The NR2F1 Foundation has joined the Rare Epilepsy Network, a collaborative effort of rare epilepsies. Because over 50% of individuals with BBSOAS are also diagnosed with epilepsy, being part of an epilepsy community not only provides support, but also information and other valued resources for those with the congenital disorder.
How REN began
REN, or Rare Epilepsy Network, was started in 2013 with a grant from the Patient-Centered Outcomes Research Institute, and 10 organizations as members. It grew to 32 member organizations by 2019 and launched a rare epilepsy patient registry, the first of its kind. The volunteer led network now has over 70 member groups and is continuing to grow.
REN’s goals
REN welcomes all organizations dedicated to rare epilepsy. The network’s goals are to encourage and facilitate patient-centered outcome research, lead to effective research trials for rare epilepsies, and increase financing, research, and the development of new drugs for rare epilepsies.
NR2F1 Foundation
The NR2F1 Foundation was founded in 2018 by parents of children living with BBSOAS. Discovered in 2012, as of today there are still only a few hundred known cases of BBSOAS throughout the world. Variants in the NR2F1 gene cause the congenital, neurodevelopmental disorder. No two individuals with BBSOAS are the same but there are many common features. One of the most common features is being very musical and having a strong love of music.
Foundation president
The president of the foundation, Carlie Monnier, talks about how her life changed dramatically the day she got the news that her daughter has the very rare disease. For weeks she struggled with the shock, denial, and then grief. Over time she found other families and connected with them. By advocating together, the NR2F1 Foundation was begun, and today she works to help other parents along that same path.
Joining with the Rare Epilepsy Network opens resources in the medical community and the ability to facilitate progress and focus on shared goals.
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.
