The 2022 NR2F1 Family and Scientific Conference was held this year in Orlando, FL, on April 6 – 8. It was attended in-person and virtually by families from around the world who have a family member that has been diagnosed with BBSOAS. Ten countries were represented including Chile, Armenia, Germany, France, Israel, and Sweden, and 21 states in the US. Among the 180 in attendance, 70 were BBSOAS patients.
Carlie Monnier, President of NR2F1 Foundation, along with other board members kicked things off on Thursday by welcoming everyone and giving a history of BBSOAS and the foundation. This was followed by a live-stream presentation by Dr. Christian Schaaf on “Clinical Manifestations of BBSOAS Across the Lifespan”. The next session was by Dr. Jane Edmond via live-stream giving an overview of “Vision Findings from the 2018 BBSOAS Conference”. After a break, Dr. Shah continued with “CVI: Moving Forward”. After a lunch buffet hosted by the NR2F1 Foundation, Dr. Kyle Horning, the Foundation’s Scientific Officer, presented his work in “Developing a BBSOAS Research Roadmap”. He was followed by Dr. Terry Jo Bichell of COMBINEDBrain who presented, “Natural History is Power: The Rare Patient’s Most Valuable Resource”.
Dr. Terry Jo Bichell
Then came the “Launch of the NR2F1 Foundation Patient Registry/Natural History Study!” by Carlie Monnier, Stephanie Fountain, board Vice President, and Dr. Terry Jo Bichell. This registry has been in the works for months after following a huge setback and everyone has been eagerly waiting for it to be ready. After the presentation there was a breakout session for everyone to get signed up to the new registry. The rest of the afternoon was spent having fun, dancing and celebrating the BBSOAS Rockstars to the music of Noam Brown.
Friday was Family Day. The conference was held at the Embassy Suites by Hilton Orlando Lake Buena Vista Resort which has a very large children’s play area on their grounds. Hosted by the NR2F1 Foundation, the morning was full of fun, games, entertainment, music, and special surprises for all BBSOAS families and friends. The resort was spectacular and a good time was had by everyone.
For many families, the highlight of the event was not just getting information from experts about living with BBSOAS but meeting other parents and BBSOAS families. Talking and sharing with others who are experiencing many of the same challenges helps with knowing that one is not alone in the journey. It also provides a very understanding support group. Parents with more experience are able to help those who are just getting a diagnosis. Tim and Jennifer Coughlin from the UK said, “We received the diagnosis for our 12-month-old daughter, Edith, 8 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.”
Carlie summed up her thoughts on the event, “This conference was a tremendous experience for both the international BBSOAS community and my fellow foundation board members. No matter if they were there in-person or virtually, from the U.S. 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.”
Carlie is the Vice 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.
