What is Dravet Syndrome?

Tuesday, July 8, 2014

I remember flipping through the channels a couple of years ago and seeing the CNN documentary with Sanjay Gupta about medical marijuana.  The little girl featured Charlotte suffered uncontrollable seizures every day rendering her unable to have a normal life .  I remember thinking what an awful way to have to live.  But it was just some family on t.v., so far from anything I could ever imagine happeing in my life.  

After Paloma started having seizures I read everything I could on the subject.  I think I sat in front of the computer for a month straight just reading everything from scientific journals to mommy forums trying to find a reason.  There are countless types of childhood epilepsy and seizures.  But nothing I read seemed to fit the description of what was happening with Paloma.   Until I first stumbled upon Dravet Syndrome and my heart sank. What I read was bad, the words catastrophic and needing life long care were used.  I didn't even mention the word to David for fear saying it out loud would make it real.  But as the seizures continued and resembled the description even more, I just knew.  

I won't pretend I even really know what it is yet.  It is a mutation on the sodium channels of the brain that allow it to dysfunction.  Seizures typically begin around six months in a previously healthy baby.  As in Paloma's case seizures are long and hard to stop.  Paloma's seizures have lasted up to about thirty minutes.  We have to give a rescue medication to make them stop every time.  Sometimes they won't stop and we have to call 911 so they can administer Ativan on top of the Valium we already gave.  There is no cure and seizures do not respond well to medicine.  Most Dravet children are on at least three different anti seizure meds.  Initially all test came back normal for Paloma which stumped her neurologist. Usually between ages two and four seizure types change and become more frequent and developmental delays start to appear.  There is a wide spectrum to Dravets severity. It may include regression or loss of developmentally attained skills. Children may be delayed or impaired in speech, exhibit autistic- like behaviors, or lose their ability to control movement (ataxia). Children may have also difficulty sleeping. Seizures are provoked by fever, heat, drastic temperature changes and light.  We have stayed inside most days this summer and the one time I tried to let her swim she immediately had a seizure.  In some respects I have to keep her in a bubble all the while balancing how to make life fun and normal for her and her sisters. 

This syndrome seems particularly cruel in many ways.  Not only do I have to worry about long seizures and her regressing but also her dying in her sleep which is another common concern for Dravet.  I gave birth naturally to this beautiful, healthy baby, little did I know what was going on inside her brain.  It's a Russian roulette in some ways, we have no idea which end of the spectrum she will be on.  Will she continue to develop normally and have seizures that are somewhat controllable that only slightly delay her development or the extreme will she have constant seizures that are unstoppable leaving her without the ability develop at all like little Charlotte?  We don't have an answer except for time. If you are interested here is the CNN documentary Weed featuring Charlotte who also has Dravet Syndrome.


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