Aiden's Journey

One Little Boy's Battle with Dravet Syndrome

What is Dravet Syndrome? 

Dravet Syndrome is a rare, severe form of epilepsy that results in frequent, often prolongued seizures, speech impairment, developmental delay, ataxia, and orthopedic problems.  It is thought to be caused by a mutation in the gene that codes for the sodium ion channels in our nerve cells.  Dravet Syndrome affects roughly 1 in 20,000 to 40,000 children, though there are likely many more undiagnosed cases.  Children usually have their first seizure (a generalized tonic clonic or "gran mal") in the first year of life, and it is often an episode of status epilepticus (lasting more than 30 minutes). 

After the first seizure, a few days or weeks pass by before another attack.  The seizures may be spaced by one to several months, but gradually become more frequent as the year progresses.  The seizures are extremely refractory to traditional anti-epileptic medications, and often require medical intervention to stop them.  The second year of life often shows a lack of language development, more frequent seizures, and varying types of seizures. 

Most children show some developmental delay in addition to speech between the ages of 2 and 3.  The seizures morph in length, type, complexity, and keep the parents questioning what to medicate and what to "let go."  Gait issues such as ankle pronation and foot turning can appear, and children become extremely sensitive to heat, excitement, movement, and occassionally light, all of which can be seizure triggers.  Medications that exacerbate seizures include Lamictal (Lamotrigine), Dilantin (Phenytoin), and Tegretol.

The prognosis for children diagnosed with Dravet Syndrome is unknown.  They will always battle seizures, and all known affected teenagers and adults are dependent on caregivers.  The mortality rate is 15-20%, most deaths ocurring during sleep due to likely SUDEP (Sudden Unexplained Death in Epilepsy). 

 It is hoped that an earlier diagnosis (thus avoiding incorrect medications), therapy interventions, and optimization of the medication cocktail will improve the outlook for children diagnosed with Dravet Syndrome today.  For more information, please visit:  http://www.idea-league.org/