FAST, the Foundation for Angelman Syndrome Therapeutics, announces funding for the Emergency Care Consortium grant to provide a global emergency and urgent care hotline. The hotline is free of charge, available 24-hours a day and seven days a week, and will enable provider-to-provider consultations to manage urgent issues with the appropriate standards directly related to Angelman syndrome, especially seizures. More than 90% of individuals with Angelman syndrome experience seizures which are often difficult to control with traditional seizure medications.
FAST is funding the Emergency Care Consortium, which will be available for provider-to-provider use in July 2021, with clinical experts that truly understand the nuances unique to Angelman syndrome. 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. Parents will be able to provide the hotline phone number to a medical provider that may not be versed in Angelman syndrome to appropriately manage urgent medical issues.
“Our goal is to offer providers across the globe provider-to-provider consultations,” said Dr. Duis. “We plan to utilize protocols that will translate into published evidence-based data on the treatment of Angelman syndrome. The hotline is a first-in-kind resource with an expert medical provider on service 24/7 for a rare disease. We are grateful for the opportunity to ensure that all individuals with Angelman syndrome receive the same standard of care and to provide the community with an important resource.”
The medical leadership team will collect data, including whether the individual required admission, medications used and seizure control post-consultation, to create global care guidelines for the emergency and urgent management of individuals living with Angelman syndrome. The data will provide prospective information collected in the course of management by Angelman syndrome experts to enable clinicians to understand the utility of the protocols established and create forward-thinking recommendations for the Angelman community.
“There is a vital need for access to providers with knowledge of Angelman syndrome during a time of crisis,” said John Schlueter, chairperson for the FAST Board of Directors. “The Emergency Care Consortium grant is a novel approach to providing the best practices for seizure and urgent care management for individuals with Angelman syndrome while collecting valuable data to help improve the standard of care for our loved ones.”