Overcoming Obstacles

Alpine skier Danelle Umstead is a three-time Paralympian and bronze medalist. She’s also appeared on “Dancing With the Stars,” married her husband at the top of a mountain, skiing down afterward—and, oh yes, she happens to be legally blind.

In fact, Danelle and her husband, Rob, made history at the 2010 Vancouver Winter Paralympic Games as the first husband-and-wife-visually-impaired-ski-race team to compete and medal for Team USA.

In an exclusive interview with EB, she explains that besides continuing to train and be a mom, she also speaks around the globe on “how to do the impossible every day.”

THE DIAGNOSIS

Diagnosed with retinitis pigmentosa in 1985, at age 13, along with early onset macular degeneration, she recalls, “It took many years to wrap my head around it. I thought I’d been dealt a bad hand.

“In fact, I started losing central vision in my left eye in 2000, and by 2001, I had lost all my central vision. I had so much happen at once. Besides my vision, I lost my mother and had to quit my job because they didn’t have the technology back then for low vision. That was a pretty low time.”

COMMITTING TO THE TURN

“My dad called to say he wanted to take me skiing. I thought it was crazy. I was 29, had never skied, and was living in Texas at the time,” Umstead recalls. “But, sometimes desperation leads you to inspiration, and I found myself skiing and falling in love with the sport.

“I heard about Paralympic skiing, and everyone told me it would be impossible. That’s when I decided I was going to live my impossible every day. It’s all about the importance of saying yes to opportunities.

“My husband researched my vision issues online, and I pursued genetic testing by using the ‘Find a Provider’ tool on Spark Therapeutics’ EyeWant2Know.com website to access genetic testing.”

LOOKING FORWARD

Knowing the genetic mutation responsible for her disease helps Umstead better manage her condition and make informed decisions for her own family, including learning if her son would be a carrier.

Danelle’s story underscores just how much scientific advances in genetic testing research are transforming the diagnostic journey for people living with inherited retinal diseases. “It was so empowering,” she recalls, “that I partnered with Spark.”

What does she recommend to the visioncare community? “Be encouraging, listen, and help patients find resources!”