We’re There When You Need Us: A 24-7 Emergency Care Hotline for the AS Community
Dr. Jessica Duis discusses the development of a 24-7 emergency care hotline for the Angelman Syndrome (AS) community. The hotline aims to provide standardized care for children with AS and ensure they receive the best treatment possible. The hotline is staffed by nurses and offers clinical pathways and algorithms for various AS-related concerns. The goal is to create a standard of care for AS and educate providers on how to best care for individuals with the syndrome. The hotline also plans to expand its services to include access to speech and language therapists, dieticians, and education advocates. The hotline can be reached through a 1-800 number and email, and interpreters are available for non-English speakers. The development of the hotline was made possible with the support and funding from FAST (Foundation for Angelman Syndrome Therapeutics).
In this talk, I want to highlight the importance of building an infrastructure to provide standardized care for children with Angelman Syndrome (AS). This initiative, funded by FAST and strongly supported by FAST, aims to ensure that every child with AS receives the same level of care regardless of their location. As someone who is passionate about creating centers of excellence for rare diseases, this project is close to my heart. It has not only revolutionized the care for AS but has also paved the way for rethinking how we approach rare disorders in general.
Community Needs and Experience
During a meeting with the FDA, it was emphasized that in order to have successful clinical trials, all children with rare diseases should receive a standard of care. This ensures that when entering a clinical trial, every child receives the same level of care. As experts in AS treatment, we wanted to make this accessible to all families, regardless of their proximity to specialized providers. Our goal was to create health equity and ensure that everyone benefits from the knowledge and expertise of AS experts.
The Infrastructure and Innovation
The 24-7 emergency care hotline for AS was launched in July 2021 after overcoming numerous regulatory challenges. Since its inception, we have received calls covering various aspects of AS, with seizures being the most common concern. However, we also address issues related to sleep difficulties and constipation. It is important to note that AS requires a holistic approach, considering the overall well-being of the child. To ensure consistent care, we have developed clinical pathways and algorithms that guide our approach. This standardized approach allows any expert who receives a call to provide the same level of care.
Research and Data Collection
One of the key aspects of this initiative is the collection of data to inform best practices. By prospectively collecting data on each child’s response to the clinical pathways, we can refine and improve our approach. This research aspect will contribute to the development of evidence-based standard of care practices for AS.
One of the main barriers we face is awareness. The culture of rare diseases often relies on peer-to-peer support through platforms like Facebook. However, we wanted to break this pattern and provide a reliable expert line that is available 24-7. We have encountered challenges in getting providers to call the hotline, but we are actively working on educating them about its existence. Additionally, we have an email option for those who are unable to get their providers to contact us directly.
Expanding Services and Partnerships
We are continuously working to expand our services to address the diverse needs of the AS community. In partnership with the Angelman Syndrome Foundation, we are exploring the inclusion of access to a speech and language therapist with AAC, a dietician, and an education advocate. These additional services aim to provide comprehensive support to individuals with AS and their families.
Furthermore, this initiative has paved the way for a new standard of care for all rare disorders. By demonstrating the effectiveness of this approach, we hope to revolutionize the way rare diseases are managed and ensure equitable access to care for all.
How to Reach Us
To access our 24-7 emergency care hotline, you can call our international 1-800 number. We have interpreters available for various languages to ensure effective communication. Additionally, you can reach us via email, which is actively monitored.
The 24-7 emergency care hotline for AS is a groundbreaking initiative that aims to provide standardized care and support to individuals with AS and their families. With the support of FAST, we have been able to build an infrastructure that ensures equitable access to expert care. We are committed to continuously improving our services and expanding our offerings to meet the diverse needs of the AS community. Together, we can make a difference in the lives of individuals with AS and pave the way for better care for all rare disorders.
- Title: We’re There When You Need Us: A 24-7 Emergency Care Hotline for the AS Community
- Author(s): Jessica Duis
- Author(s)’ affiliation: Children’s Hospital Colorado
- Publication date: 2022-01-04
- Collection: 2021 FAST Science Summit