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.
Stephanie is a proud mother of two children, a wife, and is currently a stay-at-home mom. Prior to becoming a stay-at-home mom, Stephanie graduated from Georgia Southern University with a Bachelors in Early Childhood Education and taught a combination of third- and first-grade classes for six years. Her daughter, Charlotte, was born after an uncomplicated birth and pregnancy. She was diagnosed with epilepsy at nine weeks old and her developmental delays became noticeable shortly after. At two years old, Charlotte was diagnosed with a mutation in her NR2F1 gene. The first thing she and her husband did was google the syndrome. They were surprised to see very few resources and found little information on the progression of the syndrome. This is what motivated Stephanie to aid in the creation of the NR2F1 Foundation. Stephanie hopes to be a strong advocate for the community and is honored to be working with such a dedicated group of individuals.
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.
Stacy is a Certified Oola Life Coach, a small business accounting specialist, and a BBSOAS mom. Currently living in central Minnesota, she is mom to 15-year-old Rainah, and enjoys spending time with family and friends, a good cup of coffee, and finding new adventures to explore. Stacy is looking forward to making a difference in the BBSOAS community.
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 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.
After a long road trying to find answers to her son Colton’s many challenges and diagnoses Erin received a call from a neurologist at the Children’s Hospital of Colorado on a cold January day while she was watching her daughter play indoor soccer. The neurologist had been conducting research into genetic causes of a catastrophic type of epilepsy known as Infantile Spasms that Colton had thankfully been successfully treated for at 7 months of age. Colton had a mutation in the NR2F1 gene that explained everything. Full exome sequencing as a part of the research study had finally found the answer, about two years after the initial blood samples had been taken, and almost 5 years into Colton’s life. For Erin, the information was a relief, an explanation, and a door into a community of families who were facing the same challenges.
For Erin, finding the NR2F1 Foundation and BBSOAS family group were life changing. Meeting other BBSOAS families felt like reconnecting with old friends. When a position on the board opened Erin knew she had to be involved with this small but mighty group who is always working to make life better for families impacted by this rare disease.
Erin has a B.S. in Biology and a B.S. in Nursing and has been a registered nurse for nearly fifteen years. She has worked in the Pediatric ICU, Neonatal ICU, as a school nurse, and at a pediatric urgent care. Currently, she is a home care nurse in addition to caring for Colton and advocating for him every day to be the very best he can be. Erin also loves to watch Colton’s sisters do what they love, play soccer (Addy) and compete at gymnastics (Stella).
Erin lives in Timnath, CO with her husband Matt, her daughters Stella (12.5), Addy (11) and of course Colton (6). Erin tries to squeeze in some reading, breakfast with friends, pedis with her daughters and streaming favorite shows with her husband once Colton is in bed to take care of herself a bit!
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.
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.
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.
Linda lives in Colorado Springs and is a photographer, a personal assistant, a CNA for her daughter Penelope, and a BBSOAS mom. Linda and her husband William currently have five children – Garrett, 16, Landon, 12, Penelope, 6, Evelyn, 3, and Camilla, 3. They are expecting their sixth child at the end of June, 2022. She enjoys watching Hallmark movies, cooking, baking, and making vanilla extract. After Penelope was diagnosed with BBSOAS Linda wanted to join the board to help other parents navigate the sibling relationships that are often overlooked when caring for a special needs child.
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.
Jennifer is proud Mum of Alice (almost 4) and Edith (18 months). After spending Ediths 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 lives with her husband Tim and daughters in London, UK, and has a BA in Business Management from Oxford Brookes University, UK. Jennifer has spent 14 years working at UBS as a Business Manager, in both New York and London.