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By Janice Lane Palko
Dravet syndrome is an intractable developmental and epileptic encephalopathy that occurs once in every 15,700 births. It is characterized by seizures that usually begin during the first 2-15 months of life. Patients experience a variety of seizure types that generally evolve and change with age with the seizures becoming prolonged, frequent, and more difficult to treat. In addition, patients experience a host of associated health issues, including behavioral and developmental delays as well as a 15-20% mortality rate.
In 2009, a group of parents with children who have Dravet syndrome formed the Dravet Syndrome Foundation (DSF) to raise funds for the syndrome and related epilepsies; to support and fund research; increase awareness; and to provide support to affected individuals and families.
Jen Marasco-Kuhn, 38, and her husband Chris Kuhn, 39, of Verona, parents of a child named Cora who has Dravet syndrome. Jen is a Family Network Ambassador for DSF, and she agreed to answer some questions about Dravet, what it is like to have a child with this syndrome, and how we can help.
1. When did Cora’s seizures begin?
Cora had her first seizure in October of 2020 when she was just five months old. It came out of nowhere on a beautiful sunny afternoon after we picked her sister up from preschool. We had no idea what it was and had to call 911 who sent EMTs to our home. Her seizure presented as jerks on the left side of her entire body. After the seven-ish minute seizure ended, she had left sided weakness. We had no idea what had happened, but as a trained geriatric social worker, I was concerned that she’d had some sort of stroke due to the left sided weakness. That was, thankfully, ruled out after testing.
2. How frightening was that for you? When did you receive the Dravet Syndrome diagnosis? And was it difficult identifying a diagnosis of what Cora had?
It was terrifying and made me feel so helpless. Cora was born in April right as the pandemic started, which was scary and stressful to begin with. When she had her seizure, we had no idea what was happening. Doctors had no real answers for us even after extensive testing for the first seizure. She ended up having three more seizures, each resulting in hospitalizations before she was given a diagnosis of Dravet syndrome.
3. How did you cope with the diagnosis? Was there anyone to offer support for you?
Our journey to diagnosis was not easy, and sadly, a lot of that was due to miseducation provided to us by the various medical professionals who initially treated Cora. I spent days doing online research about Dravet syndrome, and I joined the Dravet Syndrome Foundation's online caregiver support group, which introduced me to amazing parents from all over the world who literally are experts on their children and the intricacies of this disease. I credit them and their support for saving my sanity and my child's life multiple times when she was hospitalized, and doctors were not sure how to manage this rare disease.
4. What is daily life like with a child with Dravet Syndrome?
Daily life has changed over the last four years with Cora as we have gone through various phases. First, we were managing Cora's care along with many early intervention supports coming into our home. Then, we received weekday nursing care in our home who helped us manage Cora's care while we tried to establish new working routines. Cora lost seizure control when we established nursing care, which meant multiple hospitalizations and PICU stays. We lived a lot of the early years in a haze and with extreme PTSD. We were always waiting for the next seizure or medical crisis. Things started to get better in 2022. We found stable nursing care, had amazing early intervention support (PT, OT, Developmental, Vision, Dietary) and were seeing months between seizures. We had a big transition in 2023, when Cora started preschool with her nurses' support. We were anxious but optimistic. It has made all the difference in her growth and development. We also have begun to think of things other than Cora and attempt things as a family that seemed impossible within the early years of Dravet. This includes taking Cora on her first airplane ride to visit friends in Denver this past March.
5. What prompted you to become a Family Network Ambassador?
I decided to apply to be a Family Network Ambassador in 2022 because 2020-2021 were two of the worst years of my life, and without the support of people like the DSF Family Ambassadors, DSF staff and other parents, I'm not sure where my own family would be. Part of the mission of DSF is to aggressively raise funds to support research in hopes of finding a cure for Dravet syndrome. I helped create the Dye it for Dravet fundraiser in 2022. The fundraiser is in its third year and has raised over $40,000 to date. Through our fundraising efforts, we have two genetic trials that could be disease modifying, and we have the hope to one day have a cure for Dravet. .
6. What would you like our readers to know about Cora and living with Dravet Syndrome?
Cora is an amazing little person who continually teaches everyone around her many life lessons. One thing that she reminds us of is that people are more than just their diseases. June was Dravet syndrome awareness month, and we are motivated to share Cora’s story to raise awareness and support for all those living with Dravet syndrome. I imagine a world WITHOUT Dravet syndrome and through our efforts, I hope to see it in my lifetime!
To read an expanded version of the interview, visit our website. To learn more about how you can help, including the Dye It for Dravet fundraiser, visit: https://www.dyeitfordravet.org/
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