In March of 2020, 12 months-old Edith received the diagnosis of having BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. It is one of the rarest neurological disorders in the world, with only a few hundred known cases. As parents of a child receiving such a diagnosis, Jennifer and Tim Coughlin walked out of their doctor’s office that day feeling alone and frightened. They had no idea what their youngest daughter’s future looked like, nor how it would impact their family and older daughter, Emily.
Shortly after finally getting the answer to Edith’s symptoms, Tim and Jennifer discovered the NR2F1 Foundation, a non-profit organization dedicated to those living with rare mutations on the Nr2f1 gene. These mutations cause the BBSOAS disorder. The foundation and its community are led by parents living with children who have BBSOAS, and continually search for more answers and better treatment modalities. The Coughlins virtually attended the 2022 NR2F1 Family & Scientific Conference held in Orlando this past April and are now connected with a global network of families, doctors, researchers and scientists, all united in the common goal of supporting patients and their families.
On October 9, the 2022 Bank of America Chicago Marathon will take place in Chicago, with over 40,000 participants expected. Tim Coughlin and his best friend Chris Schastok will be running to raise funds for research for the foundation and are looking for sponsors. This will be the 4th time Chris and Tim have run the Chicago Marathon together, this time obviously for more personal reasons.
Chris and Tim have been best friends since they met as freshmen at Trinity College 20 years ago. Chris is godfather to Tim’s daughter Edith, and Tim is godfather to Chris’s daughter Mia, so the families are extremely close. Chris says “Tim is one of my best friends in the entire world and someone I consider a brother. We have a special relationship and I don’t think I’d run with anyone else. We live thousands of miles apart but communicate virtually every day.”
Chris and Tim decided to run again this year after Edith’s diagnosis to help with fundraising for the foundation. They are reaching out to friends and those in their professional circles for sponsorship, rather than large corporations. All funds raised will go directly to the NR2F1 Foundation for researching the mechanisms of how BBSOAS works, and for studies to develop new medications and treatments.
If you are based in the United States, check to see if your employer will match your donation. NR2F1 Foundation is a registered 501(c)(3) non-profit organization (Federal ID# 83-2659721). Donations can be made HERE.
We will post a report after the event with the final results of the fundraising. If your employer matches funds and would like to have their name listed as a donor, please let us know and we will publish that information in a list of donors. Only those who indicate they want their information listed publicly will be included.
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.