Dravet's Syndrome-SMEI
Bryant Lee Weasel is a handsome 5-year old boy troubled by a genetic mutation which causes Dravet's Sydrome- SMEI. Dravet Syndrome is an unfortunate clinical and genetic diagnosis of a malignant and catatstrophic epileptic syndrome. This rare genetic syndrome is due to a gene mutation that interferes with protein development in the sodium channels in the brain. The faulty sodium channel causes febrile and nonfebrile seizures (mostly life-threatening status epilepticus) in previously healthy infants. Bryant's genetic mutation is de novo and suggests he will present with the most severe spectrum of this disorder. There are less than 500 reports of this syndrome reported in the literature; howevere, since the genetic test became commercially available four years ago they are learning more about the scope and spectrum of the epileptic syndrome.
Dravet Syndrome is characterized by a constellation of seizures presenting during the first year of life and including frequent life-threatening status epilepticus. The syndrome is progressive and debilitating. Prognosis for Dravet Syndrome is develeopmental delay or mental retardation, and fifty persent of the children born have an IQ of less than 50 by school age although all the children are born as typically developing. Siezures, inflammation, changes in neurochemicals with in the cerebellum, and brian damage from prolonged seizures at the cellular level are all probable explanations for the cognitive deterioration these children expereince over time. Aggressive intervention at the onset of convulsive seizures can improve the outcome in theses children. Global therapies and enriched environments also improve the outcomes. Mortality is high due to Sudden Unexpected Death, accidents and injury. SUDEP often occures in sleep and could be a result of an unrecognized prolonged seizure. Fatal accidents and injury occur often due to the lack of the childs ablility to develop appropriate fear due to their cognitive deficits. In addition, ataxia and atonic seizures increase accident potential.
The treatment for this malignant epilepsy has been disappointing. Fortunatley, Bryant was diagnosed at age 2 and we were able to streamline his medication regimen. We are also able to avoid triggers such as heat, excessive stress, excitement, and illnesses when possible. The International Dravet Syndrome Epilepsy Action League (IDEA League- www.idealeague.org) is a support group for parents and information for healthcare providers caring for children with this syndrome have been an instrumental resource for our family.
Bryant's seizure control was very poor during the first 2 years of his life. His longest seizure was 2 hours and 45 minutes. His current medication regimen is Felbatol, Clobazam, Topamax, IVIG, and diastat. This complex regimen requires frequent blood monitoring. for liver function abnormalities, platelet dysfunction, aplastic anemia, and hyperammonia. Clobazam is imported for Bryant from France and is NON FDA approved. Our insurance will not cover the cost associated with this medication.
The following information about Dravet Syndrome was obtained from Dr. Linda Laux. She is a pediatric epileptologist at Children's Memorial Hospitial in Chicago IL. She is Bryant's true hero and diagnosed Bryant correctly in 45 minutes after meeting her. Dr. Laux currently treats 48 patients with Dravet Syndrome that are seen at Children's Memorial Hospitial in Chicago IL. Her practice focuses on the treatment of intractable epilepsies. We have utilized our time, resources, and energy to ensure that Bryant has the best possible outcomes possible. We have sacrificed sleep, careers, and much more for the past 5 years. keeping Bryant out of the hospitial and the ICU, maintaining a good quality of life, and avoiding future medical costs associated with disabling outcomes from brain injuring seizures is our goal.
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