We are quickly approaching the year 2000 and I think it is important to reflect on the progress that has been made with the disease cystinosis. When cystinosis studies began at the National Institutes of Health in the early 1960's, no one had any idea what caused this disease, and many patients did not live past 10 years of age. Since that time, the defect in cystinosis has been found, the treatment has been approved by the Food and Drug Administration, the cystinosis gene has been mapped, and before this century ends, the cystinosis gene will be isolated. Truly remarkable for a rare disease that affects 300 people in the United States.

In addition to the progress in understanding cystinosis, great strides have been made with kidney transplants which were not available until the 1960's. Kidney transplantation has prolonged the life of many individuals with cystinosis well into their thirties.

There are many adults with cystinosis that live productive lives. Some have graduated from college and many are working in professions such as computers, management, medicine, broadcasting, teaching and sports. A few have gotten married and several women with cystinosis have had children.

So many of the young children who have had the benefit a long term Cystagon therapy are doing even better and are participating in their local school and community activities. I often hear these children tell me how much fun it is to play on a softball or soccer team, or to go swimming in the summer or how much they love to ride their bicycles. I heard one patient talk about how she looks forward to graduating from high school (she is 6 years old!)

With availability of Cystagon , compliance in taking the Cystagon, continued advances in kidney transplantation and in gene therapy research and the eventual FDA approval of cysteamine eyedrops make the prognosis for individuals with cystinosis more promising than ever before.