Life Is What You Make Of It: Dravet Syndrome Conference

Last summer (2007) we finally got a diagnosis for Jessica. She has a gene mutation that is associated with something called Dravet Syndrome. It is a catastrophic Epilepsy where seizures begin in the first year of life, and usually associated with a fever. Many seizures are very long or status, which means they last a long time, or just as one ends another begins and this cycle continutes. As they grow the seizures change and they have multiple types. The seizures are resistant to treatment with medications. Around the age of 3 the children stop progressing and either stagnate or decline in their development. Up until this point they develop normally and seem very bright and active. This was true for Jessica as well. There are many other things associated with it some of them being, not able to regulate body temperature, cold hands and feet, averse to sudden temperature changes (i.e, going from the bathtub to air temp can result in a seizure), and increased susceptibility to infection. This makes life very hard for these poor little sweeties. Between the ages of 4 and 6 seems to be the hardest time as seizures increase dramatically and many start having seizures while they sleep.

Jessica's seizures now occur mostly while she is sleeping and with illnesses. However we have found that she is "allergic" to some foods. The doctors say she is not truly allergic, but when she eats anything with Wheat, Corn or Sugar, she has an increase in seizures. As these things are in all prepackaged and canned foods, she eats mainly meat, vegetables, fruit, nuts, beans, etc.

We have to be very careful and read labels to look for anything like modified food starch (corn), corn syrup solids, and high fructose corn syrup (this is the worst one for her), among many others. We have recently discovered that sugar substitutes don't have this negative effect on her so we have been able to find a few treats for her.

Jessica has a problem with regulating her body temperature in that she doesn't sweat at all. We ordered a cooling vest for her to wear when she goes outside in the heat, which helps to keep her cool. If she doesn't have this, she goes out for just a few minutes and her face turns bright red and her body gets so hot it thinks it is having a fever. This will cause her to have a seizure.

This last August we were able to go to a conference about Dravet Syndrome. It was held in Chicago and specialists from all over the world came to speak and consult with us. It was a great experience. We did have a short consultation from Dr. Nabbout who is from France. She was a lot of help in suggesting the direction we should take with Jessica regarding medications. We will return to Chicago to see Dr. Linda Laux who is the foremost specialist on Dravet Syndrome in the USA. We are very excited to see her. I took Jessica's medical history with me to Chicago to leave with her. We have an appointment in February to meet with her and her staff. Hopefully she will be able to give us better direction in Jessica's treatment.