Launch Day – April 21, 2023
We are witnessing history in the making!
In collaboration with a multi-disciplinary team led by Dr. Veeral Shah, the NR2F1 Foundation helped make history with the launch of the first day of the BBSOAS Center of Excellence and clinic on April 21st at Cincinnati Children’s Hospital.
Carlie and Jeff brought their 10-year-old daughter, Sidelle, to the BBSOAS clinic, and they were impressed with the knowledge of the team and how well they worked with Sidelle. Carlie says, “They were patient, thorough, friendly, and professional. It’s difficult to get Sidelle engaged in a testing environment but they were very natural and flexible while implementing strategies to keep her interest. They gave her breaks when she needed them and learned quickly what motivated her. We just sat back and watched in amazement!”
Three families took part in this historical day which began with an evaluation at Cincinnati Children’s Vision Rehabilitation Program in the cerebral visual impairment (CVI) clinic headed by Dr. Terry Schwartz. Fellow team members Melissa Rice, a pediatric optometrist, Melody Klayer, a long-time assistant to Dr. Schwartz, and Elsie Bush, an occupational therapist (OT), all worked together to evaluate each child’s level of CVI. This was followed by an ophthalmology examination by Dr. Shah, which included details on the ocular findings and prescription recommendations for eyeglasses.
CVI Report Recommendations
The visit culminated in a CVI report sent to each family detailing impressions and recommendations for their child in areas, including OT, educational, and orientation/mobility. The report also included a long list of CVI resources and information.
Brenda, mom to 7-year-old Sawyer, said, “It was the most comprehensive evaluation he’s had since his diagnosis 5 years ago. It was mind-blowing to learn more about how Sawyer’s vision works and how he interprets what he sees.”
Since the vast majority of doctors and specialists know nothing about BBSOAS and CVI, it’s typically the parents who do the teaching. This can be exhausting and frustrating. Carlie says, “It was a relief to finally see specialists and learn from them; not the other way around.”
Future Visits
Dr. Shah and his team plan on seeing BBSOAS patients every six months. These visits are not only invaluable for the families, but they also inform BBSOAS (and CVI) research. Each patient, one by one, is helping the NR2F1 Foundation build a natural history study that will inform research to discover potential treatments to improve the quality of life for everyone living with BBSOAS.
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.
