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Rare Form of Epilepsy - Dravet Syndrome

By Blogger June 30, 2015 - 9:05am

My friend Jamie is a mom of a child with of a severe form of the disease called Dravet Syndrome (also known Severe Myoclonic Epilepsy of Infancy), which can begin in childhood and be very serious if not managed well.

Dravet Syndrome, is a genetic mutation of the gene SCN1A, which is a sodium channel in the brain, that does not work.

I was most surprised to learn, from the Epilepsy Foundation that as many as 3 million people in U.S., and another 65 million worldwide, suffer from epilepsy yet only 40,000 are diagnosed with Dravet Syndrome.

What is even more sad is that epilepsy receives far less financial support from the government despite being more prevalent that Multiple Sclerosis, Cerebral Palsy, Muscular Dystrophy and Parkinson’s Disease combined.

I was especially surprised to learn that "In over 30 percent of patients, seizures cannot be controlled with treatment"according to the Epilepsy Foundation. This is the case for Jamie's child. Medication actually worsen's symptoms for Jamie's child.

Jamie and her husband Jason always amaze me. They are a great team. They help to manage their daughter’s condition, while raising two other healthy children, and have researched and decided that a special high-fat, low carbohydrate diet called ketogentic (also known as The Keto diet), was the best approach for them to stave off seizures for their child.

If you can believe, their child has been on the The Keto Diet and hasn't had a seizure in over two years. That's incredible. This diet produces what’s called ketones, which are formed when the body uses fat for its source of energy. Thus, fats become the necessary fuel. Apparently, the higher the level of ketone levels the more improved control there is of seizures.

Jamie and Jason always have their carry bag with their scale, calculator, measuring tools, etc for where ever they go, to prepare and measure food for their child to consume.

As a person who does public relations for a living, I feel I have my part to help spread much needed awareness. There are also so many activities, fundraisers and events, that families of children with Dravet Syndrome do not have to be alone.

Jaime and Jason also chronicle their own experience on a blog called The Keto Chronicles (on blogspot) sharing their experiences first hand.

Jamie says, “The first few months getting adjusted to this diet is important. It’s going to be hard. It’s going to be tough. Your kid is going to want out. Stick with it, I implore you. It has worked for us and we still hit snags in the road, with our daughter not wanting to do this anymore and wanting a special treat. Being reminded of being seizure-free for over two years keeps us going.”

A special shout out to my friends Jamie and Jason for being awesome and dedicated parents, and who are Health Hero’s for Dravet Syndrome.

Group Leader


There are so many diseases that don't have enough information, resources or support especially those that are rare conditions. This group, I hope, provides a place where women can start to find the information they are seeking with others looking to share experiences, and insights. This is a more targeted location for rare diseases specifically.


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