On April 6–8, the 2022 NR2F1 Family and Scientific Conference was held in Orlando, FL. Families from all around the world who have a family member who has been diagnosed with BBSOAS attended in person and online. Chile, Armenia, Germany, France, Israel, and Sweden were among the ten countries represented, as were 21 US states. BBSOAS patients made up 70 of the 180 attendees.
BBSOAS Speaker Schedule
On Thursday, Carlie Monnier, President of the NR2F1 Foundation, and other board members welcomed everyone and gave a brief history of BBSOAS and the foundation. Dr. Christian Schaaf gave a live-stream talk on "Clinical Manifestations of BBSOAS Across the Lifespan." Dr. Jane Edmond gave a live-streamed presentation entitled "Vision Findings from the 2018 BBSOAS Conference", and Dr. Shah resumed "CVI: Moving Forward" after a short break.
The NR2F1 Foundation's Scientific Officer, Dr. Kyle Horning, presented his work on "Developing a BBSOAS Research Roadmap" after a lunch buffet. Dr. Terry Jo Bichell of COMBINEDBrain spoke next, and her topic was "Natural History is Power: The Rare Patient's Most Valuable Resource."
New NR2F1 Patient Registry
Then followed Carlie Monnier, Stephanie Fountain, board vice president, and Dr. Terry Jo Bichell's "Launch of the NR2F1 Foundation Patient Registry/Natural History Study!" After a significant setback, this registration has been in the works for months, and everyone has been waiting for it to be completed.
Following the presentation, everyone was allowed to sign up for the new registry in a breakout session. The rest of the afternoon was spent having a good time, dancing, and cheering on the BBSOAS Rockstars to Noam Brown's music.
Family Fun Day
It was Family Day on Friday. The conference took place at the Embassy Suites by Hilton Orlando Lake Buena Vista Resort, which features a vast children's play area. The morning was full of fun, games, entertainment, music, and special treats for all BBSOAS families and guests hosted by the NR2F1 Foundation. The resort was beautiful, and everyone had a great time.
For many families, the event's highlight was not just learning about living with BBSOAS from specialists but also meeting other parents and BBSOAS families. Talking and connecting with people going through similar struggles helps parents realize that they are not alone. There is also the support of a community that is very understanding. Parents that have had more experience can assist those who have recently received a diagnosis.
Conference Feedback
Tim and Jennifer Coughlin, who lives in the UK, commented, “We received the diagnosis for our 12-month-old daughter, Edith, eight days ago. Having this level of access to materials, experts, and other families to help us begin to grapple with our new reality has been immeasurably helpful.”
"This conference was a tremendous experience for the international BBSOAS community and my fellow foundation board members," Carlie said. "No matter if they were there in-person or virtually, from the United States or abroad, the community gathered together with a deep and shared understanding of life with a rare disease. They walked away with a wealth of knowledge as well as new friendships. It was also an opportunity for the foundation to showcase all the work we've been doing behind the scenes serving the BBSOAS community, growing our network, and driving research. Hearing everyone cheer BBSOAS STRONG in solidarity throughout the conference gave me, and hopefully everyone, an enormous feeling of gratitude and hope.”
