FAST Funded Emergency Care Hotline Q & A with Dr. Jessica Duis
Anticipating and managing seizures is a common concern for parents and caregivers of children living with Angelman syndrome. Walking into an emergency room or urgent care facility with a child who has a rare health condition, such as Angelman syndrome, and being met by a doctor who is not well versed in Angelman syndrome and the nuances of seizure management that are unique to the syndrome, can be challenging and frustrating. FAST understands that misdiagnosed or undiagnosed seizures, as well as choices of specific antiepileptic drugs utilized during a seizure crisis, can dramatically impact long-term development or potentially even cause harm to individuals with Angelman syndrome.
Through the leadership of Dr. Jessica Duis of Children’s Hospital Colorado and a team of medical professionals, including Dr. Elizabeth Berry-Kravis of Rush University Medical Center and Dr. Srishti Nangia of Cornell University at Weill Cornell Medical Center, FAST is ensuring that all individuals with Angelman syndrome have access to the highest standards of care.
Why is the Crisis Care Hotline important for the Angelman community? For many of the common complications of Angelman syndrome, there seems to be some medications and pathways of management that improve outcome and quality of life. We want to ensure all providers and ultimately the families they care for have access to this growing knowledge. The goal of the hotline is also to collect prospective information on these clinical pathways to publish results ultimately to have a clear evidence base for the management of AS. Without participation from providers and families, we will not be successful collecting this information in real time to put out clear guidance to the community. In addition, based on this experience we will in real time modify the clinical pathways based on the data coming out of our consultations.
Why did this initiative interest you? Why are you interested in being a part of it? In caring for many individuals with AS, we are seeing some differences in many affected domains including seizure control, cognition and development. We want all families (even if they cannot travel to a clinic) to have the benefit of what we are learning and also have the prospective evidence to get meaningful and accepted guidance into the literature. It comes down to wanting all families to have access to the same standard of care.
What role do you play in the Emergency Care Hotline? By training I am a pediatrician and a geneticist. However, I have dedicated my career to caring for individuals with rare disorders including Angelman syndrome. I am also a part of our Special Care Section and am very involved in management and general care of individuals with Angelman syndrome. I have learned from so many families and epileptologists around the world as well as trained some on Angelman syndrome and what I have learned works for management. I have cared for hundreds of individuals with AS and participate in the line to share this knowledge with providers who have not had that breadth of experience. In addition, I am leading the research initiative with a passion to develop evidence-based standards of care for AS.
When (under what circumstances) do you recommend parents call this hotline? It is best if providers call directly to reach our nurse and/or provider on call. We hope to help in many areas. It is geared not only to seizures, but also to help with all things that may come up such as challenging behavior and sleep concerns.Any other information you’d like to share about the Hotline with the families? This is not just something to immediately help your child, but also to help us develop a standard of care with a strong evidence base behind it. We will be reviewing all calls and based on each experience developing the best treatment algorithm for kids with AS. Our success is highly dependent on the volume of calls we receive and the provider and parents participation in completion of surveys to assess how we are doing and what can be done better in the management of AS.