Colleen Snyder, MA in Literature and Language, The American University, Washington, DC
Diagnosed in 1976 at age 20 with a pituitary tumour and acromegalic gigantism that went undiagnosed for 12 years, Colleen Snyder searched for 45 years to find another person with the same diagnosis. While living in Virginia’s Blue Ridge Mountains in the United States in 2020, through serendipity, a Google search, and at home DNA test kit, she learned that the rare AIP ARG304STOP genetic mutation caused her gigantism. After contacting the London physician Prof Márta Korbonits who discovered the link between current Irish patients and the historical giant in the museum, she learned that she was the first person found in the United States with the Irish mutation—a mutation linked initially to a small geographic area in Counties Tyrone and Derry, Northern Ireland. From her family tree, it was clear that the mutation had come to the US with her great-great-great grandfather in 1861 when he had emigrated from Coalisland, County Tyrone. She is committed to helping Prof. Korbonits with her research by seeking out other families in the United States with roots to Northern Ireland who may have the AIP mutation. For more information, go to www.colleensnyder.net.