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.
Family Engagement Committee, Co-Chair
Jennifer is proud Mum of Alice (4) and Edith (2). 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. After having been an active board member for 6 months, Jennifer was voted in as Vice President. This role allowed 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.
Finance Committee, Chair
Jeff is very dedicated to the Mission of the NR2F1 Foundation and became a member of the Board of Directors shortly after this daughter Haley was diagnosed with BBSOAS in August 2018. The two years prior to her diagnosis was filled with frustrating and futile trips to the hospitals in both San Francisco and Pittsburgh as they searched for answers to their daughter’s delayed development, low muscle tone, and CVI. Jeff is grateful to have gained a strong community of other families affected by BBSOAS through he and Melissa’s involvement in the NR2F1 foundation. The families have not only provided inspiration and support to Jeff and Melissa but have become an extended part of their family.
Jeff has a B.A. from Michigan State University and a Master of Business Administration from the University of California, Davis. Jeff, Melissa, and Haley reside in Pittsburgh, PA.
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.
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.
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.
Communications Committee & Conference Committee Chair
Brigette lives in Pagosa Springs with her two daughters, Brooke, age 10, and Brielle, age 11. She is a newsletter contributor, the NR2F1 Foundation Store Manager, and a BBSOAS mom. She homeschools her daughters and is also a Special Olympic coach. After receiving Brielle’s BBSOAS diagnosis, Brigette has worked to raise awareness and be a support for BBSOAS families. She is honored to be able to continue that and help the foundation by being on the board.
Patient Registry Committee, Chair
Katia is a registered nurse, anesthetist and BBSOAS mom. She lives in Miami, FL, with her husband Sergei, together with their two children, Nicholas who is 7, and Aria, 5. Katia has been a Certified Registered Nurse Anesthetist for 12 years and an ICU nurse for 20 years. As a BBSOAS mom she is very passionate about creating and maintaining a sense of community for BBSOAS families.
Research Committee & Fundraising Committee, Chair
Based in London, England, Tim is the proud father of two girls, Alice (almost 4) and Edith (18 months). 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.