The title of this blog is "Dangerously Rare: Dravet's Syndrome," and rightfully so. I chose this title because Dravet's is so rare, very few people have it and even fewer know anything about it. This is dangerous because it is much harder to find a cure when fewer people are involved or affected.
There are only about 500 known cases of Dravet's Syndrome in the United States. Dravet's surfaces during a previously healthy child's first year. While emailing the director of the Special Children's School, Bill Donohue, he informed me that Dravet's is caused by a gene mutation that disrupts normal protein development in the sodium channels within the brain. This disruption causes a person to experience a wide range of seizures at varying frequencies--like the child at the Special Children's School (who experiences various seizure anywhere from 5-150 seizures a day).For the most part drugs are uneffective at treating Dravet's Syndrome, although, according to Donohue there is currently a cocktail combination of Stiripentol, Clobazam, and valproic acid being tried out.
Because of the frequency of seizures, Dravet's Syndrome has a serious, negative effect on development in cognition and the brain. Fine motor skills are greatly affected. The ability to speak is the greatest affected. Dravet's can also lead to mental retardation, etc. From the first surfacing of Dravet's Syndrome until the age of about 4 or 5 cognition and mental functions continue to deteriorate. After 5 years of age deterioration begins to slow and eventually becomes more stable, but there is little hope from improvement or mental regrowth. Also there is a strong connection between the amount of mental damage done and the frequency of seizures. The more seizure--the more damage.
Information from this post was retrieved from an article found on PubMed called "Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings." by M. Wolff, C. Case-Perrot, and C. Dravet at: