We are raising funds to support gene therapy research. We are focused exclusively on gene therapy as other options for treatment do not offer a cure. The ideal outcome for those affected with CASK Gene Disorder is the complete elimination of the disease.
Our mission is to offer gene therapy to all boys with CASK Gene Disorder to begin with and once the boys have been helped we will offer gene therapy to girls so that everyone has a chance.
There is another foundation that is working on treatments for girls with CASK so that explains why we are focused on helping the boys first. With boys, the disease is often more severe as boys only have one affected X chromosome whereas girls with CASK Gene Disorder typically have one normal X chromosome and one abnornmal X chromosome.