Join the Two Blind Brothers, Bradford and Bryan Manning, on a journey to learn more about genetic testing. Diagnosed with Stargardt disease as boys, Bradford and Bryan are known for their advocacy and charitable work in the inherited retinal disease (IRD) community. Eye Know – Do You? is sponsored by Spark® Therapeutics. To learn more about inherited retinal diseases and the importance of genetic testing visit www.EyeWant2Know.com. Some speakers have been compensated for their time.
Ready for Science
The brothers chat with Ken Getz, a Tufts University School of Medicine professor and founder of CISCRP, which helps the general public understand the clinical research process, including those living with an IRD. He discusses the benefits and risks of clinical trials, and the value of participation in research. To learn more, visit Foundation Fighting Blindness.
Understanding Genetic Test Results
After discussing how genetic testing has evolved, Stephen Daiger, PhD, Director of the Laboratory for Molecular Diagnosis of Inherited Eye Diseases at the University of Texas at Houston, and Emily Place, MS, LCGC, a genetic counselor from Boston’s Massachusetts Eye and Ear, talk about the process of interpreting the results of a genetic test—and how empowering it can be for the person, their family, and their future. Learn more from Stephen Daiger on the importance of genetic testing at EyeWant2Know.com.
Receiving Genetic Test Results
With optimism and a positive attitude, Ashlyn Lincoln tells the story of how her newborn son, Gunner, who showed signs of vision loss, eventually received a genetic test—and how the results affected the family. A retina specialist diagnosed Gunner with Leber congenital amaurosis (LCA), a rare, inherited eye disorder. An ambassador for Hope in Focus, Lincoln reveals how overwhelming the process was at times, and how she found support through the online IRD Community. Learn more about the power of genetic testing at EyeWant2Know.com.
Pursuing A Genetic Test
Diagnosed with an IRD as a Marine in the early 2000s, Steve Walker received a medical discharge and went on to become an Ironman Triathlete. He and his wife, Kacey, walk listeners though the steps of his own experience with genetic testing, from learning about it, to getting the test, to the difference the results made for their families. A powerful reminder of how getting the right information can change many lives. Learn more about Steve and Kacey’s journey at EyeWant2Know.com.
Mary Lou Johnson Evans, the Motivated Mother
When her son was six years old, Mary Lou Johnson Evans decided to have her son genetically tested for an IRD, despite showing no symptoms. With a family history of IRDs, Mary Lou knew the sooner she could prepare her son with information and tools to take on a life with vision loss the better. Tune in to hear how Mary Lou’s preparedness got her son the tools he needed.
April Lufriu, the Empowered Mother and Competitor
April is back with the second part of her journey. As a mother of two young children with an inherited retinal disease and living with the same disease herself, April was empowered to raise awareness of inherited blindness. A life-long caretaker for others, hear how April persisted in her efforts to become Mrs. America and travel the world speaking on behalf of her family’s diagnosis and the importance of access to genetic testing.
Great insight into IRD, especially from an emergency physician’s perspective.