Since Diana came into our lives, she has brought so much joy to our family. She is bright, curious, and happiest when she is surrounded by people.
Just before her second birthday, Diana was diagnosed with Pantothenate Kinase-Associated Neurodegeneration (PKAN)—an ultra-rare genetic disorder that affects as few as three in one million children. The disease is terminal and there is currently no cure.
At first, it was difficult to imagine anything beyond this cruel fate. None of us had ever heard of PKAN. But as we began learning more, we also began meeting the small community of families, doctors, researchers, and advocates who have been working on this disease for years. We learned that promising treatments are being developed, including gene therapy, and began to understand that Diana’s future is not yet written.
Dreams for Diana grew out of that hope.
Diana deserves the chance to grow, play, dream, and experience all the possibilities childhood should hold. Dreams for Diana was created to rally around her family, raise awareness of PKAN, and help advance the research that could change her future—and the futures of other children living with PKAN.
Read more from Diana’s family →
Some of the most promising PKAN research is happening at Oregon Health & Science University (OHSU), where Dr. Susan Hayflick and her team have studied the disease for more than two decades. Her laboratory identified the PANK2 gene responsible for PKAN in 2001, helping establish the foundation for much of what is now known about the disease.
Today, OHSU is working with the Horae Gene Therapy Center at UMass Chan Medical School to develop a gene therapy for PKAN. The goal is to address the disease at its source by delivering a healthy copy of the PANK2 gene to affected cells in the brain.
The therapy has shown promising results in laboratory research, and the teams are working through the studies, manufacturing, and regulatory steps necessary to move toward a first human clinical trial.
For families like ours, this research represents something that did not exist for previous generations of children with PKAN: the possibility of treating the underlying cause of the disease.
Getting there requires funding. Because PKAN is so rare, families and private donors can have an unusually direct impact on how quickly research moves forward. The Loving Loic Foundation is working closely with researchers to help fund and accelerate the gene therapy program, with the goal of bringing this work from the laboratory to children.
