The NR2F1 Foundation Global Alliance announces that the first International BBSOAS Awareness Day will be on December 7, 2021. BoschBoonstraSchaaf optic atrophy syndrome, also known as BBSOAS, is a very rare neurological disorder caused by variants of the NR2F1 gene. Currently there are only about 250 individuals diagnosed with the syndrome worldwide.
The NR2F1 Foundation, founded in 2018, has a mission of helping children and adults who are living with variants of the rare NR2F1 gene with information, awareness and research.
December 7 was chosen as the date for International BBSOAS Awareness Day because it is the birthday of Peggy Fahed. Peggy was born in Lebanon in 1978 and was the very first person to be diagnosed with having the NR2F1 gene, which eventually led to the discovery of BBSOAS.
The story of how it all began starts with Peggy’s parents, Carmen and George Fahed. Mrs. Fahed says about BBSOAS Awareness Day, “Peggy, George and I are deeply humbled and touched. I hope December 7 will bring advances in scientific breakthroughs to find solutions to improve the quality of life of our children and adults and alleviate the suffering of all involved.”
In March 2012, Peggy and her family began working with Dr. Christian Schaaf of Heidelberg University, looking for answers to her symptoms. Dr. Schaaf is Professor and President of Human Genetics at the University, as well as medical director of human genetics at Heidelberg University Hospital. He is also serving as chair of the NR2F1 Foundation Scientific Advisory Board.
In 2013, while working with 5 other patients and their families from the Netherlands, he and two other doctors, Danielle Bosch and Nienke Boonstra, were finally able to put the pieces together and discover the variants of the NR2F1 gene.
After 35 years of not being able to find what was causing her symptoms, Peggy Fahed was finally diagnosed with BBSOAS. Dr. Schaaf says: “Peggy has become the key to solving her own medical mystery and we can learn a lot from patients if we listen to their stories… we also have to listen to parents because no one knows their children better.”
Penni Chambers Jordan, whose son Isaac lives with BBSOAS, is thrilled with the announcement of International BBSOAS Awareness Day. She says: “I want to thank Mr. and Mrs. Fahed for being so persistent and wonderful warriors that you have to search for answers for the beautiful Peggy! We are honored to be part of your BBSOAS family!”
The chair of the board of directors of the NR2F1 Foundation, Carlie Monnier, describes the deep association between December 7 and BBSOAS: “We humbly honor the Fahed family and their long journey towards Peggy’s diagnosis. We honor their perseverance in finding answers because without it there would be no BBSOAS. There would be no support group, no research, no awareness. Hundreds of people would continue to search for answers.”
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.