Leveraging Community Partnerships to Address a Rare Disease Behind a Medical Mystery in New Mexico

Cristóbal Baca and Ana Ortiz came to New Mexico in 1600. Today, they have as many as 5 million descendants. A four-year effort involving community volunteers and workers, medical professionals, researchers, and families across New Mexico unraveled what had been a long-standing medical mystery. It turns out Baca and Ortiz are the source of a founder mutation for cerebral cavernous malformation, a sometimes-hereditary illness that causes the development of abnormal blood vessels in the brain and spinal cord and is potentially fatal. Some 30,000 New Mexicans carry the mutation. We spoke to Connie Lee, president and CEO of the Alliance to Cure Cavernous Malformation, about the Baca Family Historical Project, how her organization leveraged partnerships with community leaders to identify people with the condition, and how the organization used a novel approach to engage people and improve their access to testing and care.