Genetic Testing

From the Slopes to the Doctor’s Office: The Power of Genetic Testing

By Danelle Umstead, Blind Paralympian and former Dancing with the Stars Contestant

II first realized I was losing my vision when I was 13 years old. While I had always worn glasses and frequently had headaches, one morning was different. The headache, which usually subsided after putting on my glasses and taking a Tylenol, would not subside.

Two days later my mother took me to see my eye doctor, who conducted some in office tests on my eye and of my vision. We got the test results within a few days—retinitis pigmentosa. Retinitis pigmentosa, or RP, are inherited retinal diseases (also called inherited retinal dystrophies, or IRDs), which is a group of rare eye disorders caused by an inherited gene mutation and can result in vision loss or blindness.

Retinitis Pigmentosa No Barrier to Paralympic Glory

RP is a specific group of inherited, progressive eye diseases that appear when the light-sensing cells of the retina—the rod and the cone photoreceptors—begin to deteriorate. Night blindness (nyctalopia) in childhood or early adulthood is typically the first symptom. As the disease progresses, those with RP experience loss in their peripheral vision, developing tunnel vision. Eventually, they lose their central vision as well, resulting in total blindness.

By 2001, at age 29, I was already nearing total blindness, having lost my central vision in both eyes. It was one of the darkest moments of my life, until I got a phone call from my dad, who wanted me to come out skiing with him in New Mexico. I thought it was just about the craziest idea I had ever heard, but I was desperate.

That first time on the mountain—in my “blind skier” bib—I finally felt alive again. From then on I skied whenever I could and moved to New Mexico four years later. I dedicated myself to skiing. In 2010, I won two bronze medals at the Paralympic Games and was ranked third in the world.

Genetic Testing Provides Insights on IRDs (Inherited Retinal Dystrophies)

But 2010 brought another difficult diagnosis for me. After the games, I discovered I also had multiple sclerosis (MS). This was the moment that drove me to pursue genetic testing, or medical tests that identify changes in chromosomes, genes, or proteins, to better understand my IRD. I thought about my son, and how he could inherit my blindness if it was genetic. My husband helped me by using the ’Find a Provider’ tool on the EyeWant2Know.com website, a resource provided by Spark Therapeutics.

Read more: Partially Blind Skier Danelle Umstead Achieves Paralympic Success

Through the tool, I was able to locate a health care professional near me that could provide the testing. While I was initially nervous about getting tested, the process was simple. All I had to do was spit into a cup and shortly after, I had my answer. My genetic testing results showed I do have retinitis pigmentosa, which meant a specific gene mutation is causing my blindness.

The knowledge that I gained through genetic testing to determine the genetic mutation causing my eye condition motivated me to share my story and become an advocate. I realized that not only should I be tested, but my husband and son should be too. For others living with RP or other inherited retinal diseases, genetic testing can empower them to make more informed health care choices and connect with others in the community.

When it comes to my story, genetic testing gave me invaluable information about my condition, helped define next steps to understand what it might mean for my family, and has empowered me to live a richer life. If you, a family member or a friend have been diagnosed with an IRD, now is the time to pursue genetic testing through the resources available on http://www.EyeWant2Know.com.

About the Author:

Danelle Umstead is a medal-winning Paralympic skier, the first visually-impaired competitor on Dancing with the Stars and serves as a genetic testing ambassador on behalf of Spark Therapeutics.