Peachtree Corners Family Raises Awareness for Rare Diseases with Community Walk

Any debilitating disease can take its toll on a family, but when the malady that has gripped a loved one is so rare that few have heard of it, challenges can become insurmountable.

Monday, February 28 commemorated Rare Disease Day, a global event bringing awareness and support for rare diseases. In the U.S., a rare disease is a condition affecting fewer than 200,000 people. An estimated 7,000 rare diseases exist, which means 1 in 10 people are affected. 

One local Peachtree Corners family is among that statistic.

Conor and Kari Bergin and their three children reside in the River Station community.  Their middle child, Vincent, was diagnosed when he was a year old with the rare disease, Bosch Boonstra Schaaf Optic Atrophy Syndrome. 

BBSOAS is a neurodevelopmental disorder caused by rare mutations on the Nr2f1 gene and characterized by a myriad of conditions including visual impairment, developmental delay, intellectual disability, autism spectrum disorder diagnoses, cognitive/behavioral anomalies, hypotonia (poor muscle tone), feeding difficulties, abnormal brain MRI findings and seizures.

To raise awareness for all rare diseases, the Bergin’s organized a “Walk for Awareness” event on Saturday, March 5. More 50 people, wearing t-shirts, holding signs and showing their support for all rare diseases on a two-mile loop through Peachtree Corners.

“The outpour[ing] of support was extremely thoughtful,” said Kari Bergin. “We really want to increase awareness for all individuals or families that are impacted by rare diseases. When our son Vincent was 1st diagnosed, he was the 59th case worldwide of this particular syndrome.” 

Once a rare disease is diagnosed, families seek education, awareness, and research.

“We know how confusing the navigation of these situations can be and while it’s ‘rare,’ …  We’re all different and it’s so important that we foster further education and an understanding for diseases like BBSOAS,” Kari Bergin added. 

The Bergins count themselves fortunate to have exceptional support and guidance from the pre-K special needs program at Simpson Elementary. To learn more about BBSOAS, go to nr2f1.org.