Beads of Hope.net
Raising Money and Awareness for the research of Dravet Syndrome.
About Dravet syndrome
Dravet Syndrome, also known as Severe Myoclonic Epilepsy of Infancy (SMEI), is a rare progressive childhood neurodevelopmental disorder characterized by severe epilepsy that does not respond to treatment.
Symptoms begin in the first year of life. Development is normal prior to the onset of seizures. In most cases the first seizures are correlated with fever and are generalized or unilateral tonic-clonic seizures. These seizures are often prolonged and may lead to statuse epileptics. In time seizure types, severity and frequency increase.
During the second year of life, progressive regression of aquired skills and developmental delays are usually observed and additional neurological symptoms may appear such as ataxia, poor regulation of body temperature and fine as well as gross motor delays. For a significant number of these children secondary problems can also include sleep disturbance, slowed physical growth, movement disorders, and orthopedic disorders
Identifying the causes of Dravet Syndrome presents complex research problems. One known cause is mutations of the SCN1A gene on chromosome 2. The SCN1A gene contains instructions for the synthesis of proteins that regulate the function of sodium ion channels in nuron cells which is important for the maintenance of the healthy rhythm of electrical activity in the brain. When they do not function properly, imbalances occur, causing hyper-excitability of the neuron cells and lowering the seizure threshold.
Currently, the treatments available for Dravet Syndrome are only to improve symptoms, primarily anticonvulsant medications to control seizures. The seizures are very resistant to therapy. Other treatments such as orthotics, physical therapy, occupational therapy, and communication therapy are reccommended.
Outcomes are variable. Partial and myoclonic seizures may attenuate, convulsive seizures persist. Communication, motor, and cognitive function stagnate, significant delays remain. Because our kids are at increased risk for accidents, infection, status epilepticus, and sudden unexpected death, they only have an 82% chance of surviving into adulthood. Because this disorder is rare and has relatively recently been identified as a distinct syndrome, little is known about long-term prognosis and life expectancy.
About the IDEA League
The International Dravet syndrome Epilepsy Action League (IDEA League) is an international partnership of parents and professionals united in the purpose of creating greater awareness and understanding of Dravet syndrome. The League was founded by us parents in October, 2005. It’s mission is to promote awareness 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 families. It is the only organization dedicated specifically to this invaluable purpose. We are proud to be a part of this organization!
