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Community perspectives


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Genetic testing can help people with an inherited retinal disease (IRD) avoid misdiagnosis of their disease variation — something relatively common with such rare diseases.

If you or your family member is diagnosed with an IRD, you should consider genetic testing, as it may help confirm or refine important health information. Genetic testing can also open up opportunities to contribute to research or connect with others in the community – including IRD-specific advocacy organizations – for community, support and resources.

Testing can also provide you and your health care professional (HCP) with important information that can help determine eligibility for clinical trials.

Learn more about the benefits of genetic testing through community perspectives on genetic testing – and declare “Eye Want 2 Know” today. 

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Perspectives on genetic testing

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More perspectives

Dr. MacCumber

An Ophthalmologist’s Perspective on Diagnosing Inherited Retinal Diseases (IRDs) through Genetic Testing

Mathew MacCumber, MD, PhD, opthalmologist and retina specialist, has seen many changes and innovations in his field over the past 25 years. One thing that stands out to him the most is the introduction of modern genetic testing for IRDs. Read the story >

Dr. Laura Miller and Dr. Mathew W. MacCumber

Busting Myths About Genetic Testing For Inherited Retinal Diseases

Genetic testing may identify the specific genetic variant causing a person’s inherited retinal disease (IRD). As genetic testing technology is rapidly advancing, many are left with a misunderstanding of how it works or how it can help people living with these rare eye diseases. Hear Dr. Laura Miller and Dr. Mathew W. MacCumber help clear up the confusion and bust five common myths about genetic testing. Read the story >

Christopher Moen, MD, and Danelle Umstead, who are living with an IRD, and Meghan DeBenedictis, a licensed genetic counselor

The Transformative Power of Genetic Testing: Four Personal Perspectives

Four individuals shared their inspiring stories about how genetic testing changed their perspective. Understanding the changes in your genes is the first step in opening new possibilities for yourself and your family. Read the story >

Cheri Schoonveld, MS, licensed genetic counselor

The Power of Peace of Mind

Cheri Schoonveld, MS, licensed genetic counselor, is working with patients to uncover the exact gene mutation that causes their inherited disease, specifically an inherited retinal disease, or IRD. With more than 270 genes linked to IRDs, one thing is clear: Behind every IRD, there is a mutated gene waiting to be identified. Read the story >

Danelle Umstead, paralympic alpine skier who is living with an IRD

Blind Alpine Skier Danelle Umstead’s Journey to Genetic Testing

Danelle Umstead, a three-time Paralympian and bronze medalist, 53-time world cup medalist, and Dancing with the Stars contestant shares how she took control of her retinitis pigmentosa by seeking genetic testing with the help of Eye Want 2 Know. Read the story >

Dr. Dawn DeCarlo

Genetic Testing: A Professional’s Perspective

In the words of Dr. Dawn DeCarlo, "In my work in low vision rehabilitation, I’ve seen the challenges faced by patients from a health care provider’s perspective, and I urge others to encourage their patients to seek genetic testing." Read the story >

Then and Now: A Family’s Diagnostic Journey Across Generations

Ed Morascyzk, his daughter Angela, and his grandsons Dominic and Dante have seen firsthand how far science has advanced from generation to generation. The Morascyzk family’s experience with genetic testing for inherited retinal diseases (IRDs) was just one more way they continuously put their loved ones and their community first. Read the story >

Owning Her Vision Loss: Rebecca Alexander’s Story

Rebecca Alexander chooses to see each day as a gift. Having experienced both vision and hearing loss, Rebecca is a dedicated advocate, bringing encouragement and determination to the vision- and hearing-impaired communities. Read the story >

Preparing for the Future: The Benefits of Early Diagnosis

Preparing for the Future: The Benefits of Early Diagnosis

With a family history of inherited retinal disease (IRD), Mary Lou Johnson Evans sought genetic testing for herself and her six-year-old son before any symptoms were present. That preparedness helped her understand available information and seek resources that her son would need one day. Read the story >

Knowledge is Power for Isaac Lidsky

Knowledge is Power for Isaac Lidsky

For Isaac Lidsky, it’s not about the blindness; it’s about the vision. When Isaac began to lose his sight from retinitis pigmentosa (RP) at the age of 12, he had no way of knowing that his sight loss would end up being his greatest motivator. Read the story >

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