An Ultra-rare Disease? Where Do We Go from Here?

When people are diagnosed with rare, incurable disorders, they and their families suffer both from the disease itself and from the lack of information and resources available. They become acutely aware that research can only be conducted when it is funded. This article presents our experiences following the diagnosis of our daughter with chorea-acanthocytosis, and describes how we established a not-for-profit organization to fund and facilitate research into this rare disease. Personal relationships with clinicians and scientists, and with friends who were willing to help, have played an essential part in moving the field of neuroacanthocytosis research forward.