December 2021
For her deep commitment and enduring service to the NBIA community, Dr. Susan Hayflick of the Oregon Health & Science University received the “Rare Champion of Hope in Medical Care and Treatment” award from Global Genes.
This award celebrates medical and health care professionals who have made significant contributions to clinical care and treatment of rare conditions. Hayflick was nominated by the NBIA Disorders Association Board of Trustees in recognition of her 30 years of dedication to the NBIA community.
Global Genes, a leading rare disease patient advocacy organization, annually recognizes and celebrates inspiring individuals who work to improve the lives of individuals with rare disorders. It presented the 2021 awards at a ceremony in Philadelphia in November, held in-person and virtually.
“Dr. Hayflick is the one constant who has been working on NBIA since before most of
us ever heard of it,” NBIA Disorders Association Vice President Mary Ann Roser said on behalf of the board. “She is a source of hope for all of us — for NBIA individuals, their families, the board members and the entire NBIA community.”
Hayflick thanked the worldwide NBIA community for the award, saying, “you are my family.” She spoke of being driven by hope, calling it her “fuel” and “the glue that holds groups together, whether in a laboratory, or at home or in an advocacy community. …Without hope, there is not a path forward, but with hope, everything is possible.”
For the past 25 years, Hayflick has served as the director of the association’s Scientific & Medical
Advisory Board, in addition to being the premier NBIA researcher, expert and supportive physician-friend to patients and families the world over. Her journey began in Buffalo, New York, in 1991 when she received a call from a neurologist who asked for her opinion on a devastating neurological condition affecting three of the four children of an Amish couple who lived nearby. All three children were ultimately diagnosed with PKAN, one of the most common forms of NBIA. The family’s plight touched Hayflick heart and inspired her to look for the gene responsible for the disease.
She has since worked tirelessly to understand NBIA disorders and develop treatments for affected individuals. She, her team and collaborators around the world have discovered such NBIA genes as PANK2 for PKAN, PLA2G6 for PLAN, FA2H for FAHN and WDR45 for BPAN
At OHSU in Portland, Hayflick is a professor and chair of the Department of Molecular & Medical Genetics. Her lab is working with collaborators on a clinical trial for treating PKAN in which patients can receive the compound being tested, CoA-Z, in their community, without having to travel to Oregon. That innovation may become a model for the rare disease community on how to run a clinical trial in a way that prioritizes convenience for patients and families. Travel to a trial site is a known barrier to clinical trial participation, especially in the rare disease community.
In accepting the Rare Champion of Hope award, Hayflick told the audience to “find hope, foster hope, create hope, be hopeful, as I am.”
