravet syndrome and related genetic, febrile sodium channel epilepsies and to provide resources and support to improve quality of life for affected individuals and their families. It is the only organization dedicated specifically to this invaluable purpose.
In addition to telling Shelby's story, the purpose of this site is to raise money to fund research specific to Dravet. Shelby's medications are often ineffective, expensive, and cause difficult-to-manage side effects. We want better treatments - and hopefully one day - a cure. Dravet.org has agreed to manage a research fund in Shelby's name. Once that fund reaches $30,000, it will be awarded to the most promising scientists studying Dravet Syndrome. Any money donated on this site will go directly to that fund, as will all proceeds from all purchased items. You can also donate at http://www.dravet.org/ under Family Funds of Hope. We appreciate so much your support of Shelby and research to find a cure for Dravet Syndrome.