Earlier this year Tim and Jennifer Coughlin received the news that their youngest daughter, Edith, was diagnosed with BBSOAS, a rare neurological mutation of the NR2F1 gene. A couple of months ago Tim and his friend Chris Schastok decided to run the 2022 Bank of America Chicago Marathon to raise funds for the NR2F1 Foundation.
With no idea of how much money they would be able to raise, as of race day on October 9, 2022, they had raised over $130,000, and donations are continuing to come in. The donations will be used to fund research that can change the lives of those who have been diagnosed with BBSOAS. The Foundation has formed the first NR2F1 Collaborative Research Group comprised of the leading NR2F1 and BBSOAS experts from 3 countries to collaborate and test a potential molecule that has very promising therapeutic potential for individuals with BBSOAS.
The Coughlins' Thoughts
Tim and his wife Jennifer, Edith’s parents, recently voiced their thoughts on the marathon and Edith’s recent diagnosis and how both have affected their lives.
Receiving a challenging diagnosis brings many different emotions including fear and loneliness. Wondering how their lives would be different, would it all be ok, what did it mean for their daughter Edith were all thoughts in Tim’s mind. Tim and Jennifer were fortunate to find the NR2F1 Foundation where they felt love and acceptance by the community, a group that is living the same daily reality as their family.
Tim’s close friend Chris reached out to the foundation and suggested the idea of running the marathon as a way to raise funds. Tim and Jennifer both said that if not for the marathon, they would not have had the courage to ask for help from their friends or share their story. Chris deciding to give his time and support by running the marathon gave the Coughlins the courage to be honest with what they were going through and face their challenges head on.
Tim says that preparing for and running the marathon gave him a sense of purpose, it was something he could do to help his daughter. He says that finding the foundation, committing to helping the cause, and telling his family’s story has been a lifeline for him. He has recently joined the board of directors at NR2F1 Foundation to continue to help the fight to find new treatments and help others who have the same disease.
Jennifer Couglin is proud of her husband's dedication to helping Edith and other BBSOAS patients, and she has also joined the board of directors, as an honorary member.
Race day
Carlie Monnier, President of the NR2F1 Foundation Board of Directors, flew to Chicago to watch the race and support Tim and Chris. She said, “It was exhilarating to be able to be there, jogging from point to point to cheer them on. They ran the entire 26.2 miles, side by side supporting each other to the finish line. One should never underestimate the power of family members, friends and colleagues like all those who invested in the NR2F1 Foundation during this fundraiser.
Thanks to their support, current research projects underway can be expanded upon, as well as exploration of other avenues that were not otherwise financially viable. Their investments will yield a different but more powerful kind of return; a better life and hope on the horizon for children like Edith and her international BBSOAS family. The NR2F1 Foundation Board is sincerely grateful.”
