Project Description

Elliot’s Story

Elliot was a full-term, healthy infant, born without any complications. Elliot’s first tonic-clonic seizure was at 6 months of age, accompanied by a slight fever, and lasted 1 hour and 40 minutes. After all testing came back negative and he showed no residual effects, this event was deemed a febrile seizure and we were sent home. After his second t/c seizure, approximately 6-8 weeks later, he was placed on Phenobarbital. All of his seizure events required emergency intervention and averaged 20-40 minutes in length. After one of his early events, he suffered from Todd’s paralysis (a temporary paralysis), which the ER doctor on duty had never seen before. Elliot was transported to Children’s Memorial Hospital in Chicago, with the fear that he had experienced a stroke. Elliot went through several days of testing and at that point was deemed to have a cortical dysplasia. We were assigned to a neurologist who specialized in cortical dysplasia and would help us explore the surgery options available.

A follow-up MRI confirmed that the area on his original scan thought to be a cortical dysplasia was actually residual swelling at the point of origin of one of his prolonged seizures. Elliot continued to have prolonged tonic-clonic seizures and at 18 months, he began having dozens, then hundreds, of myoclonics daily. We tried a variety of AEDs, including depakote, keppra and tegretol (the latter two which are contraindicated for Dravet syndrome and only aggravated his condition). At a neurology roundtable, our doctor discussed Elliot’s case and a fellow neurologist, Dr. Linda Laux, suggested Dravet syndrome. We were then referred to Dr. Laux, who made the clinical diagnosis of Dravet syndrome when Elliot was approximately 3.5 years old.

From age 6 months to age 4, Elliot averaged 4-8 status tonic-clonic seizure events per month, all requiring emergency intervention with diastat and quite frequently requiring a trip to the ER for another emergency medication, such as ativan. During illness (particularly anything involving his respiratory system) his seizure frequency would increase. His myoclonics began at 18 months. At a little after age 4, he finally saw some seizure relief when we started him on stiripentol (diacomit), which we import from France. Although fully approved by the EU (the European equivalent of the FDA), this medication has only received Orphan Drug Status in the U.S. in October, 2008. Several months after starting stiripentol, Elliot began taking clobazam (now approved as Onfi in the US) and within a week he no longer had myoclonic activity. These two meds, in combination with depakote, have been the most effective combination for seizure control in Elliot. Stiripentol is the only medication specifically indicated for Dravet syndrome and has greatly improved his quality of life. Although Elliot continues to have the same seizure triggers, we are more open to take the “risk” of him having a seizure as they now resolve on their own in under a minute and typically happen when he is sleeping.

At age 14, Elliot has severe developmental delays, behavioral issues, and difficulty with his gait. He attends a therapeutic day school where they focus on therapies and daily living skills. Even with all of the difficult things that Elliot has gone through, he is still a happy and loving child. We will continue to fight to find options to improve his quality of life and hope one day for a cure for not only him, but all of the other patients dealing with Dravet syndrome.