FAST Launching 24-hour Provider-to-provider Seizure Hotline

Beginning in July, a global 24-hour emergency and urgent care hotline will be available for provider-to-provider consultations to appropriately manage issues, particularly seizures, related to Angelman syndrome.

The free hotline is funded through an Emergency Care Consortium grant provided by the Foundation for Angelman Syndrome Therapeutics (FAST).

The onset of seizures and how they are managed is a common concern for parents and caregivers of children with Angelman syndrome. Seizures, which affect more than 90% of Angelman patients, are frequently hard to control with conventional seizure treatments. Furthermore, such therapies may cause harm to the patient and affect long-term development.

Now, parents of children who are experiencing an emergency can give the hotline phone number to an attending medical provider who may not be familiar with Angelman seizure management. That provider can immediately reach a clinician who is an expert in the disorder.

The care consortium is led by Jessica Duis, MD, of Children’s Hospital Colorado, and a team of medical professionals whose members include those from Rush University Medical Center, Chicago, Illinois, and Weill Cornel Medical Center, New York City.

“Our goal is to offer providers across the globe provider-to-provider consultations,” Duis said in a press release. “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 team will collect data from hotline use, including whether the patient was admitted and which seizure treatments were used before consultation — if any — or afterward. The information will be used to establish global care guidelines and recommendations for emergency and urgent-care management of Angelman syndrome patients.

“There is a vital need for access to providers with knowledge of Angelman syndrome during a time of crisis,” said John Schlueter, chairman of 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.”

Angelman syndrome, which occurs when the UBE3A gene is missing or malfunctions, is thought to affect one in 15,000 individuals worldwide.