Help us Accelerate Global Discovery and Bring Hope to BBSOAS Families like us

Halani Love was born in May 2024 and made it clear from the very beginning that she does things on her own terms. One minute, Mama was sleeping peacefully, and the next, Halani had decided it was time to enter the world. That bold arrival was just the start of a story full of strength, personality, and excitement.

Halani struggled to gain weight and spent her first month in the NICU while doctors worked to understand her unique little body. She was born with multiple congenital defects, as well as deafness and hypotonia, which affect her mobility and development, but it wasn't until Halani began having noticeable seizures that we received her NR2F1 gene mutation diagnosis, and from there, a whole new world of answers began to open.

Despite all the challenges, Halani approaches life with determination and curiosity. She is learning to eat without her G-tube, build strength, and explore the world at her own pace, celebrating every milestone along the way. One of her favorite recent accomplishments is discovering how entertaining it is to chew on her own toes.

She is our feisty giggler, capable of making everyone laugh one moment and completely melt the next with her expressive little attitude. She loves cuddles, bright colors, fall weather, and letting the family dogs nibble her toes. Life with Halani is full of love, laughter, and a refreshing perspective on what truly matters.

We are raising funds to support the NR2F1 Foundation, which is dedicated to research, education, and helping families like ours connect and grow stronger together. With enough support, we will be able to attend the NR2F1 Foundation Conference in April 2026 in our hometown. This opportunity would allow us to connect with other BBSOAS families, learn from experts, and bring back knowledge that can help shape Halani’s care and future.

Supporting Halani means more than donating. It means standing with a little girl who faces the world with courage and joy, and helping her continue to shine in her own extraordinary way 💜

Why This Matters

BBSOAS (Bosch-Boonstra-Schaaf Optic Atrophy Syndrome) is a rare, complex neurodevelopmental condition caused by variants in the NR2F1 gene. It affects vision, development, and often causes seizures or epilepsy.

Today, there are only ~500 diagnosed individuals worldwide — yet families urgently need answers, treatments, and hope.

Research is the only way forward.

What the NR2F1 Foundation Does

The NR2F1 Foundation is a global, patient-led nonprofit dedicated exclusively to families affected by rare NR2F1 gene variants.

Our vision is that every single family and individual living with rare NR2F1 variants will live a full and empowered life. Our mission is to empower families and individuals living with rare NR2F1 variants through education, advocacy and research.

Research the NR2F1 Foundation Funds — Around the World

The NR2F1 Foundation currently invests in BBSOAS research programs in Germany, France, and Italy, and in 2026 will open the first-ever dedicated BBSOAS research laboratory in the United States at Cincinnati Children’s Hospital Medical Center, led by Dr. Veeral Shah.

This U.S. lab — funded entirely by the Foundation — is a major milestone for families.

The 2026 Funding Goal: $320,000

Your donation helps fund:

NR2F1-exclusive post-doctoral researchers in Germany and Italy
The first dedicated BBSOAS research lab in the U.S.
The first-ever BBSOAS drug repurposing observational study
The 2026 BBSOAS Family & Scientific Conference

These projects move families closer to real treatments.

Help Lead the Way to Answers

For families living with BBSOAS, research means hope.

Your support fuels the science that will change lives.
Please donate today and help lead the way to answers.

Halani Love

By NR2F1 FOUNDATION

Halani Love