Dear Friends and Family,
As many of you know, our 11 year old daughter Maggie, was diagnosed at 3 years old with a very rare genetic condition known as BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome). BBSOAS is a neurodevelopmental condition caused by a disruption in the NR2F1 gene, characterized most commonly by developmental delay, intellectual disability, and visual impairment.
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, we want to change that.
There are currently only a few hundred known cases of BBSOAS worldwide. Medical understanding, knowledge and research of rare diseases is limited. The NR2F1 Foundation (501c3 approved), a parent-patient led charitable foundation, 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? On Saturday, June 10th, 2023, Eric and I will be joining the NR2F1 team, riding in the Million Dollar Bike Ride in Philadelphia, to raise funds for the NR2F1 Foundation, and I am asking you to join me in these efforts. With your support, 100% of proceeds raised will go the NR2F1 Foundation.
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.
Jen and Eric Nicholl
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