Danelle Umstead, blind Paralympic alpine skier and former Dancing with the Stars contestant describes the impact genetic testing has had on identifying the exact genetic cause of her retinitis pigmentosa, an inherited retinal disease (IRD).
Creating Connections in the Inherited Retinal Disease (IRD) Community
Spark Therapeutics, a commercial gene therapy company striving to challenge the inevitability of genetic disease, is honored to operate an online learning and educational website called aSharedVision (www.aSharedVision.com). Our mission is to create connections so people living with IRDs can learn from the experiences of others and gain the inspiration to live a full life. The website is a comprehensive digital resource for the IRD community, providing important disease education materials, community resources, and information on the science of gene therapy research. Connect with the IRD community on Facebook at www.facebook.com/aSharedVision/.
Empowering the IRD Community to Pursue Genetic Testing
Genetic testing is the only way people living with IRDs may unlock the underlying genetic cause of their disease. A genetic diagnosis may:
- Help you and your healthcare professional (HCP) determine the best disease management plan; or,
- Connect you to others in the community; or, and
- Focus your search for gene therapy clinical trials or natural history studies.
In order to empower the IRD community in pursuit of a genetic diagnosis, Spark created Eye Want 2 Know (www.eyewant2know.com), a digital resource containing educational information around genetic testing, guides outlining how to get started, perspectives from members of the community who have pursued genetic testing, and the “Find A Provider” tool that enables users to locate HCPs who can facilitate genetic testing in their area.
In addition, Spark also offers a genetic test for people living with certain IRDs. The ID YOUR IRD panel tests for mutations in approximately 250 genes that are associated with IRDs. The genetic test and genetic counseling are available at no charge. This initiative is open to U.S. residents only, subject to the Terms and Conditions of the program.
Pursuing Genetic Testing for IRDs during the COVID-19 Pandemic
The COVID-19 pandemic has caused changes within our society and your health and well-being are of paramount importance. In normal times, visiting an HCP for an in-person visit may also present challenges. People interested in pursuing genetic testing should speak with their healthcare professional, as there may be genetic testing options available that don’t require an in-person visit.
Listen to the “Eye Know – Do you? Podcast
Join Danelle Umstead, blind Paralympic alpine skier and host of Eye Know – Do You?, as she shares stories from the IRD community on the importance of genetic testing. The stories highlight the courage, hope and ambition of those living with inherited retinal diseases, their families and their health care professionals. Listen now on EyeWant2Know.com, Apple Podcasts and Spotify.
