Help us reach our DESSHtination

There are many stops along the journey to a cure for a rare disease like DESSH. We have made great progress in the last two years. We have connected over 100 families with DESSH, educated the medical community at major conferences in the genetic and rare disease spaces, and collaborated with researchers as they create humanized animal models with DESSH to study the syndrome. Read on to learn about the next stops on the road towards our final DESSHtination. We can make it there with help from our most loyal "roadies" - you!

We need to give scientists the tools they need to create therapies and a cure for DESSH. To start, we will develop a registry with de-identified patient data that can be securely shared with researchers. At the same time, we will build a biobank of blood and tissue samples from DESSH patients, as well as samples from those without DESSH to serve as control samples.

Our greatest endeavor is an ongoing and dedicated DESSH clinic that will bring together patients from all over the world on an annual basis to observe and track symptoms and progress of the disease. Doctors from varying specialties will have the opportunity to consult with multiple patients, creating a cohort of DESSH experts and resulting in a center of excellence for DESSH patients. We had to take a detour from our original timeline when covid hit and the rare disease community was side-swiped. Now we are in gear to host this clinic and actually "hit the road" in Summer 2022!