OUR DRAVET BUTTERFLY, VANESSA

Dravet Syndrome was discovered by a French Pediatric Neurologist, Dr Charlotte Dravet in 1978. An estimated 1 in 20,000 people have Dravet Syndrome. Many doctors dont know of this syndrome, so many cases probably go unrecognized.Dravet Syndrome is a very rare and catastrophic form of Epilepsy, which begins in infancy and will affect almost every aspect of a child's life.Seizures begin during the first year of life. The first seizures occur with fever and are generalised tonic clonic(grand mal) seizures. These seizures are often prolonged and difficult to control and require emergency treatment.Over months, seizures can occur without fever and other seizure types can develop, such as myoclonic jerks, complex partial and absence seizures. Sometimes the infants first seizure occurs after their first set of immunizations. The immunization can bring on a fever, which may cause the infant to have a febrile convulsion.Over time developmental delays, behavioural problems, orthopedic issues and ataxia develop. As children with Dravet Syndrome get older, their movement and walking may get worse and they may develop a crouch gait and walk with bent knees.Most children with Dravet Syndrome have a mutation, a change in a gene called SCN1A. This gene holds the DNA code to make a protein that helps to control the electrical activity in the brain cells. This protein is called the sodium ion channel alpha subunit. Although it is a genetic mutation, it is not always inherited from a parent. Most times, it will be a new mutation that occurs in the early stages of the embryo's development. Our daughter Vanessa is SCN1A positive, but neither of us carries this gene.Children with Dravet Syndrome are at an increased risk of accident, infection and sudden unexpected death. A person with Dravet has an 85% chance of surviving into adulthood. This disorder is very rare, little is known about it and research is ongoing.

Treatment for Dravet Syndrome is currently only with a particular group of anti-convulsants which help control the seizures. Howerever, many children do not respond to some of these medications and some types of seizures get worse. The control of seizures is very poor. The frequency of seizures may decline but people with Dravet Syndrome are at risk of having seizures for the rest of their life.