Carlie Monnier, President of the NR2F1 Foundation, recently conducted the very first interview ever done with an individual who lives with BBSOAS, a rare neurological disorder caused by a mutation of the NR2F1 gene. BBSOAS, or Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, was named for the doctors who were able to diagnose the disorder. The most prevalent clinical symptoms of BBSOAS are cortical visual impairment, optic atrophy, developmental delay, intellectual disability and about 50% of patients suffer from seizures. BBSOAS has been identified in a few hundred people around the world, with new instances being diagnosed every month.
Communicating with Bosch-Boonstra-Schaaf-Optic Atrophy Syndrome
Many people who live with BBSOAS are non-verbal, making it more difficult to interview them about their life. Instead of speech, they may use gestures like sign language, or some type of communication device. Zeb, a 15-year-old young man living in the Netherlands, is able to speak, and he gives good insights into what it’s like to live with BBSOAS. When asked by Carlie if he wanted to say anything about living with BBSOAS that others who are non-verbal might not be able to say, his response was, “That they are special how they are.” He is learning to be proud of what he is able to do with his disability, and not be sad about what he can’t.
BBSOAS Music and Languages
One interesting attribute of many people diagnosed with BBSOAS is the ability to speak and/or understand several languages. Zeb is currently taking classes in German and can speak and understand English, Dutch, and German. He loves music, which is something virtually all BBSOAS individuals have in common. Dr. Christian Schaaf, one of the founders of the Bosch-Boonstra-Schaaf-Optic Atrophy Syndrome, discovered this and recently published a study about his findings.
Carlie talked to Zeb about the daily living skills he’s learning in order to be able to live as independently as possible. He’s learning what types of jobs or skills he enjoys and which ones he doesn’t, so that hopefully he will be able to get a job in the future that he enjoys doing. Zeb shares that one of his goals for the future is to have a girlfriend!
Exciting News for Zeb
At the end of the interview Zeb’s father, Rob, shared the exciting news that his father had just offered to be a sponsor for Zeb, Mandy, and Rob to come to the United States for the NR2F1 Foundation Family and Scientific Conference in Orlando, FL, in April, 2022. Rob said that his father, who is a scientist, recognizes the importance of the conference and meeting with other families living with BBSOAS.
Carlie’s interview with Zeb was just the first of more to come. It was not only inspirational but also very revealing of what life is like to live with a syndrome that makes a person different from those around them.
