The Rory Belle Foundation
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.