By conducting and investing in research, we aim to better understand Trisomy 18 and improve the quality of life for infants, children, and their families. Join us in our mission to transform the landscape of Trisomy 18. Together, we can make a difference!
Trisomy 18 Newborn Screening Participation Research Survey
The Trisomy 18 Newborn Screening Participation Research Survey is for families with living or unalive children who have been diagnosed with Trisomy 18 (Edwards Syndrome). Our goal is to capture your understanding of newborn screening and assess your personal experiences with newborn screening processes.
Your input is valuable in shaping the future of our work and will help us expand how we support newborns impacted by rare diseases like Trisomy 18.
The Trisomy 18 Newborn Screening Participation Research Survey is a project of the E.WE Foundation’s Internship Program.
Student leaders: Harlie Williams and Michael Yun
The E.WE Foundation’s Newborn Screening Initiative is dedicated to enhancing awareness and knowledge regarding newborn screening among parents and caregivers of children with Trisomy 18, as well as healthcare professionals and the broader community. We are actively working to provide valuable resources, multimedia modules, and educational tools designed to foster a better understanding of newborn screening, its alignment with the Recommended Uniform Screening Panel (RUSP), and its direct impact on families facing the unique challenges of rare diseases, such as Trisomy 18.
Newborn screening is a state public health service that reaches nearly 4 million babies born in the United States annually. An estimated 12,000 babies and their families benefit from newborn screening through the early detection of disease and the delivery of life-saving treatments. Although nearly all babies born in the United States every year receive newborn screening, only about two out of three people are aware of newborn screening, and only about one out of three people can correctly identify a definition of newborn screening.
As an organization, we are committed to promoting newborn screening awareness, education, and legislation to ensure more infants are routinely screened for potential health issues during the crucial early stages of life. This early intervention has the power to prevent or alleviate the effects of certain conditions, ultimately enhancing the overall health and quality of life for newborns and their families.
Learn more about our newborn screening initiatives by visiting theewefoundation.org/newbornscreening.
Financial Burden Research Project: Assessing the Financial Impact Associated with Trisomy 18 Diagnoses
In partnership with Global Genes, the E.WE Foundation is conducting a financial advocacy research survey to assess the financial burden associated with a Trisomy 18 diagnosis. Our goal is to explore individualized financial concepts to identify whether access to financial advocacy resources and education can contribute to lower out of pocket expenses for families impacted by Trisomy 18.
Why is this survey important?
A study conducted by the EveryLife Foundation for Rare Diseases concluded that the estimated economic cost of 379 rare diseases reached nearly $1 trillion in the U.S. in 2019. To generate the data for this study, EveryLife identified both direct medical costs, via an analysis of claims data, and indirect and non-medical costs, via a survey (The Rare Disease Impact Survey) of 1,399 members of the rare disease community. The study identifies an urgent need to fund research, enhance awareness, and improve access to diagnoses, care, and treatment of rare disease.
This is a funded project. Compensation for participation is available.
- Expected duration: 10-15 minutes
- Deadline: October 29, 2021
- A Spanish version is available upon request.
Collaborative Research Initiatives
The E.WE Foundation is participating in partnership with the Castleman Disease Collaborative Network (CDCN) and the Chan Zuckerberg Initiative to understand the state of drug repurposing in rare diseases and create a shared, free resource that will make it easier to pursue successful drug repurposing. If you’d like to join us in this important work, please click the link below to complete the survey as a patient, loved one of a patient, physician, or researcher. The interactive ROADMAP tool and the data insights are now available to explore on www.everycure.org/roadmap.
- Expected duration: 15-20 minutes
- Deadline: November 9, 2021
- A Spanish version is available / Hay una versión en español para pacientes
If you have any further questions, please contact project lead Ania Korsunska at ania@castlemannetwork.org or check out our website https://cdcn.org/roadmap.
Additional Background: 95% of the ~7,000 rare diseases do not have a single FDA-approved therapy. Since incentives for new drug development for rare diseases are limited, drug repurposing provides a promising way to identify effective treatments for rare diseases faster and cheaper. There are many treatments out there which could be useful for many rare diseases, but to date, there has been no systematic effort to gather such a large and diverse data set of information and experiences, and no centralized resource exists that can help guide drug repurposing. With your support, we can help create it! You can read more about the project here: https://cdcn.org/roadmap
The E.WE Foundation 