International FOXG1 Foundation was formed on October 4, 2012 by six families who have children afflicted with a FOXG1 mutation. A FOXG1 mutation, which is found on gene 14q12, is a severe neurological condition characterized by: seizures; major sleep disturbances; small head size; inability to control body movements; mild to significant developmental delay; lack of speech; partial or complete agenesis of the corpus callosum and inconsolable crying during the first year of life.
Since our inception, the foundation and its Board have successfully applied for and been approved for 501(c)(3) non-profit tax exempt status. Our family support group has grown from a handful of families to approximately 255 worldwide. Our research team– Dr. Jeffrey Neul, M.D. Ph.D.; Dr. Alessandra Renieri, M.D. Ph.D., and Dr. Alex Paciorkowski M.D., joined together with IFF to study the mutation in hopes of developing treatments and possible a cure.
In October of 2014 the National Institute of Health awarded a $29 million five-year grant to study FOXG1 Syndrome, MECP2 Duplication Syndrome, CDKL5 Syndrome and Rett Syndrome. The goals of this grant are to understand the core clinical features of each disorder, identify if there are any treatments that can improve quality of life, and to understand the link between symptoms and brain imaging/eeg variations.
In 2015 we introduced the Béatrice Fortier Memorial Family Fund, developed to provide funding for medical needs not otherwise covered by insurance. 2016 was also a banner year; we were awarded a $5,000 grant from Global Genes to start an equipment lending library within our FOXG1 families! We are very excited to be able to fill these gaps and others for our foxes. For more information, you can view our 2016 Annual Report.
Long term, we are hoping to fund a FOXG1 Conference where medical staff can provide clinics, host seminars and provide a place for our families to meet. We are investigating the most effective methods to disseminate information to the general public and the medical community to inform them of not only the Foundation, but also to educate physicians on the signs and symptoms of FOXG1 for earlier diagnosis, all while raising awareness and funds for research.
We are committed to following this path, wherever it may lead, and make our dreams reality! We started this foundation so that no one would ever have to feel as alone as we did, with the wish that someday, we will find a cure.