**The NR2F1 Foundation is a US registered charity, supporting families with BBSOAS worldwide. Your donation will be processed from GBP into USD**

Dear friends and family,

Thank you so much for taking the time to read our son Albert’s story.

By just 10 months old, Albert faced many challenges. He struggled to gain weight, missed every developmental milestone, and began experiencing seizures so severe that he was placed in a medically induced coma on June 25th, 2024. After numerous tests, we finally received a diagnosis: Albert has BBSOAS, an ultra-rare genetic disorder caused by a mutation in the NR2F1 gene.

This disorder affects only around 300 people worldwide. Symptoms include visual impairment, seizures/epilepsy, developmental delay, and intellectual disability. As his family, we were heartbroken by the uncertainty and the lack of available treatments.

In our search for answers, we discovered the NR2F1 Foundation—the global organization dedicated to finding treatments for this rare condition. Their tireless work is crucial, not only for Albert, but for all children affected by BBSOAS.

On July 6th 2025 friends and family of Albert will be participating in the Croyde Bay Triathlon for the NR2F1 Foundation.

We are asking for your help. The NR2F1 Foundation is at the forefront of groundbreaking research, but they need support to raise $205,000 in 2025 to continue their vital work. Every donation—no matter the size—brings us one step closer to a future where Albert and others like him can have a better quality of life, and hopefully, treatment options.

Please join us in supporting this cause. Together, we can give Albert and children like him the chance they so desperately need. Thank you for your generosity and your support.

Finally, a special thank you to those participating in the triathlon and helping to raise money and awareness for BBSOAS and the NR2F1 Foundation, including;

Daniel O'Brien

Matthew Meehan

Matthew Giddons

Hannah Houghton

Ben Moss

John O'Brien

Kevin Meehan

David Marsden

Sophie Marsden

Kirsty Marsden

Cathy Marsden

Nick Marsden

Peter Kelly

Mick O'Brien

Grace Meehan

Love,

Sean, Adele & Albert

Learn more about the type of work the NR2F1 Foundation funds?

Watch this short video with NR2F1 Foundation President, Jennifer Coughlin and Research Chair, Melissa Thelen explain a drug repurposing project

The NR2F1 Foundation in 2024 committed to a 3-year sponsorship and awarded the funds to Dr. Schaaf, Professor and Chair of Human Genetics at Heidelberg University and Medical Director of Human Genetics at the University Hospital of Heidelberg, to hire Dr. Elsa Wassmer. Dr. Wassmer now focuses exclusively on BBSOAS and the NR2F1 gene and it is the hope that this will be first of many similar grants the foundation will award to researchers. Read more here

What is BBSOAS?

BBSOAS, also known as Bosch-Boonstra-Schaaf Optic Atrophy Syndrome, is an ultra rare neurodevelopmental disorder caused by a disruption in the NR2F1 gene. BBSOAS is characterized by a wide array of clinical features, but the most common are visual impairment, epilepsy/seizures, developmental delay, and intellectual disability.

There are only around 300 known cases in the world, and currently no cure or treatment. But there is one charity in the world trying to change that. The NR2F1 Foundation is funding research of BBSOAS in the hope to find treatment for all the other families living with the condition.

We are raising funds to support the NR2F1 Foundation, whose mission it is to empower families living with rare NR2F1 gene variants (BBSOAS) through education, advocacy, and research.

This year the NR2F1 Foundation need to raise a minimum of $205,000 to fund their research roadmap projects and operating costs.

Our vision is that every single family and individual living with rare NR2F1 variants will live a full and empowered life.

Tri(athlon) for Albert

NR2F1 Fundraiser Croyde Bay Triathlon July 6th 2025

Team Members