On Saturday, June 10, 2023, the 10th Annual Million Dollar Bike Ride (MDBR) will take place in Philadelphia, Pennsylvania. Hosted by the Penn Medicine Orphan Disease Center to raise money for rare disease research, the NR2F1 Foundation will be participating as an Independent Fundraising Team. This means that after paying a participation fee, all funds raised by the foundation will be used entirely at the discretion of the foundation.
The Million Dollar Bike Ride
More than 750 cyclists and volunteers participate by starting in the city and riding in a 13, 34, or 72-mile segment through the Greater Philadelphia area. More than 30 teams have generated well over $15 million in nine years to support research funding for the diseases they represent. The Penn Medicine Orphan Disease Center (ODC), which was established to promote the development of therapies across a broad range of orphan diseases, makes sure that all donations made go entirely toward these pilot projects, with no overhead deducted.
Jennifer Nicholl, one of the co-founders of the NR2F1 Foundation and the foundation secretary, will be participating in the MDBR along with her husband Eric and other members of the NR2F1 Team, to raise funds for the foundation. Jen and Eric have an 11-year-old daughter, Maggie, who was diagnosed when she was 3 years old with BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome).
Maggie was diagnosed after 3 years of missed milestones, multiple Doctors’ visits and assessments, and finally an extensive genetic test that would put a name to it. BBSOAS impacts so many aspects of Maggie’s life. Right now, beyond therapies to treat symptoms, there are no treatments, and certainly no cure, but as parents and NR2F1 Foundation members, they want to change that.
Almost 8 years ago Jen met and starting chatting with 4 other moms who have a child with BBSOAS, one of whom was Carlie Monnier, the Foundation President. At the time there were no support groups or even much information about the disorder. In 2018 several parents met at a conference in 2018 and decided to start the Foundation.
BBSOAS is a neurodevelopmental condition caused by a disruption in the NR2F1 gene, characterized most commonly by developmental delay, intellectual disability, and visual impairment. There are currently only a few hundred known cases of BBSOAS worldwide.
Medical understanding, knowledge and research of rare diseases is limited. As a parent-patient led charitable foundation, the NR2F1 Foundation (501c3 approved), is dedicated to empowering families and individuals living with rare NR2F1 mutations through education, advocacy, and research. The NR2F1 Foundation works together with researchers of this disorder.
How can you help?
We are asking you to join us in these efforts. With your support, 100% of proceeds raised will go the NR2F1 Foundation. You can see the roadmap and plans we carved out in our strategic planning meeting in January, 2023.
Also don’t forget, your employers may offer matching opportunities. Our donation tool will help you with this too.
On behalf of Maggie and all those living with BBSOAS, thank you in advance for your support.
Highlights from the 2017 Million Dollar Bike Ride can be seen here.
Carlie is the 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.