One of the greatest privileges of leading the NR2F1 Foundation is the opportunity to connect with newly diagnosed families. Every time we welcome a new member, I offer a personal 1:1 conversation, and every conversation is unique—but some are particularly unforgettable. This one was especially meaningful.
It all began when we received a sign-up from a parent whose message was simple, yet deeply profound: “My 56-year-old daughter has just been diagnosed.” As far as we know, this is our oldest known case of BBSOAS. I knew I had to reach out to Icle, the mother of Susan. Icle graciously accepted the invitation, and along with Carlie Monnier, our founder and Vice President, we had the honor of spending an hour with Icle and her husband Bobby. What they shared with us was nothing short of extraordinary, and for much of that hour, either Carlie or I found ourselves in tears. Their story left us speechless—and it’s one I hope I can do justice to in the paragraphs that follow.
Born in 1967, Susan is the eldest of two daughters to loving parents Icle and Bobby, who call Guntersville, Alabama home. From the very beginning, Susan faced challenges that would become a lifelong journey of resilience and love. As an infant, she struggled to drink her bottle, showed a strong aversion to mobile toys above her crib, and even hated Christmas music—a dislike that persists to this day. By the time Susan was about one, she was underweight and suffering from “failure to thrive.” It was then that Icle, a mother’s intuition guiding her, knew something was terribly wrong.
A week-long hospital stay in Birmingham led doctors to a grim prognosis: Susan would likely only live another year. But Icle and Bobby refused to accept that. They brought Susan home and, with fierce determination, began to fight for her life, day after day.
Though Susan missed many milestones throughout her childhood, she never stopped progressing. Icle shared how, in those early years, she made a special glove that fit both her hand and Susan’s. She knew that if she showed Susan, over and over, the right way to use her hands, Susan would learn. And learn she did.
Icle also recalls the countless trips she made, driving Susan and three other children to Huntsville every week for speech therapy and occupational therapy. Susan remained non-verbal until she was 4 or 5. One day, after a session, the therapist told Icle, “Susan talked to me today.” Overcome with emotion, Icle asked her daughter why she hadn’t spoken before. Susan’s simple response was, “I guess I just didn’t have anything to say.”
Susan’s schooling journey was not without its struggles. She was placed in a Special Education classroom, but Icle and Bobby knew in their hearts that Susan did not belong there. The school denied their request for talking books and oral testing, and Susan struggled with math, prompting her parents to hire a tutor. Between the ages of 12 and 15, Susan attended a summer program 80 miles away, designed to help her gain the skills she needed to thrive in school.
But Susan was determined, and her spirit shone through in high school. She formed a close friendship that led her to become the Manager of the school band. However, during this time, the school suggested she be awarded a certificate instead of a diploma. When Icle asked Susan how she felt about this, her daughter replied, “I want a diploma.” Despite everyone telling her it couldn’t be done, Susan proved them wrong. She earned her high school diploma, passing every subject except math and passed the math portion on her second try.
Icle’s unwavering advocacy for her daughter is evident in every story she tells. “You just have to fight for them,” she said. “I knew she could do more than the school thought.” As a mother of a young child with BBSOAS, I cannot help but feel an immense sense of respect for Icle’s tireless dedication to Susan’s well-being, independence, and happiness.
Like many with BBSOAS, Susan has an exceptional memory. On family vacations, while others relaxed by the pool, Susan would retreat to the hotel room, happily memorizing the phone book. Her ability to recall names, dates, and even the details of a particular day was remarkable. She also had an uncanny sense of direction. If they travelled somewhere she had been before, Susan could recite the entire route from memory.
As Susan grew older, Icle knew she wanted more for her daughter than a life spent entirely at home. So, she spent years preparing Susan for independence. For 18 months, she took money from Susan’s weekly allowance and saved it in a separate account, teaching her the value of money, bills, and budgeting. Icle wanted Susan to learn self-sufficiency—an independence that would allow her to live outside of her parents’ protective care.
Today, Susan lives alone, 39 miles away from her parents in Huntsville—a remarkable achievement she’s maintained for 15 years. She works part-time at Marshalls, where she’s never missed a day or been late. She’s an active member of her local church and regularly participates in women’s groups, where she draws support from her close-knit community. Icle typically visits Susan twice a week to help with appointments and is always available for any emergencies. Though Susan’s vision is beginning to deteriorate, she relies on her excellent hearing and has developed creative solutions to maintain her independence. She listens to both the TV and the radio at the same time, and her home is a haven of routine and familiarity. She shops for pop-up cans, as she struggles with using a can opener, and she takes a handi-ride van to work and church members provide her transportation to and from church, as she cannot drive or manage steps or stairs. But even in these small challenges, Susan’s strength and resilience shine through.
Susan also enjoys the simple pleasures of life—going to the movies, taking bus trips, and, like her father Bobby, supporting the SEC teams, her favorite being Alabama and Tennessee football. She’s not just surviving; she’s living.
It was through a genetic testing offer from Hudson Alpha in Huntsville that Susan, after 56 years of not knowing, received her diagnosis of BBSOAS. Her response? “I told you there weren’t very many people like me!” For Icle and Bobby, the diagnosis brought relief. After so many years of uncertainty, everything finally made sense.
As a mother of a 4-year-old with BBSOAS, hearing Icle’s words, witnessing her journey, and feeling the deep love and commitment she has for her daughter, was nothing short of inspiring. Though we don’t yet have many older cases to look to for understanding the future of BBSOAS, Susan’s story gives us hope. It shows us that, with love, determination, and advocacy, it’s possible to achieve things many thought were impossible.
Thank you, Icle and Bobby, for sharing your incredible story. We look forward to the day we can meet Susan in person—her journey is a beacon of hope for all of us.
Jen Coughlin
NR2F1 Foundation President and mom to Edith
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.