The Beginning

One in a million. A phrase that may seem all too familiar for rare disease patients and their families. For Kristen Smedley, it was two in a million. 

Kristin’s life changed when her first son was diagnosed as legally blind at the age of four months. Three years later, her second son was also diagnosed as legally blind. What seemed inconceivable, was now a reality. Flash forward almost 20 years and Kristin has turned hardship into unwavering motivation that continues to captivate the rare disease community. 

Before dedicating her life to rare disease advocacy full-time, Kristin was a third-grade teacher, unfamiliar with the term gene-therapy, and was the last person to think she’d ever find herself in front of the U.S. Food and Drug Administration (FDA). When she saw the growing needs of her boys and began connecting with others desperately seeking answers, she took matters into her own hands and set out to build a community to improve the lives of patients blind or visually impaired due to mutations in the CRB1 gene. 

In six years, Kristin went from managing a Facebook group to advocating at the FDA. In 2011, the Curing Retinal Blindness Foundation was founded and work began to fund CRB1 research and move to a cure as soon as possible.

It Takes a Village

Like many who take the plunge into the unknown world of rare disease advocacy, Kristin reached out to advocates she admired in search of advice.

There’s a saying about standing on the shoulders of giants and that’s exactly how I built crb1.org.

Kristin looked to the people around her who were having success and began learning, and ultimately collaborating to drive progress. While collaboration isn’t a new concept to the rare disease space, Kristin is certain that without the mentors and rare disease champions that came before her, she wouldn’t be where she or her organization is today. 

“I always say, if corporate America would look at the rare disease community and how progress is made, it’s collaboration at its absolute finest. It’s people jumping on teams that they don’t have any business being on but they want to see something accelerate.”

Humorously referring to herself as a serial networker, Kristin has taken advantage of every connection, social media post, meet-up and conference to build a community more knowledgeable and equipped to serve the growing needs of the rare disease community. 

The Realization

In search of the fastest way to find a treatment for her sons, Kristin became laser-focused on gene therapy and finding a treatment. She’d been a part of monumental progress and was energized to continue advocating in hopes of continued success. Then, she looked at her boys and knew her community needed more than one answer. Ignoring some of the suggestions around her to stay focused on research or resources, Kristin split her organization’s focus to meet the needs of her sons and the CRB1 community.

Fortunately for Kristin, she gained valuable community insight from the two most important voices in her life. As a result, she’s come to understand that her foundation serves the community in two ways. The first is research and funding for treatment. The second is resources. Resources that give the community opportunities to experience the world and thrive while blind. 

My dream is that we give them so many tools and resources in addition to pushing research forward, that the day that cures are available, it’s an incredibly hard decision for those patients to choose which route they want to go. That’s when my job will be done.

For Kristin, whether it’s seeing her son Michael perform on stage in Nashville, or Mitch compete in the Paralympics, she knows treatment or not, she’s helped give them the resources to accomplish incredible goals. “Your kid is still going to get to the top of the mountain – you’re only the best providers of hope.”

Where She’s Headed

Kristin knows that she still has plenty of work to do. This year, Curing Retinal Blindness is focusing on publicity, building a patient registry, and fostering the resources that will continue to allow the community to thrive. 

This September, Kristin will be honored as a RARE Champion of Hope for her accomplishments in rare disease advocacy. For her, it’s an accomplishment she’s honored to share with previous winners who have been trailblazers in rare disease advocacy and people she continues to look to for guidance. 


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