“Hi, we are Dan and Dee, and we recently celebrated our 41st anniversary. Imagine being in your late 50’s and your brain is forgetting how to do those things you learned to do automatically as a toddler – walking, talking, drinking, eating. Now add that there is no cure, no approved treatment, and the general consensus in the medical community is that everyone is dead by age 40. After many years of searching for a diagnosis, thanks to the Undiagnosed Disease Program, we were told that Dee had Niemann-Pick Type C, a lysosomal storage disease that prevents waste lipids from being cleared from all the cells in the body, but especially affecting the liver, lungs, spleen, cerebellum, and in older patients, the bones. The younger the on-set the more severe and progressive is the disease. There are a few clinical trials for treatments. There is always hope.
What do we do now? Travel the world while we can, raise awareness of NPC specifically, and rare diseases in general. We also try to provide support to newly diagnosed patients and their caregivers.”