Rory Belle's Story
When Rory Belle was born in 2019, she completed our family of four. Our son was thrilled to be a big brother, and we - her parents - were madly in love with our little peanut. What we didn't know then was our sweet Rory Belle began to die as soon as she was born.
Over the next 17 months, our world would be turned upside down with every new symptom from failure to grow, to seizures, to spasms, to liver failure. Eventually, whole exome sequencing discovered mutations on each of her NARS1 genes. The disease was so unknown that her medical team were grappling with the diagnosis.
Rory died peacefully in our home surrounded by her family in 2021. This was our final hope for her.
Rory's life is now lived through The Rory Belle Foundation, which provides others born with NARS1 mutations a chance to live with joy everyday. This is our mission.
The NARS1 gene is responsible for creating proteins that help cells grow and develop throughout your body. A mutation or mutations on this gene leave those impacted with cognitive, physical, and neurological issues. It can cause speech delays, abnormal brain MRI's, difficulty balancing and walking, seizures, feeding issues, and many other symptoms. We believe there are about 50 individuals in the WORLD with symptoms related to NARS1 mutations.
In order to develop treatment options for NARS1 disease, we need to raise $4 million to fund research efforts and create a gene replacement therapy. The biotechnology to cure NARS1 disease exists with gene therapy, but we need your help in generating the funds to make that a reality.
Families: Click on the button to enroll in the Rare-X Registry!!
This will allow us to provide insight on NARS1 disease to researchers, doctors and each other to improve awareness and treatment options!