The NR2F1 Foundation Global Alliance is announcing that December 7th, 2021, will be the first inaugural International BBSOAS Awareness Day. BBSOAS, or Bosch-Boonstra-Schaaf optic atrophy syndrome, is a rare neurological disease caused by variants on the NR2F1 gene, with approximately 250 diagnoses worldwide. The NR2F1 Foundation, established in 2018, is on a mission to empower families and individuals living with rare NR2F1 gene variants through education, awareness, and research.
The Story of BBSOAS
December 7th is the birthday of Peggy Fahed, born in 1978 in Lebanon. She was the first to be diagnosed with and ultimately led to the discovery of BBSOAS. The story of BBSOAS begins with her and her parents, Carmen and George Fahed. Mrs. Fahed states, “Peggy, George, and I are deeply honored and touched. I hope that December 7th will bring progress in scientific discoveries to find solutions to improve the quality of life of our young children and adults and alleviate the suffering of all involved.”
NR2F1 Variants Discovered
Dr. Christian Schaaf is Professor and Chair of Human Genetics at Heidelberg University, Medical Director of Human Genetics at the University Hospital of Heidelberg, and chair of the NR2F1 Foundation Scientific Advisory Board. In March 2012, Dr. Schaaf began working with Peggy’s family in their quest for answers. In 2013, in collaboration with Drs. Danielle Bosch and Nienke Boonstra and 5 other patients and their families from the Netherlands, connected the dots and discovered the NR2F1 variants. At long last Peggy was diagnosed with BBSOAS after a 35-year odyssey of the unknown.
Dr. Schaaf says, “Peggy became the key to solving her own medical mystery and we can learn so much from the patients, if we listen to their stories…we need to listen to the parents as well because no one knows their children better.”
Penni Chambers-Jordan, mother to Isaac who lives with BBSOAS, is absolutely delighted with the announcement of International BBSOAS Awareness Day. She says, “I want to thank Mr. and Mrs. Fahed for being so persistent, and for the wonderful warriors that you are to seek answers for beautiful Peggy! We are honored to be a part of your BBSOAS family!”
The Connection Between December 7 and BBSOAS
Carlie Monnier, NR2F1 Foundation Board President, explains the deep connection between December 7th and BBSOAS. “We humbly honor the Fahed family and their long journey to Peggy’s diagnosis. We honor their persistence in searching for answers because, without it, there would be no BBSOAS. There would be no support group, no research, no awareness. Hundreds of people would still be searching for answers.”
