A story I often tell is of an encounter I had with a neurologist at a professional meeting several years ago. After introducing himself, he asked what organization I was with. When I told him I was with the Dravet Syndrome Foundation (DSF), he responded, “Oh, I’m adult neurologist. I don’t see patients with Dravet syndrome.” I was stunned into silence for a split second and then this poor man got an earful about our adult population. For me, it was a shocking realization that it was if though no one had really considered the fact that these kids would eventually grown up.

To quote William Osler, The good physician treats the disease. The great physician treats the patient who has the disease. But where are the great physicians who treat Dravet syndrome (DS) in adults? To be fair, this gap of understanding with adult providers is in part because DS was only first recognized in the late 1980s, followed by the discovery of the genetic mutation and a commercial genetic test available in the early 2000s. We know there are a significant number of DS patients out there who have either been misdiagnosed with another rare epilepsy syndrome (such as Lennox-Gastaut syndrome) or have been given a diagnosis of idiopathic epilepsy of unknown origin. When patients haven’t been properly diagnosed it is difficult to understand the progression of this disease and potential outcomes for adults. And, when we don’t know have a clear understanding of the number of adults in our community, it is difficult for medical professionals to recognize their specific needs and potential gaps in care that need to be addressed.

In the last several years DSF has begun to explore ways that we could help educate medical providers and find ways to fill these gaps. We are fortunate that our Medical Advisory Board (MAB) members have undertaken several efforts in this area. In addition to presenting on this subject at professional meetings, many of our MAB members have been talking to their institutions and affiliated adult neurologists about setting up transition clinics to make the process easier for patients and caregivers. Dr. Scott Perry is formally launching his Adult Genetic Epilepsy (AGE) Clinic at Cook Children’s Hospital in Ft. Worth, Texas, in June of 2019. The goal of the clinic is to maintain the multidisciplinary care and expertise traditionally available in pediatric genetic epilepsy clinics as patients become adults. Programs such as this will offer the opportunity to better understand and characterize the progression of DS in adulthood.

This year, we welcomed our newest MAB member, Dr. Danielle Andrade, an adult neurologist in Toronto, Canada. She is the founder and Director of Krembil Neuroscience Epilepsy Genetics Program and is also the Director of the Epilepsy Transition Program, a program in collaboration with The Hospital for Sick Children that helps promote coordinated, smooth and efficient transition from the pediatric to the adult health systems for patients with intractable epilepsy. Her experience will be instrumental in educating other adult neurologists and she is also exploring potential research projects that will be of benefit for our adult population.

DSF is also proud to be sponsoring the Genetic Epilepsy Transition (GET) Study that is being led by Danielle Boyce Reinhart, MPH. Ms. Reinhart’s study will collect information from caregivers on their experience with transitioning their child from the early teens to adulthood. Her intent is to develop a white paper for publication that will help guide parents and can also be shared with professionals. If you are interested in participating, I would encourage you to join the project’s focus group to learn more.  

Moving from pediatric to adult care in our healthcare system is a complex process, especially when there are few experts treating DS in the adult population. To help address this, in 2018 DSF formed an Adult Caregiver Advisory Panel. We have been working with this group of parents to identify community needs and begin to gather more information to allow us to develop tools or programs that will be beneficial for our adult community and their caregivers.

If you are a parent of an adult with DS, we recognize your frustration with the lack of options available for care. Your voice is important. Please consider helping DSF increase awareness of the needs of our adult population:

  • Join the Caregivers of Adults with DS support group – Connect with other families of adults and learn about surveys or studies for the adult community you can participate in.
  • Participate in the Genetic Epilepsy Transitions study. The study will be conducted online via a private Facebook focus group to allow ease of participation. 
  • Share your child’s story. Contact Wendy to share your child’s story and/or photos. Awareness comes through recognition. We need your help to show the face of Dravet adults to our professional community.
  • Email me with suggestions on what would be helpful for your family – DSF is always working on new tools and informational materials that will benefit our community.