Board of Directors
Primary Focus of the Board of Directors
We integrate education, advocacy, and research to empower families and individuals with rare NR2F1 mutations.
Board of Directors
Jennifer Coughlin
President
Family Engagement Committee, Co-Chair
Jennifer is proud Mum of Alice (5) and Edith (3). After spending Edith’s first year of life going from specialist to specialist and undergoing countless tests, Edith was diagnosed with BBSOAS two weeks after her first birthday. The immediate shock, fear, lack of answers and desperation fortunately lead them to the NR2F1 foundation.Having spent some time understanding the incredible work the foundation has been doing, Jennifer was keen to get involved in any way she could, driven by the desire to help Edith and others in the BBSOAS community. Being based in the UK this also demonstrates how the foundation truly is helping families and patients around the world. Jennifer was voted in as Vice President in 2023 and stepped into the role of President in April 2024. This role allow Jennifer to utilise her work experience, bringing efficiencies and processes to the board.
Jennifer lives with her husband Tim and daughters in London, UK, and has a BA in Business Management from Oxford Brookes University, UK. Before recently deciding to stay at home with Edith, Jennifer spent 14 years working at UBS as a Business Manager, in both New York and London.
Carlie Monnier
Vice-President
Family Engagement Committee, Co-Chair
A single phone call with the news that their first-born daughter, Sidelle had a rare NR2F1 gene mutation changed everything. Overnight, Carlie and her family began to forge a new path, one laden with more questions than answers. Over time, Carlie learned they were not alone. Through the internet and then a conference, she met other families across the country affected by an NR2F1 mutation. By connecting with other families many questions turned to answers and through the power of parent advocacy, the NR2F1 Foundation was born.
Carlie wants all NR2F1 families whose lives have changed overnight to know they are not alone. They are surrounded by other resilient families and supported by a foundation whose mission is to empower all those touched by an NR2F1 mutation.
Carlie has a B.S. in Special Education, M.S. in Counseling. Most recently, Carlie 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 in Royal Oak, Michigan with her two daughters, Vivienne and Sidelle, her husband Jeff and their redbone coonhound, Ypsie. She needs hot yoga, a good book, and thrift store shopping to maintain sanity.
Brian Read
Treasurer
Finance Committee, Chair
Brian’s sister, Stephanie, was diagnosed with Ohtahara syndrome, a rare neurological condition, characterized primarily by frequent seizures. The underlying causes of Ohtahara Syndrome can vary, and in Stephanie’s case was caused from a genetic mutation. Throughout Stephanie’s life, Brian observed the everyday realities faced by families navigating challenging conditions within the rare disease community. Brian was inspired by the strength of the BBSOAS community and motivated to contribute his expertise to further the NR2F1 Foundation’s goals.
Brian is a Senior Finance and Accounting leader with experience across public accounting, technology startups, and global corporate finance. He graduated Cum Laude with a Bachelor of Science in Accounting from Duquesne University and is a Certified Public Accountant in Pennsylvania.
Brian currently resides in Austin, Texas with his wife, Lindsey, daughter, Brynley, and two dogs, Lucky and Ari.
Jennifer Higgins
Secretary
Fundraising Committee & Research Committee
Jennifer became connected with other parents of children affected by the NR2F1 mutation a few months after her daughter’s initial diagnosis. Jennifer and her husband had watched their daughter missing milestone after milestone. Doctor’s appointments and specialist visits passed with no answer and no direction. Finally, after whole exome sequencing, they had a diagnosis……a very rare diagnosis. At that time, very little information was available on the internet concerning NR2F1 mutations (BBSOAS). However, finding a blog of a now founding board member’s daughter sparked Jennifer and several other parents of known cases to join in sharing information and just airing frustrations and joys. This small circle started with five mothers. Once the Facebook parent support group was initiated by these parents, that circle rippled into the growing community of support seen today. After the inaugural family conference was held in Houston, TX, the seeds for the NR2F1 Foundation were planted.
Jennifer has a B.S. in Criminal Justice and an M.A. in Community Counseling. Jennifer and her family reside outside Philadelphia, PA.
Melissa Thelen
Director
Research Committee, Chair
Melissa became passionate about the mission of the NR2F1 foundation when her daughter Haley was diagnosed with BBSOAS in August of 2018 a few months before her second birthday. Haley had been a puzzle to multiple specialists with her combination of mild CVI, low muscle tone and developmental delays. The answers provided by genetic testing opened the opportunity to find a community and advocate together relentlessly for a cure.
Melissa has a B.A. from Ohio Wesleyan University and a Masters from the University of San Francisco. She works as an Account Executive for a global software company. Jeff, Melissa, and Haley live near their amazing support system in Pittsburgh, PA.
Ashlee Manjon-Stierstorfer
Director
Communications Committee, Chair
Ashlee owns a shirt and sticker shop in Phoenix, AZ and is a BBSOAS mom to Emma, age 4. Along with owning shop and being a full-time mom, she is also a Prior Authorization Specialist at a cancer center. After Emma was diagnosed with BBSOAS in September 2019, Ashlee and her wife searched for all the information they could find to be able to understand BBSOAS better. In 2021 she started managing social media platforms for the NR2F1 Foundation and will continue in that role.
Tim Coughlin
Honorary Director
Research Committee & Fundraising Committee, Chair
Based in London, England, Tim is the proud father of two girls, Alice (5) and Edith (3). In March 2022, Tim and his wife, Jennifer, received Edith’s BBSOAS diagnosis. In the midst of the shock, sadness and fear, they were lucky enough to find the NR2F1 Foundation.
