Raising research funding for PAX5 and ALG13 related neurological disorders
Empowering families with ultra rare & undiagnosed diseases to find answers
Our mission is to advance scientific research through fundraising and advocacy for ultra rare & undiagnosed genetic disorders. Our mission starts with finding a biomarker and precision medicine candidates for ALG13 and PAX5 related neurological disorders
Inspired by Our Daughter "Nori"
Our world turned upside down when our daughter Nora "Nori" was diagnosed with an ultra rare and catastrophic form of epilepsy at just 4 months old. In the months that followed, we embarked on a diagnostic odyssey to find the cause of Nora's epilepsy and global developmental delays.
Despite extensive genetic testing with some of the best research institutions in the world, the genetic cause of Nora's disorder is still inconclusive, although a few variants of uncertain significance (VUS) have been identified. Lack of a confirmed diagnosis means a lack of support community and an inability to find and fund targeted treatment options. We were told we needed to "wait for science to catch up with our daughter". To us this was unacceptable.
It's our goal to push science forward as fast as possible. Our work begins with funding scientific research on the link between PAX5 and ALG13 genes and neurodevelopmental disorders. Our ultimate goal is to identify the functional impact of these gene variants, in order to investigate treatment options, and eventually a CURE for these devastating disorders.
Until we had Nora we didn't realize the extent of genetic disorders that have no treatment options. While our work begins with PAX5 and ALG13 related disorders, we ultimately envision a world where no parent will ever have to accept the words "There's nothing more we can do"