FAST Global Search & Rescue Initiative: Finding Every Individual Globally Living with Angelman Syndrome and Why it Matters

Quick Overview

The FAST Global Search & Rescue Initiative aims to find every individual globally living with Angelman Syndrome and understand the prevalence of the condition. The initiative is important because it helps attract drug makers, allows for specialized care and treatment, and provides a supportive community for families. The team is working on collecting data on known cases, using the Global Angelman Syndrome Registry, and collaborating with partners and ambassadors to find undiagnosed cases. They encourage parents to sign up for the initiative, share information with others, and become ambassadors in countries without Angelman Syndrome organizations. The initiative addresses challenges such as access to genetic testing, cultural considerations, and pathways to diagnosis.

Introduction

The FAST Global Search and Rescue Initiative aims to locate and identify every individual worldwide living with Angelman syndrome. In this talk, we will discuss the importance of this initiative and the reasons behind it. We will also provide an overview of the current prevalence of Angelman syndrome and the challenges in diagnosing and accessing care for individuals with this condition.

The Prevalence of Angelman Syndrome

Angelman syndrome is a rare genetic disorder with an estimated prevalence of 1 in 15,000 individuals. However, this figure is based on limited research and may not accurately reflect the true prevalence. Recent studies suggest that the actual prevalence may be higher, with estimates ranging from 1 in 8,000 to 1 in 12,000 individuals.

The Importance of Finding Every Individual

Locating and identifying every individual living with Angelman syndrome is crucial for several reasons. Firstly, it allows individuals and their families to access potential therapeutics and treatments. As advancements in research and clinical trials continue, it is essential for individuals with Angelman syndrome to have the opportunity to participate in these trials and receive the latest treatments.

Secondly, having a diagnosis enables individuals and their families to access patient-centered care and support. The Angelman Syndrome Foundation has published a comprehensive guidebook that provides valuable information and guidance for managing the condition. However, without a diagnosis, individuals and their families may not have access to this vital resource.

Lastly, being part of a global community of individuals with Angelman syndrome and their families provides a sense of belonging and support. It allows for the exchange of experiences, knowledge, and advocacy efforts. However, individuals in countries without awareness or access to this community may miss out on these valuable connections.

Addressing Under-Diagnosis

One of the challenges in identifying every individual with Angelman syndrome is under-diagnosis. In some countries, there may be a lack of awareness or resources for diagnosing the condition. For example, in Australia, it is estimated that there are only 500 known cases of Angelman syndrome, while the actual number should be closer to 2,000. This under-diagnosis prevents individuals from accessing necessary therapies and support.

The Global Search and Rescue Initiative

The Global Search and Rescue Initiative aims to address the under-diagnosis of Angelman syndrome and locate individuals who have not yet been identified. The initiative involves collating data on known cases of Angelman syndrome and developing strategies to increase awareness and diagnosis rates.

The Global Angelman Syndrome Registry plays a crucial role in this initiative. It currently has 1,865 individuals registered from 83 different countries. However, the goal is to expand this number to include as many as possible, ideally reaching half a million individuals worldwide. The registry provides a platform for individuals and their families to connect, access resources, and contribute to research efforts.

The Importance of Collaboration

The Global Search and Rescue Initiative is a collaborative effort involving clinicians, researchers, geneticists, neurologists, and patient organizations from around the world. By working together, these stakeholders can share knowledge, resources, and expertise to advance the initiative’s goals.

How to Get Involved

Individuals and families can support the Global Search and Rescue Initiative by signing up for the Global Angelman Syndrome Registry. This registry ensures that individuals are counted in the search and rescue efforts. Additionally, individuals can help spread awareness about the initiative to other Angelman parents, healthcare professionals, and schools.

For those living in countries without an Angelman Syndrome organization, becoming a search and rescue ambassador is another way to contribute. These ambassadors play a vital role in raising awareness, connecting with local families, and advocating for improved diagnosis and care.

Conclusion

The FAST Global Search and Rescue Initiative is a crucial undertaking that aims to locate and identify every individual globally living with Angelman syndrome. By addressing under-diagnosis and increasing awareness, this initiative ensures that individuals and their families can access the care, support, and treatments they need. Through collaboration and community engagement, the initiative strives to create a global network of individuals and organizations dedicated to improving the lives of those with Angelman syndrome.