Tim’s motivation to join the board is twofold: first, to work to ensure that other BBSOAS impacted families find the same resources, support and information that helped them process Edith’s diagnosis and what it means for their family, and second, to support ongoing research efforts into understanding, and hopefully someday treating, BBSOAS and it’s symptoms.
Tim has a B.A. from Trinity College (Hartford, CT), a J.D. from Villanova University School of Law and an LL.M in International Banking & Finance from University College London. Tim is currently Head of Project, Commodity & Infrastructure Finance for Europe, Middle East and Africa for Morgan Stanley.
Patrick Coughlin
Director
Patrick first became involved with the NR2F1 Foundation after his niece, Edith, was diagnosed with BBSOAS. Seeing the support and sense of purpose the foundation provided to his brother, Tim, and sister-in-law, Jennifer, following Edith’s diagnosis drove home the critical work the foundation is doing. Patrick draws upon his experience as an attorney to advise the board and provide efficient strategies regarding how best to meet the foundation’s legal needs. Patrick is passionate about his work with the foundation because he believes in its mission of supporting BBSOAS families and funding research and because of his love for Edith, Tim, and Jennifer.
Patrick received his B.A. from Georgetown University and his J.D. from Seton Hall University School of Law. He is a Partner at the law firm of Coughlin Midlige & Garland LLP, and lives in New Jersey with his wife, Sarah, and his daughter, Sophia.
Nesrine Tiss
Director
Nesrine is the loving and dedicated mum of Mathilde who is 4 years old and was diagnosed with BBSOAS on January 2023 after years of medical tests and visits to multiple specialists. When the genetician in our Paris Children hospital announced Mathilde’s diagnosis, she also handed Nesrine a piece of paper with the names of NR2F1 France and NR2F1 Foundation which were, at that point, the only 2 referenced resources for families facing the BBSOAS. After the shock of such a rare disease, Nesrine is committing all of her energy to raise awareness on BBSOAS worldwide, first by getting involved both in NR2F1 France `bureau’ since April 2023 and by creating an Instagram page for Mathilde to share tips on her multiple therapies sessions and to spread communication and activities about rare diseases and especially BBSOAS. In April 2024, Nesrine and her family travelled all the way from Chartres (France) to Orlando (Florida) to attend in person the NR2F1 foundation conference. She has been so convinced and thrilled by what she saw there both in terms of concrete actions in scientific research and the willingness of the families impacted by this rare condition to share and care that she decided immediately to propose her help to the NR2F1 foundation with all that is her power. Beyond useful resources and support acquired through this global community, Nesrine found real family members who understand perfectly what her own family is going through. Since then, Nesrine has been involved in ongoing NR2F1 foundation (especially around fundraising initiatives and the foundation website project). She is now excited to help grow the NR2F1 foundation and serve the global BBSOAS community as a board member.
Nesrine holds an engineering degree from Supélec (France) and is pursuing her career in digital and technology strategy consulting along with taking care of her beloved husband Robin and daughter Mathilde. Her family currently lives in Chartres (which is mainly famous for its wonderful cathedral). Nesrine enjoys running, yoga, and meditation, reading a good book or having sometimes watching a good movie to find the balance in her every-day high-speed life.
Kim Ferruzzi
Kim Ferruzzi
Director, Asst. Treasurer
Kim lives in Georgia with her husband and two children, Ben and Clara. After years of searching for answers they finally received Ben’s BBSOAS diagnosis shortly after his 5th birthday.
Before relocating to the States in 2022, Kim and her family lived in London, UK where Ben and Clara were both born. She is currently a full time mom and homeschools but has previous experience in finance and accounting. Kim has her B.A. from Wingate University and her Masters from Regents University. Through their own personal journey, she has developed a deep passion for advocacy, research and education to better support Ben and all individuals living with BBSOAS. In her free time she loves to read, travel and spend time with her family.
Susie Wong
Susie Wong
Director
Susie is a mom of two daughters, Gabriella Kamea, 20 and attending college at the University of Illinois, Urbana-Champaign (UIUC) and Siena, 15. Susie first became aware of BBSOAS after Siena received genetic testing in 2015. At the time, they were told there were 15 other cases in the world. Siena always had very low muscle tone and vision problems, so it was a relief to finally have a diagnosis. A blog from another BBSOAS mom brought Susie to the Facebook group and the NR2F1 family. She has always been so impressed at the ways the community supports each other and gets so much done with what they have!
Susie has a B.A. in English Education from UIUC, but has been in the tech community for her entire career—first as a technical writer and for the past 17 years as a UX Designer. She has worked on software, web sites, apps, and kiosks at LexisNexis, IBM, Sears, BMW, Bank of America and is currently at JPMorgan Chase. She aspires to match Siena’s strong work ethic every day!
Candice Conseur
Candice Conseur
Director, 2026 Conference Chair
Candice was introduced to BBSOAS when her close friend Jen received a diagnosis for her daughter Edith, involving the Nr2F1 gene. Shortly after, she met Edith and immediately fell in love. Inspired by Edith’s incredible spirit, Candice is wholeheartedly committed to raising awareness of BBSOAS. Her goal is not only to connect families with the support of the NR2F1 Foundation community, but also to advance research and bring us closer to treatments that improve the lives of individuals living with BBSOAS and their families. Candice had the privilege of meeting many families at the 2024 Scientific Conference, which deepened her connection to the cause and further solidified her dedication to the foundation’s mission.
Candice holds a BA in Spanish from Colgate University and is currently pursuing her MS in Executive Coaching and Organizational Consulting at NYU. She runs a Leadership Coaching and Talent Development practice based in Orlando, Florida, where she lives with her daughter, Hannah.
Kari Kruckow
Kari Kruckow
Director