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 Fresno, CA with her two daughters and her husband Jeff. 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.
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!
Meredith Howell lives in Indianapolis with her husband, Rob, their two kids, and the two dogs they brought back from their adventures in Costa Rica. Meredith and Rob spend their days raising their small humans—Lola (8) and Sebastian (5)—into good people. Their life is simple, fulfilling, but also quite unique due to their daughter’s rare genetic condition that appears in 1 out of every 75,000,000 people.
Lola was diagnosed with Bosch-Boonstra-Schaaf optic atrophy syndrome in December 2014. It changed everything and nothing at all. Lola was still Lola except now they knew it was five letters and numbers—NR2F1—that changed the course of Lola’s life. Meredith is grateful to be a part of the NR2F1 Foundation because there was little to no information available to her family when Lola was diagnosed. She wants to make sure every person who has a loved one with BBSOAS has a place to go to find support. Meredith has several years of experience in working in the nonprofit world as she is the regional director for a nonprofit called Visually Impaired Preschool Services (VIPS Indiana). Meredith is excited to bring some of her nonprofit skills to help the NR2F1 Foundation grow and thrive for many years to come. She has a B.A. in Interpersonal Communications with a minor in Journalism from Western Michigan University.
Like Carlie, Meredith needs hot yoga to maintain sanity as well as date nights with her husband, dinner with friends, and lots of coffee because her life is indeed a bit chaotic.