One-year-old Edith was given the diagnosis of BBSOAS, sometimes referred to as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, in March of 2020. With only a few hundred confirmed cases, it is one of the rarest neurological illnesses in the world. Jennifer and Tim Coughlin left their doctor's office that day feeling scared and alone as parents of a child given such a serious diagnosis. They had no idea how their older daughter, Emily, and their family would be affected, or what the future of their younger daughter would hold.
After finally getting the answers to the symptoms Edith had, Tim and Jennifer learned about the NR2F1 Foundation, a non-profit committed to helping people with uncommon mutations of the Nr2f1 gene. The BBSOAS disorder is caused by these mutations. Parents who have children with BBSOAS oversee the foundation and its community, and they are always looking for new solutions and more effective treatment options.
In April, the foundation held the 2022 NR2F1 Family & Scientific Conference in Orlando, FL, which the Coughlins attended virtually from London. As a result, they now are connected to a network of families, physicians, researchers, and scientists around the world who are all dedicated to helping patients and their families.
Chicago will host the 2022 Bank of America Chicago Marathon on October 9, and more than 40,000 runners are expected. Tim Coughlin and Chris Schastok, his best friend, are looking for sponsors as they run to raise money for the foundation's research. Chris and Tim will be running the Chicago Marathon together for the fourth time, this time will clearly be more personal for them.
Since they first met as freshmen at Trinity College 20 years ago, Chris and Tim have been close friends. The two families are very close because Tim is the godfather of Chris's daughter Mia and Chris is the godfather of Tim's daughter Edith. “Tim is one of my closest friends and someone I consider a brother, even though we live on different continents”, according to Chris. “We have a unique bond, and I don't believe I would run this race with anyone else.”
With Edith's diagnosis, Chris and Tim made the decision to compete this year in an effort to raise money for the NR2F1 Foundation. Instead of approaching huge firms for sponsorship, they are turning to their friends and people in their professional networks. The Foundation will receive 100 percent of all donations for research into the mechanisms underlying BBSOAS, as well as to create new drugs and therapies.
Check to see whether your company will match your donation if you live in the United States. The NR2F1 Foundation is a 501(c)(3) non-profit organization (Federal ID# 83-2659721). Donations can be made HERE.
