Get to Know NR2F1 Foundation
About Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) or NR2F1
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) was discovered in late 2013. As of 2021, there are a few hundred known diagnoses in the world. It is a congenital neurodevelopmental disorder caused by variants in the NR2F1 gene. A diagnosis of epilepsy and/or infantile spasm affect approximately 50% of BBSOAS patients.
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) or NR2F1 Epilepsy Clinical Features
If you have met one individual with BBSOAS, you have met one individual with BBSOAS, and there is no single “typical” experience, but common features include intellectual disability and visual impairment (optic nerve atrophy, optic nerve hypoplasia, and cortical visual impairment) and epilepsy. Other features include; low muscle tone, feeding and swallowing difficulties, hearing impairment and brain structural changes such as a thin corpus callosum and obsessive compulsive behaviors and autism spectrum disorder. Most importantly, people living with BBSOAS from infants to adults are known for their love of music, their tenacity and stubbornness, their long-term memory, curiosity, perseverance and their consistent ability to make people smile.
Get to Know NR2F1 Foundation
The NR2F1 Foundation (national) was co-founded in 2018 by parents passionate about advocating for and increasing knowledge about Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) and NR2F1 variants. Our mission is to empower families and individuals living with rare NR2F1 variants through education, awareness and research. We focus on both support/information for BBSOAS families and furthering BBSOAS/NR2F1 gene research.
I am Especially Proud of...
Building an organization comprised of seven parents with special needs kids and a beginning operating budget of $0 presented us with heavy challenges. As a team, we persist in overcoming the daily challenges of growing the foundation, all while working full-time in un-related careers and raising our medically fragile children. I am humbled every single day by the tireless work and dedication of the NR2F1 Foundation Board. They are my heroes.
Excited to REN Because...
The NR2F1 Foundation firmly supports and encourages open science and collaboration across disciplines. By opening up resources in the disease community we can focus on shared goals and accelerate progress. Our experiences have highlighted the importance of transparency and connectedness in dismantling the silos we are all working in to further our collective goals.
My Journey and Motivation...
A single phone call drastically changed the course of my family's life. "Sidelle has an ultra-rare disease that was just discovered and we don't know anything about it." This ordinary day of taking care of my first-born toddler, turned very, very dark and the fog of shock and denial followed by grief set in...for weeks to follow. Moving forward, our family began to forge a new path. Over time, I learned that we were not alone and the fog began to lift. By connecting with other families and through the power of parent advocacy, the NR2F1 Foundation was born. Since then it has been my mission to help other parents out of the fog and into the light. In order to balance my soul and counter the challenging world of running a rare disease non-profit and raising a child with special needs, these are the things I need to maintain sanity: dinners with my husband sans kids, hot yoga, a good book, and thrift store shopping.
By Carlie Monnier, NR2F1 Foundation Board President