Sunday, December 2, 2007

A General Idea

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:


A Person affected by Dravet's Syndrome can experience any or all of the types of seizures:

During Tonic seizures the limbs and body of the person affected go completely stiff.

During Clonic seizures the limbs and facial muscles twitch and jerk.

Tonic Clonic--
Tonic Clonic seizures occur in two different phases. The first phase is the Tonic phase, in which the limbs of the body go stiff. A person experiencing this may stop breathing. The second phase is the Clonic phase and during this phase the limbs and facial muscles jerk. Breathing normally picks back up in this phase.

Myoclonic seizures are typically short in duration and involve quick tightening of various muscles in the body, usually occurring simultaneously on both sides of the body

As referred to as "drop attacks," Atonic seizures can be very dangerous to a person's body (especially the head and face) as these seizures cause a sudden loss of muscle control. They often lead to body collapse, etc. as the limbs turn rubbery or noodle-like.

Much like the name implies, Absence seizures are momentary losses of awareness and consciousness. A person undergoing an attack of this nature would have a vacant stare and appear as if they are daydreaming.

Complex Paritals--
During Complex Partials a person is unaware and unable to control their body, speech, etc. A person affected by this will not remember anything that happens during an episode.

Simple Partials--
Different from Complex Partials, during Simple Partials a person is fully aware of what is happening to them and occurring around them but cannot control his or her self.

The information from this post came from the Epilepsy Foundation at: