Eye Know - Do You?

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.

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.

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.

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.

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 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.

When former Mrs. America April Lufriu’s sister Melissa was diagnosed with Retinitis pigmentosa at just 19 years old, April poured her heart into advocating for her sister’s care. Hear how April's sister’s diagnosis prepared her – and didn’t – for her own and her children’s diagnoses and genetic testing journey two decades later. 

Tucker Dupree is back to share part two of his story. With his sight disappearing and bits of independence fading away, Tucker enrolled in a local school for the blind where he met a Paralympic runner who changed his perspective on his future as a swimmer. Here he discusses how is journey didn’t stop at a genetic diagnosis – what came next was bigger than he ever imagined. 

Four-time Paralympic medalist and motivational speaker Tucker Dupree shares how his determination to be a collegiate swimmer became a search for answers after he began losing his sight. Listen to Tucker as he reflects on his personal journey and how genetic testing solidified a diagnosis that changed the trajectory of his life.

Advocate and former emergency room physician Dr. Chris Moen started losing his sight at a young age, driving his passion for medicine and helping others with inherited retinal diseases. Originally diagnosed with retinitis pigmentosa at a young age, hear how genetic testing unveiled not only his own true genetic diagnosis, but an accurate diagnosis for 20 other family members.  

Cleveland Clinic’s Dr. Elias Traboulsi dives deep into the evolution of genetic testing technology and what it means for people with inherited vision loss. Dr. Traboulsi is Head of the Department of Pediatric Ophthalmology, Director of the Center for Genetic Eye Diseases at Cleveland Clinic’s Cole Eye Institute. 

As a certified genetic counselor and coordinator at Cleveland Clinic, Meghan DeBenedictis has helped hundreds of people with inherited retinal diseases understand the true meaning of their genetic diagnosis. Here she discusses how genetic testing has changed not only the perspective of her patients, but also evolved her own professional approach.

Former Dancing with the Stars contestant and blind Paralympic athlete Danelle Umstead shares how genetic testing confirmed her inherited retinal disease diagnosis. Listen in to hear her journey spanning the Paralympic Games, dance floor and genetic testing advocacy.