DSF. This June, our team attended the Biennial Family and Professional Conference held by the Dravet Syndrome Foundation (DSF). Over three days in Minneapolis, research findings and therapeutic advances were discussed, and families shared their stories. As a first-time attendee, it was a humbling experience to be invited into this tight-knit, motivated, and inspiring community. Here, I would like to share some of the lessons I learned while in attendance.
DSF 2024. Highlights from the conference included speeches from Arjun Pillai and Ingo Helbig, releasing butterflies to honor individuals with Dravet syndrome who passed away, and working alongside colleagues.
We have much to learn from patient advocates. At the conference, Arjun, a research student in the Helbig lab, shared some of his personal experience with SCN1A. Arjun spoke about his diagnostic journey, including how an SCN1A diagnosis has impacted him, his brother, and his family. Here is some of what he shared with us:
“In high school, my condition became clearer with a more specific [SCN1A] diagnosis from Dr. Ingo Helbig. This information helped me to understand and accept my condition and prognosis more deeply. During this period, I saw an improvement in my social life, and I made more friends. It has always been difficult for me to make, keep, and trust friends, as my epilepsy made me feel different…
…My personal journey is a testament to my belief in the importance of healthcare, deeply influenced by my experiences with my brother and the impact of my two role models—Dr. Berman, and Dr. Helbig. Spending time with my brother and volunteering at the mental health hospital were pivotal in shaping my path. Understanding that I am not alone in my struggles has driven me to continue advocating for those in need. These experiences have made me more empathetic and capable of making meaningful contributions to healthcare, solidifying my commitment to this field.”
Family advocacy has inspired exciting research. The number of stakeholders invested in the SCN1A community was an exciting aspect of this meeting. Through their dedication and advocacy, families have motivated a huge amount of interest in SCN1A research and therapeutics. Much of the conference’s first day involved updates on clinical trials and novel therapeutics. Additionally, natural history studies—including the DSF-funded CHOP Clinico-Genomics Research Study—were offered a platform to share our work and invite families to enroll. As Johanna and I spoke with families about the study, I appreciated how driven DSF families were to work toward improving our understanding and treatment of Dravet syndrome.
Every person with an SCN1A variant is an individual. It is well-known that SCN1A variants cause a spectrum of clinical phenotypes, from genetic epilepsy with febrile seizures plus, to Dravet syndrome, to a developmental and epileptic encephalopathy associated with gain-of-function variants. However, it has become clear that genetic variation within SCN1A cannot fully explain this phenotypic diversity. For this reason, the natural history study at CHOP is interested in looking genome-wide to discover modifiers of SCN1A-related clinical severity. Our hope is that, when this project is complete, we can return to this conference and offer families an answer to the question of why Dravet syndrome can look so different from person to person.
Know your c. and p. On the second day of the meeting, Ingo gave a talk on The Genetics of Dravet Syndrome. Among many pearls of wisdom, he encouraged families to be acquainted with the specific genetic variant identified in their loved one with Dravet syndrome. They should aim to familiarize themselves with the location of the variant within the coding sequence (c.) and amino acid sequence (p.) of the SCN1A gene and protein. As we learn more about genotype-phenotype correlations in SCN1A, this knowledge may become increasingly relevant to clinical care. To me, knowing your c. and p. not only encourages families to be informed advocates for their loved ones, but also fuels hope for a future where—in the era of precision medicine—clinical care can be tailored beyond the gene level.
We can look to the future while honoring the past. One of the most moving aspects of the conference was a butterfly release to honor individuals with Dravet syndrome who have been lost to sudden unexpected death in epilepsy (SUDEP). I found it so touching that, even at a meeting focused so strongly on the future of SCN1A, this community came together to recognize those who are no longer with us. Of all the incredible moments at this conference, this one has stuck with me the most.
I would like to thank the Dravet Syndrome Foundation for the opportunity to attend this meeting, and I look forward to continuing our work with this community in the future.
