The core mission of Leo’s Lighthouse is to find an effective therapy, and eventually a cure, for Bainbridge-Ropers Syndrome (BRS). BRS is a result of an ASXL3 gene mutation, located on chromosome 18. ASXL3 is one of approximately 20,000-25,000 genes that make up the human genome. BRS affects only a very small number of children in the world, but the results are absolutely devastating.
The syndrome was only identified in 2012, and is typically characterized by "failure to thrive, significant cognitive issues, gross/fine motor challenges, seizures, and significant developmental delays." The majority of children with BRS are also nonverbal and have difficulties with the simplest everyday activities like walking, sleeping, and eating. These are just a few of the issues children and families with BRS face everyday, but there are other unknowns. The oldest living BRS child we know of is 25, and the medical community simply doesn't have enough information about the syndrome to know if it’s degenerative, or worse, if there is an association to mortality.
As with most rare diseases like BRS, advocacy falls into the hands of private foundations which are supported in great part by your charitable donations. Lack of awareness and limited access to research funding are the principal barriers for researchers interested in a rare disease like BRS. This is where Leo's Lighthouse aims to make a difference.