Children's Hospital Colorado

First-In-Kind Hotline Provides Emergency Care Guidance for Individuals with Rare Angelman Syndrome

Children's Hospital Colorado | May 18, 2021

Patients with Angelman syndrome, a rare neurogenetic disorder, will have access to a new, first-of-its-kind hotline. The emergency hotline, available 24-hours a day and seven days a week, will enable provider-to-provider consultations to manage urgent issues with standards of care specific 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, the Foundation for Angelman Syndrome Therapeutics will provide funding for the Emergency Care Consortium grant for the global emergency hotline.

Traditional seizure treatment can negatively impact children with 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 the nuances of seizure management protocols unique to Angelman syndrome, can be challenging and frustrating. Misdiagnosed or undiagnosed seizures, as well as specific drug choices to treat seizures, can dramatically impact long-term development or potentially cause harm to individuals with Angelman syndrome.

Children’s Colorado doctors ensure access to care for people with Angelman syndrome

Through the leadership of Dr. Jessica Duis of Children’s Colorado and a team of medical professionals, including Dr. Elizabeth Berry-Kravis of Rush University Medical Center, Dr. Srishti Nangia of Cornell University at Weill Cornell Medical Center and Dr. Diana Walleigh of Children’s Colorado, FAST is ensuring that all individuals with Angelman syndrome have access to the highest standards of care.

“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.”

Continued data collection will inform Angelman syndrome treatment standards

The FAST team will collect data about required admissions, medications used and seizure control post-consultation, to build global care guidelines for emergency and urgent care of individuals living with Angelman syndrome. The data will enable clinicians to understand how effective the established protocols are 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.”

About Angelman syndrome

Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of a particular gene. While there is no definitive count, it affects an estimated 1 in 12,000 to 1 in 20,000 people globally. Angelman syndrome is characterized by factors including severely impaired expressive language, seizures, walking and balance disorders, and frequent laughter and excitability. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. There are currently no approved therapies for Angelman syndrome. However, research on new treatments suggests improvement of symptoms can potentially be achieved at any age.

Children’s Colorado’s A15q Clinic specializes in treating Angelman syndrome

The 15q Clinic at Children’s Colorado specializes in the treatment of Angelman syndrome. It is led by Dr. Duis and pediatric neurologist Dr. Diana Walleigh and includes specialists from neurology, genetics, developmental medicine, rehabilitation medicine, diet and nutrition, speech, occupational therapy and physical therapy. Learn more about the clinic and the hope that drives it, in this CBS Denver story.