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 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.
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) 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 with this rare condition.
In addition to telling Shelby's story, the purpose of this site is to raise awareness of Dravet. Medications for this condition are often ineffective, expensive, and cause difficult-to-manage side effects. We want better treatments - and hopefully one day - a cure. We appreciate so much your interest in and support of Shelby and others with Dravet Syndrome.