Finding Grace After Dravet Syndrome Diagnosis

Grace Rodriguez

Gloria Rodriguez is the DEI Coordinator for the Dravet Syndrome Foundation and mother to Grace, who was diagnosed with Dravet Syndrome shortly after her first birthday. Global Genes asked Gloria to talk about the diagnostic journey for Grace, and the work Dravet Syndrome Foundation does. 

I became involved with the Dravet Syndrome Foundation (DSF) to find a sense of control where there was none. Being active and trying to be part of a solution became a driving force for me. Grace was diagnosed with Dravet syndrome (DS) a couple of months after her first birthday and I felt shock, sadness and grief for the life I knew she would not have. Grace’s neurologist explained to me and my husband, this was the first time she had ever given this diagnosis to anyone. She did some research and found the DSF website, downloaded a pamphlet and handed it to me. That was the day our whole life changed.

Grace had her first seizure at 4 months old and by the time she was 10 months old, a 48-hour EEG at home resulted in the facts. Grace was having over 400 seizures a day. All types and at all times of the day and night. Before she turned one year old, she had been in the ER and pediatricians’ office so much that we were on a first-name basis with the office staff. She had been intubated 18 times and hospitalized almost weekly. We wanted answers, but no one could give us any and despite the obvious struggles this type of life brings, we could not find a doctor who would help us. Finding the right
neurologist was the key to the inevitable answer; the neurologist also advocated for genetic testing with an insurance company that did not want to pay for it.

The next chapter of Grace’s life began with the entrance into her first clinical trial. Our family was nervous about the outcome, but we knew she could not keep living with the seizures she kept experiencing. This trial medication, which eventually received FDA approval, has helped for most of her life now as she continues to grow, and with seizures continually changing. Grace is now 11 years old and changing medications and treatments has been part of her life. Learning to live and adjust around these changes as she becomes a pre-teen with developmental delays and challenges with everyday activities is tough on all of us.

DSF has been supportive from the start with providing equipment to help Grace communicate, and emotional support with the programs they have for parents. I began with a small fundraiser to help raise money for DSF, then I was lucky enough to be a Family Network Ambassador for a little while and then I helped put together a Day of Dravet workshop for local families and two fundraising galas. Now, I get to work for DSF as their DEI Coordinator where I can help elevate patient stories from all perspectives with a goal to expand the mission to provide support to affected individuals and families
like my own.

No matter what, Grace comes first for me and our family. That means our family life and choices all revolve around her needs and these last 11 years have been a rollercoaster. I still try to be the best advocate for Grace I can be, and for the larger Dravet family I have been led to.