June 10th, 2023, was a beautiful sunny day in Philadelphia, PA, as hundreds of cyclists rode to raise money for rare disease research. Riders had a choice of what distance to ride, with segments of 10, 32, and 70 miles available. All routes started and ended downtown at the campus of the University of Pennsylvania.
Thirty-nine teams rode to raise money to be used for grants for research in the diseases they were representing. One thing that makes this fundraiser unique is that no money was taken out for overhead. All money raised went directly to the grants.
Jennifer Higgins Nicholl and her husband Eric, along with 9 other riders, made up the team riding in support of the NR2F1 Foundation, in the name of Jennifer and Eric’s daughter, Maggie. Maggie was diagnosed with BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome) when she was 3 years old. Jennifer is one of the original founders of the foundation and is currently the foundation secretary. The other nine riders rounding out the NR2F1 team were Jenny and Matt Czaplicki, Samantha Fleming, Becky Fleming, Tara McCartney, Maura Mohan, Kim Barrow, Megan Vigrass, and Ross Reynolds.
BBSOAS is a neurodevelopmental condition caused by a disruption in the NR2F1 gene, characterized most commonly by developmental delay, intellectual disability, and visual impairment. It is estimated that BBSOAS affects 1 out of every 250,000 babies born each year. This means that approximately 4,000 babies are born annually with a change in their NR2F1 gene around the world.
These are Jennifer’s thoughts and how she remembers the day.
“Riding 30 plus miles is something I have never done, nor did I quite think I was capable of. However, knowing our efforts, blood, sweat, and tears (not much of an exaggeration) would benefit this mission, I was determined to do so.
We were lucky enough to have a sunny beautiful day riding throughout the city of Brotherly Love and adjacent areas. We were surrounded by hundreds of other riders, also there to support their loved ones with other rare diseases. There was much love felt that day knowing the generosity of friends, family, and our NR2F1 community.”
On behalf of Maggie and all those living with BBSOAS, the entire NR2F1 Team of cyclers and the board of directors thanks everyone for their support and donations. A total of $20,000 was raised for the NR2F1 Foundation, all of which will be used for ongoing research.
Pictures taken of this year’s event can be seen on the Million Dollar Bike Ride website.
Carlie is the Vice President of the Board of Directors for the NR2F1 Foundation, a registered 501(c)(3) non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene.
With a B.S. in Special Education and a M.S. in Counseling, Carlie has worked at EPU Children’s Center as a Resource Specialist serving parents of children living with disabilities and then directed a parent leadership group for disability advocacy through storytelling and public speaking.
Carlie lives with her husband Jeff and their two daughters, one of whom has the rare Nr2f1 gene mutation, in Royal Oak, Michigan. She wants all Nr2f1 families whose lives have changed dramatically to know they are not alone.
