Though a cure has yet to be developed, a drug called cysteamine helps slow the progression of the disease, but must be taken every six hours for life.
Desperate to fulfill their daughter’s heartbreaking wish, Stack’s parents, Nancy and Jeff, launched the Cystinosis Research Foundation. The foundation has awarded more than $5.2 million to UC San Diego to help develop new treatments.
The funding helped advance the work of UC San Diego School of Medicine professor emeritus Jerry Schneider, M.D., and professor of clinical pediatrics Ranjan Dohil, M.D., who developed a slow-release version of cysteamine that patients can take every 12 hours.
“Natalie was part of the clinical trial for delayed-release cysteamine,” said Nancy. “And it was the first time in her entire life that she got a full, uninterrupted night of sleep. That’s huge.”
A new approach using stem cell transplants is being developed by Stephanie Cherqui, Ph.D., associate professor of pediatrics at UC San Diego School of Medicine. With support from the Cystinosis Research Foundation, she and her team are working towards a clinical trial that could potentially offer a one-time treatment solution for patients suffering with cystinosis.
Today, at age 25, Natalie is an independent adult beginning her career in social work—something she doesn’t think she could’ve accomplished before the 12-hour medication.