How 1 Rheumatology Patient Changed the History of a Disease

A few weeks later, on Christmas Eve 2019, Michael succumbed to his disease, surrounded by those he loved.

“He wanted to live so much,” Nancy told me. “He never gave up.”

Dr. Ombrello has said that Michael “was the bravest man I have ever met.”

On July 28, 2020, Laura gave birth to a healthy baby boy and named the child Michael (Mikey for short) in honor of her father. Through their grief, Michael’s family has found strength and solace in knowing that the gift he gave to science at the end of his life was fundamental to the discovery of VEXAS and to our broader understanding of human disease.

As Laura shared with Dr. Ombrello, “If that is my father’s legacy, then it’s a pretty darn good one to have.”

Jason Liebowitz, MD, is an assistant professor of medicine in the Division of Rheumatology at Columbia University Vagelos College of Physicians and Surgeons, New York.

Reference

1. Beck DB, Ferrada MA, Sikora KA, et al. Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020 Dec;383(27):2628–2638.